John M. Opitz

Q: What Schools Are Affiliated With John M. Opitz

John M. Opitz is affiliated with the following schools: Montana State University, University of Wisconsin–Madison, University of Iowa, University of Washington, University of Utah

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John M. Opitz

Biology

#1269

World Rank

#2152

Historical Rank

#645

USA Rank

Genetics

#125

World Rank

#162

Historical Rank

#78

USA Rank

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Biology

Why Is John M. Opitz Influential?

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According to Wikipedia, John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome , Opitz–Kaveggia syndrome , Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.

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John M. Opitz's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (2015) (1530)
Resynthesizing evolutionary and developmental biology. (1996) (644)
A newly recognized syndromeof multiple congenital anomalies (1964) (552)
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. (1997) (429)
Obesity: Genetic, molecular, and environmental aspects (2007) (426)
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 (1997) (353)
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. (1982) (328)
A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES. (1964) (312)
Noonan syndrome: a review. (1985) (291)
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. (1983) (277)
The cardiofaciocutaneous syndrome (2006) (268)
CNS anomalies and the midline as a "developmental field". (1982) (249)
Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome (2011) (244)
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. (2010) (241)
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. (2011) (233)
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome (2011) (230)
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility (2012) (210)
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. (1986) (201)
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome (2007) (201)
The DiGeorge anomaly as a developmental field defect. (1986) (188)
American journal of medical genetics. Part B, Neuropsychiatric genetics (2003) (172)
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. (1981) (170)
International system for human gene nomenclature (1979) ISGN (1979). (1979) (161)
International workshop on the fragile X and X‐linked mental retardation (1984) (156)
I-cell disease: a clinical picture. (1971) (153)
The developmental field concept in clinical genetics. (1982) (148)
Errors of morphogenesis and developmental field theory. (1998) (145)
Fibular a/hypoplasia: review and documentation of the fibular developmental field. (1986) (141)
The syndromes of Sotos and Weaver: reports and review. (1998) (139)
Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature (1987) (130)
The developmental field concept. (1985) (125)
DEFECTS OF BLASTOGENESIS (2002) (124)
Blastogenesis and the "primary field" in human development. (1993) (124)
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 (1995) (117)
A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. (1965) (111)
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. (1975) (108)
Familial Kallmann syndrome with unilateral renal aplasia (1975) (105)
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. (1985) (103)
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. (1965) (102)
Nonsalt-losing congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. (1983) (101)
[The campomelic syndrome]. (1971) (101)
Elements of morphology: General terms for congenital anomalies (2013) (101)
The pallister mosaic syndrome. (1977) (99)
RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations. (1994) (99)
Life of Alexander G. Gurwitsch and his relevant contribution to the theory of morphogenetic fields. (1997) (98)
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis (2012) (96)
Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2 (1987) (95)
Microcephaly: general considerations and aids to nosology. (1990) (95)
The Stickler syndrome (hereditary arthroophthalmopathy). (1975) (92)
The dup(3q) syndrome: report of eight cases and review of the literature. (1981) (92)
Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair (2004) (89)
Heterogeneity of Chondrodysplasia punctata (2004) (88)
Elements of morphology: Standard terminology for the periorbital region (2009) (87)
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. (1996) (86)
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. (1996) (85)
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism * (1975) (85)
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. (1973) (84)
Introduction to medical genetics. I. (1964) (84)
G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography. (1987) (83)
Cutis marmorata telangiectatica congenita (1974) (83)
Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation (1974) (83)
Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South africa (1987) (78)
RSH (so-called Smith-Lemli-Opitz) syndrome. (1999) (76)
Selected midline defect associations: a population study. (1989) (76)
New autosomal dominant branchio‐oculo‐facial syndrome (1987) (76)
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. (1983) (76)
On the gates of hell and a most unusual gene. (1986) (75)
Studies on the antigenic properties of prostatic tissue. I. (1960) (74)
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome. (1984) (73)
Meier-Gorlin syndrome: report of eight additional cases and review. (2001) (71)
Aplasia cutis congenita in two sibs discordant for pylori atresia (1982) (71)
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. (1994) (70)
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability (2017) (70)
The nail-patella syndrome (1966) (70)
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. (1998) (69)
The XY Gonadal Agenesis Syndrome (1973) (68)
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. (1979) (67)
The Brachmann-de Lange syndrome. (1964) (66)
Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome. (1974) (65)
The neurofibromatosis-Noonan syndrome. (1985) (65)
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations (2005) (65)
A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload (2014) (63)
Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man. (1979) (61)
Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions. (2002) (61)
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. (1993) (61)
The Stickler syndrome. (1972) (61)
FG syndrome update 1988: note of 5 new patients and bibliography. (1988) (61)
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). (1977) (60)
Noonan's syndrome. A case with elevated serum alkaline phosphatase levels and malignant schwannoma of the left forearm. (1968) (60)
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). (1972) (59)
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? (1999) (59)
Further delineation of the C (trigonocephaly) syndrome. (1981) (59)
Polytopic anomalies with agenesis of the lower vertebral column. (1999) (59)
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. (1984) (59)
Recommendations of an International Working Group (1982) (58)
X-linked aqueductal stenosis: clinical and neuropathological findings in two families. (1973) (57)
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. (1999) (56)
Pseudovaginal perineoscrotal hypospadias (1972) (56)
Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype (1987) (55)
Meckel on developmental pathology (2006) (55)
Diagnostic/genetic studies in severe mental retardation. (1978) (54)
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. (2007) (53)
The trisomy 4p syndrome: case report and review. (1977) (53)
Developmental terms—some proposals: First report of an International working group (1979) (53)
X‐linked hydrocephalus (1987) (53)
Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. (1982) (52)
Further comments on the lissencephaly syndromes. (1985) (52)
Persistent genetic isolation in outport Newfoundland (1987) (52)
Multiple pterygium syndrome. (1980) (51)
Two peculiar types of enchondromatosis (1978) (51)
Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedema (1986) (51)
Discovery of a connective tissue dysplasia in the Martin-Bell syndrome. (1984) (50)
Reflections on the pathogenesis of Down syndrome. (2005) (49)
The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype (1981) (49)
The clinical spectrum of a-L-iduronidase deficiency (1985) (49)
GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. (1990) (49)
The Johanson-Blizzard syndrome: case report and autopsy findings. (1979) (48)
The MIller-Dieker syndrome. (1980) (48)
Conference report: International Workshop on the fragile X and X-linked mental retardation. (1984) (47)
Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies (1972) (47)
A lethal multiple pterygium syndrome with apparent X‐linked recessive inheritance (1987) (46)
The Nager syndrome (1987) (46)
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? (1971) (46)
FAMILIAL JUVENILE NEPHRONOPHTHISIS. AN UNRECOGNIZED RENAL DISEASE IN THE UNITED STATES. (1964) (45)
Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder (2012) (45)
Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. (1984) (44)
Familial thrombocytopenia, elevated serum IgA levels and renal disease. A report of a kindred. (1970) (44)
Audiometric evidence for two forms of X‐linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse (1987) (43)
Familial bilateral renal agenesis and hereditary renal adysplasia (1973) (42)
Congenital and familial iron overload. (1969) (42)
The Noonan syndrome. (1985) (41)
The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign. (1972) (41)
Malformation syndrome of duplication 12q24.1→qter (1981) (41)
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). (1987) (40)
The SC phocomelia and the Roberts syndrome: Nosologic aspects (1977) (40)
The Golabi-Rosen syndrome--report of a second family. (1984) (39)
Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery (2009) (39)
Perrault syndrome: Evidence for progressive nervous system involvement (2004) (39)
International System for Human Gene Nomenclature (1979) ISGN (1979). (1980) (39)
Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription. (1993) (39)
Smith-Lemli-Opitz (RSH) syndrome bibliography. (1987) (39)
Biochemical defect of non-keratan sulfate excreting Morquio syndrome (1983) (38)
ULLRICH-TURNER SYNDROME ASSOCIATED WITH CYSTIC MEDIAL NECROSIS OF THE AORTA AND GREAT VESSELS: CASE REPORT AND REVIEW OF THE LITERATURE. (1965) (37)
Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies. (2001) (37)
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome (2004) (37)
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome (2005) (37)
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome (2003) (37)
The CFC syndrome—report of the first two cases outside the United States (1987) (37)
Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome? (2001) (37)
Autosomal dominant and sporadic radio-ulnar synostosis. (1997) (37)
Editorial comment on the paper by de la Monte and Hutchins on familial polyasplenia (1985) (36)
Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation (1976) (36)
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. (1994) (36)
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. (1982) (36)
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. (2003) (36)
Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome (1976) (36)
A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19) (1974) (35)
Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome. (2000) (35)
Second Annual Prader‐Willi Syndrome Scientific Conference (1987) (35)
The respiratory distress syndrome (1966) (34)
Neurologic and psychometric findings in the Brachmann-De Lange syndrome. (1971) (34)
The pathology of some malformations and hereditary diseases of the respiratory tract. (1976) (34)
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes (2017) (34)
The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. (1977) (33)
Brief historical note: the concept of "gonadal dysgenesis". (1979) (33)
Geleophysic dysplasia. (1984) (33)
Interstitial deletion 2q31→q33 (1983) (33)
Lethal forms of chondrodysplastic dwarfism. (1974) (33)
Conjoined twins: Morphogenesis of the heart and a review (2003) (33)
Clinical aspects of dermatoglyphics. (1991) (33)
Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy (2011) (33)
Inherited lysosomal storage disease associated with deficiencies of β‐galactosidase and α‐neuraminidase in sheep (1988) (32)
Comments on biological asymmetry. (2001) (32)
Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993. (1994) (32)
A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25 (1982) (32)
Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. (1996) (31)
Osteogenesis imperfects type III: An ancient mutation in Africa? (1987) (31)
An evolutionary and developmental biology approach to gastroschisis. (2019) (31)
History and general overview (1986) (31)
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. (1988) (31)
The G syndrome. (1971) (31)
Cebocephaly‐holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)] (1983) (30)
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. (1995) (30)
An X-linked recessive basal ganglia disorder with mental retardation. (1985) (29)
Nager “syndrome” versus “anomaly” and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann (1987) (29)
Phenotypic variability in Townes-Brocks syndrome. (1984) (29)
Some comments on penetrance and related subjects. (1981) (29)
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. (2002) (29)
The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly (1983) (29)
THE BENIGN PROXIMAL SPINAL PROGRESSIVE MUSCULAR ATROPHIES 1 (1968) (29)
Heterogeneity and minor anomalies. (2000) (29)
Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology (1976) (29)
Wolf-Hirschhorn syndrome (WHS): a history in pictures. (2000) (28)
Chondrodysplasia punctata — Rhizomelic form (1976) (28)
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia. (1980) (28)
Rett syndrome—a review and discussion of syndrome delineation and syndrome definition (1987) (27)
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome (2003) (27)
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. (2002) (27)
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. (1990) (27)
Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development. (1976) (27)
Pathogenetic analysis of congenital anomalies in humans. (1982) (27)
Hydrolethalus syndrome: Report of an apparent mild case, literature review, and differential diagnosis (1987) (27)
Duplication 6q24 6qter in an infant from a balanced paternal translocation (1983) (26)
Analysis of etiologic factors in cerebral palsy with severe mental retardation (1976) (26)
Letter: Twinning and illegitimacy in C.N.S. defects. (1974) (26)
Anatomic studies in the 18-trisomy syndrome. (1970) (26)
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. (1999) (26)
Perrault syndrome in sisters. (1985) (26)
Splenogonadal fusion‐limb defect “syndrome” and associated malformations (2003) (26)
Sensorineural deafness in the FG syndrome: report on four new cases. (1984) (26)
TRISOMY-20 SYNDROME IN MAN (1976) (26)
Naming and nomenclature of syndromes. (1974) (26)
Lethal Osteogenesis Imperfecta–Like Condition with Cutis Laxa and Arterial Tortuosity in MZ Twins Due to a Homozygous Fibulin-4 Mutation (2012) (26)
X-linked mental retardation. Study of a large kindred with 20 affected members (1965) (25)
Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene (2008) (25)
Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited (1975) (25)
Studies of Malformation Syndromes XXVA (1971) (25)
Transient cysts of the fetal choroid plexus: Morphology and histogenesis (1987) (25)
Brachymesomelia-renal syndrome. (1983) (24)
A 72‐year‐old Danish puzzle resolved—comparative analysis of phenotypes in families with different‐sized HOXD13 polyalanine expansions (2005) (24)
Heart development: an introduction. (2000) (24)
Editorial comment on the papers by Hersh et al and Kaplan et al on sternal cleft (1985) (24)
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark–Baraitser syndrome (2005) (24)
Early recognition of the Coffin-Lowry syndrome (1981) (24)
Tetraectrodactyly and other skeletal manifestations in the fetal alcohol syndrome (1980) (24)
The Farber lecture. Prenatal and perinatal death: the future of developmental pathology. (1987) (24)
A new familial intrauterine growth retardation syndrome the “3-M syndrome” (1976) (23)
A partial trisomy 5p syndrome. (1975) (23)
Elements of morphology: Standard terminology for the external genitalia (2013) (23)
Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance". (1983) (23)
Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. (1999) (23)
Fetus‐in‐fetu form of monozygotic twinning with retroperitoneal teratoma (2003) (23)
Hypertrichosis lanuginosa in a mother and son (1976) (22)
Noonan's syndrome in the male (1965) (22)
Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). (1979) (22)
Rett syndrome: some comments on terminology and diagnosis. (1986) (22)
A new autosomal dominant acrofacial dysostosis syndrome. (1986) (22)
From DNA to Diversity: Molecular Genetics and the Evolution of Animal Design, by S.B. Carroll, J.K. Grenier, and S.D. Weatherbee (2003) (22)
Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome. (1995) (22)
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism (2010) (22)
Brief clinical report: a further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation (1986) (21)
An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. (1985) (21)
An infant with duplication of 17q21→17qter (1981) (21)
Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families. (1986) (21)
Craniosynostosis and craniosynostosis syndromes. (1969) (21)
Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia (2003) (21)
Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. (2001) (21)
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome * (1976) (20)
Smith-Lemli-Opitz syndrome in Japan. (1998) (20)
Robin sequence and oligodactyly in mother and son—probably a further example of the postaxial acrofacial dysostosis syndrome (1987) (20)
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (1988) (20)
The Genée‐Wiedemann syndrome, an acrofacial dysostosis—further observation (1987) (20)
Studies of malformation syndromes of man XXIV B: The Dubowitz syndrome. Further observations (1973) (20)
The evaluation of infants with the Zellweger (cerebro‐hepato‐renal) syndrome * (1975) (20)
Delayed Mutation as a Cause of Genetic Disease in Man: Achondroplasia and the Wiedemann-Beckwith Syndrome (1977) (20)
New, autosomal dominant form of ectodermal dysplasia (1983) (20)
Familial hemophagocytic lymphohistiocytosis: report of four cases in two families and review of the literature. (1985) (20)
Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “Craniofacial dyssynostosis” (1976) (19)
Noonan's syndrome in girls: A genocopy of the Ullrich-Turner syndrome (1965) (19)
Absence of spermatogonia in the Prader-Willi syndrome (1977) (19)
Developmental abnormalities resulting in short umbilical cord. (1993) (19)
Nerve deafness, optic nerve atrophy, and dementia: A new X‐linked recessive syndrome? (1981) (19)
An unusual dysplasia-malformation-cancer syndrome in two patients. (1978) (19)
I-Cell disease, mucolipidosis II (1973) (19)
Neonatal pneumoperitoneum and Hirschsprung's disease. (1962) (19)
Familial de Lange syndrome with chromosome abnormalities. (1966) (19)
ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE). (1965) (19)
Two children with de novo del(9p) (1983) (19)
Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies. (1987) (19)
Perinatal mortality due to interaction of diphenhydramine and temazepam. (1985) (19)
"Unstable premutation" in achondroplasia: penetrance vs phenotrance. (1984) (18)
MORTALITY AND PATHOLOGICAL FINDINGS IN C (OPITZ TRIGONOCEPHALY) SYNDROME (2006) (18)
Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndrome (1976) (18)
The Rett syndrome. (1986) (18)
Brief cytogenetic case report: A 4.5‐year‐old girl with deletion 4q syndrome — de novo, 46,XX, del(4) (pter→q31:) (1982) (18)
Asplenia in two father-son pairs. (1995) (18)
Congenital effects of bromism? (1972) (18)
A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases. (1991) (17)
Simpson‐golabi‐behmel syndrome: An X‐linked encephalo‐tropho‐schisis syndrome (1988) (17)
α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect (1974) (17)
Niemann-Pick Disease Type C (1981) (17)
Craniosynostosis in the Amish (1969) (17)
Virilism as a late manifestation in the Bardet-Biedl syndrome. (1980) (17)
The Zellweger syndrome: Book review and bibliography. The cerebro‐hepato‐renal syndrome of Zellweger. L.C.P. Govaerts. Nijmegen: Stichting Studentenpers, 1984, 195 pp. (1985) (17)
Letter: Parana hard-skin syndrome: study of seven families. (1974) (17)
Embryo and Fetal Pathology: Acknowledgments (2004) (17)
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. (1994) (17)
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. (1987) (17)
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. (1985) (17)
Letter to the editor: Familial omphalocele and recurrence risk (1984) (16)
Syndromal (and nonsyndromal) forms of male pseudohermaphroditism. (1999) (16)
Letter: Immunodeficiency in the cerebro-hepato-renal syndrome of Zellweger. (1974) (16)
PRENATAL DEATH IN FRASER SYNDROME (2005) (16)
Pathogenetic analysis of certain developmental and genetic ectodermal defects. (1988) (16)
A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11) (1982) (16)
Inheritance of Bartter syndrome. (1983) (16)
Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome (1977) (16)
Wrinkly skin syndrome: Phenotype and additional manifestations (1987) (16)
Documentation of anomalies not previously described in Fryns syndrome (2003) (16)
Palcental pathology and prenatal diagnosis of infantile type of neuronal ceroid‐lipofuscinosis (1988) (16)
Prenatal death in Smith–Lemli–Opitz/RSH syndrome (2005) (16)
Clinicopathological conference: a 29-yr-old man with recurrent episodes of fever, abdominal pain, and vomiting. (1984) (15)
Curry-Hall syndrome (1984) (15)
Invited editorial comment: Further reflections on gastroschisis (2008) (15)
Nosologic Grouping in Birth Defects (1987) (15)
Essential tremor, nystagmus and duodenal ulceration: A “new” dominantly inherited condition * (1976) (15)
Follow-up on a human X-autosome translocation first studied in 1963 and 1964. (1978) (15)
A fetus with upper limb amelia, “caudal regression” and Dandy-Walker defect with an insulin-depedent diabetic mother (1980) (15)
Ocular anomalies in malformation syndromes. (1972) (15)
The American Journal of Medical Genetics—forward (1977) (15)
Dysplasia, Malformations and Cancer, Especially with Respect to the Wiedemann-Beckwith Syndrome (1977) (15)
A case of Kabuki (Niikawa‐Kuroki) syndrome associated with manifestations resembling C‐trigonocephaly syndrome (2004) (14)
Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome. (1995) (14)
Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies (2004) (14)
An (X;14) translocation, unbalanced, 47 chromosomes. Repository identification No. GM-74. (1973) (14)
X‐linked congenital ataxia: A new locus maps to Xq25‐q27.1 (2008) (14)
Letter to the editor: Are there “innocent” amniotic bands? (1986) (14)
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes (2016) (14)
Genetic causes and workup of male and female infertility. 1. Prenatal reproductive loss. (1979) (14)
American Journal of Medical Genetics: Editorial (2001) (14)
Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity? (1986) (14)
Sudden infant death due to congenital adrenal hypoplasia. (1977) (14)
Brachmann-de Lange syndrome. A continuing enigma. (1994) (14)
Disequilibrium syndrome in Montana Hutterites. (1985) (14)
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome) (1973) (14)
Genetics and the Interaction of Blood Clotting Factors. (1966) (14)
Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency. (1982) (13)
The developmental field concept in pediatric pathology--especially with respect to fibular a/hypoplasia and the DiGeorge anomaly. (1987) (13)
The neurofaciodigitorenal (NFDR) syndrome. (1982) (13)
Considerations of Sex Chromosome Abnormalities in Man (1969) (13)
Pathology of chondrodysplasia punctata rhizomelic type. (1974) (13)
Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue. (2013) (13)
Craniocervical Anomalies in Dubowitz Syndrome (2003) (13)
Heterogeneity of nonlethal severe short-limbed dwarfism. (1977) (13)
The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. (2008) (13)
The Montana Fetal Genetic Pathology Program and a review of prenatal death in humans. (1987) (12)
Invited editorial comment: The nosology of the Smith-Lemli-Opitz syndrome (1987) (12)
Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. (2003) (12)
Studies of malformation syndromes of man XXXXIIB: Mother and son affected with the ulnar-mammary syndrome type Pallister (1976) (12)
Behold the CHILD. (2000) (12)
Teratomas in children and young adults. (1979) (12)
Invited editorial comment: Study of minor anomalies in childhood malignancy (1985) (12)
Sixty years of X-linked mental retardation: a historical footnote. (2000) (12)
Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes. (1984) (12)
Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome —A pathogenetic hypothesis (1976) (12)
The Dubowitz syndrome (2004) (12)
MENDEL: Morphologist and Mathematician Founder of Genetics – To Begin a Celebration of the 2015 Sesquicentennial of Mendel's Presentation in 1865 of his Versuche über Pflanzenhybriden (2015) (12)
An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome (2005) (11)
The developmental analysis of human congenital anomalies. (1982) (11)
A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs. (1975) (11)
Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome. (1971) (11)
2011 William Allan Award: development and evolution. (2012) (11)
Hereditary splenomegaly with hypersplenism (1974) (11)
Developmental field theory and the molecular analysis of morphogenesis: A comment on Dr. Slavkin's observations (1993) (11)
Developmental field theory and observations--accidental progress? (1986) (11)
Goethe's bone and the beginnings of morphology (2004) (11)
X-linked mental retardation (1982) (11)
Annular pancreas in mother and son (1987) (11)
Eye findings in the 13 trisomy syndrome (1977) (11)
A deletion 13q34/duplication 14q32.2–14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia (2011) (11)
Omenn disease: termination in lymphoma. (1985) (11)
Growth analysis in clinical genetics. (1985) (11)
Two Populations of Erythrocytes Associated with XX/XY Mosaicism (1965) (10)
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients (2003) (10)
ADAM “sequence” part II: Hypothesis and speculation (2015) (10)
RESTRICTIVE DERMOPATHY: REPORT AND REVIEW (2008) (10)
CONGENITAL PERINEAL HERNIA IN A FETUS WITH TRISOMY 18 (2009) (10)
Clinical variability of partial duplication 1q: A clinical report and literature review (1987) (10)
Letter to the editor: Ring Y chromosome (1986) (10)
A scanning electron microscopic study of red cells of thalassemic patients. (1987) (10)
Limb anomalies from evolutionary, developmental, and genetic perspectives. (1996) (10)
Deletion (13) (q14.1q14.3) in two generations: Variability of ocular manifestations and definition of the phenotype (1987) (10)
SEQUENTIAL FETUS-FETUS INTERACTION AND C.N.S. DEFECTS (1976) (10)
Embryo and Fetal Pathology: Color Atlas with Ultrasound Correlation (2004) (10)
Acrofacial dysostosis 1, Nager type (2003) (9)
Clinicopathologic conference: a three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment. (1980) (9)
Studies of malformation syndromes of man VB: The hypertelorism-hypospadias (BBB) syndrome (1977) (9)
Sudden death in childhood in a case of the G syndrome. (1987) (9)
Preamble to the workshop on rett syndrome (1986) (9)
Phenotypic mapping and clinical ideology. (1995) (9)
Annals of morphology. Atavisms: Phylogenetic lazarus? (2013) (9)
The risk of having a second retarded child (1987) (9)
Autopsy findings in a stillborn female infant with the Osebold-Remondini syndrome. (1985) (9)
Potter's pathology of the fetus, infant, and child (2015) (9)
The FG syndrome (1976) (9)
Development: Clinical and evolutionary considerations (2007) (9)
Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis) (1975) (9)
Gaucher disease: Accurate identification of asymptomatic French‐Canadian carrier using nonlabeled authentic sphingolipid substrate N‐palmitoyl dihydroglucocerebroside (1987) (8)
Bilateral radial deficiency with lower limb involvement. (1996) (8)
Invited comment: Gastroschisis (2007) (8)
The short umbilical cord. (1987) (8)
Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection. (2001) (8)
NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome. (1985) (8)
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. (1997) (8)
Response to Kessler: Suicide and presymptomatic testing in Huntington disease (1987) (8)
Hypertelorism and hypospadias, a newly recognized hereditary malformation syndrome (1965) (8)
CFC syndrome (2003) (8)
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome (2018) (8)
Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report (2011) (8)
Studies of malformation syndromes in man. XXVII. The N syndrome, a "new" multiple congenital anomaly-mental retardation syndrome. (1974) (8)
Pathologic changes of osteochondrodysplasia in infancy. A review. (1987) (8)
The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly (1980) (8)
An (X;14) translocation, balanced, 46 chromosomes (1973) (8)
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects (2008) (8)
Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical cases. (1988) (8)
A fifty-year-old man with skin pigmentation, arthritis, chronic renal failure and methemoglobinemia. (1983) (8)
TURNER'S SYNDROME AND PHENOTYPE (1966) (8)
Male‐to‐male transmission in Laurin–Sandrow syndrome and exclusion of RARB and RARG (2005) (8)
Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? (1989) (8)
REVIEW Resynthesizing Evolutionary and Developmental Biology (1996) (8)
Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency (2011) (8)
A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus (2017) (8)
The VSR syndrome. Studies of malformation syndromes of man XXXII. (1974) (8)
Bibliography of X-linked mental retardation and related subjects. III. (1986). (1985) (8)
Adenocarcinoma of the colon following Wilms tumor. (1980) (8)
Sudden infant death “syndrome”—Insights and future directions from a Utah population database analysis (2017) (8)
Genetic causes and workup of male and female infertility. 3. Details of the clinical evaluation. (1979) (8)
Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria. (1985) (7)
Genetic caring. the professionalization of genetic services in the USA. (1979) (7)
Heterogeneity of cardio-facio-cutaneous syndrome. (2000) (7)
Reply from Dr. Shprintzen (1987) (7)
Study of a child with an "idiopathic" malformation/mental retardation syndrome. (1975) (7)
Diagnostic/genetic studies in mental retardation. (1979) (7)
Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism. (1977) (7)
Annals of morphology THEODOR BOVERI (1862–1915) To commemorate the centenary of his death and contributions to the Sutton–Boveri hypothesis (2016) (7)
Santos syndrome is caused by mutation in the WNT7A gene (2017) (7)
Historical perspective on developmental concepts and terminology (2013) (7)
Transitory hypogammaglobulinemia of infancy in FG syndrome (2005) (7)
Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: indication of gene localization (1986) (7)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 (2004) (7)
The Perlman syndrome: clinical and biological aspects. (1985) (7)
The second conference on the clinical delineation of birth defects (1972) (7)
The campomelic syndrome--comments. (1974) (7)
Dominant inheritance of acromial skin dimples (1980) (7)
A severe infantile micromelic chondrodysplasia which resembles kniest disease (1976) (7)
Duplication 18q syndrome (1983) (7)
Genetic causes and workup of male and female infertility. 2. Abnormalities presenting between birth and adult life. (1979) (7)
Abstracts of meeting presentations (Part 5 of 11) (1979) (6)
Premature Closure of the Foramen Ovale Secondary to Congenital Aortic Valvular Stenosis in a Stillborn (2012) (6)
“DOUBLE-MUSCLE” TRAIT IN CATTLE: A POSSIBLE MODEL FOR WIEDEMANN-BECKWITH SYNDROME (2006) (6)
Familial cardiac lipidosis. (1974) (6)
Study of the Malformed Fetus and Infant (1981) (6)
Hamartoma syndromes, exome sequencing, and a protean puzzle. (2011) (6)
X-linked mental retardation 2. (1986) (6)
Early prenatal diagnosis of mucolipidosis IV (1987) (6)
Genetics in Neurology (1985) (6)
dup(4p 15→4pter) in a 19‐year‐old woman resulting from a maternal 4;14 translocation (1982) (6)
Embryo and Fetal Pathology: Abnormalities of Placenta (2004) (6)
INTRAUTERINE AMPUTATIONS AFTER AMNIOCENTESIS (1978) (6)
Y‐derived sequences detected in a 45,X male by in situ hybridization (1987) (6)
XK‐aprosencephaly and related entities (2005) (6)
Pregnancy in woman with meningomyelocele. (1973) (6)
Minamata disease (1973) (6)
Mental Retardation: Biologic Aspects of Concern to Pediatricians (1980) (6)
Genitourinary anomalies of pediatric FG syndrome. (2007) (6)
Phenotypes, pleiotropy, and phylogeny (2017) (5)
Genetic Defects of Biologically Active Proteins. (1963) (5)
Mazindol and growth hormone inhibition in Duchenne muscular dystrophy (1987) (5)
‘Crommelin-type’ symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3) (2010) (5)
Bibliography on X-linked mental retardation and related subjects II (1985). (1985) (5)
Counselling in diseases produced either by autosomal or X-linked recessive mutations. (1968) (5)
Denys-Drash Syndrome with Neonatal Renal Failure in Monozygotic Twins Due to C.1097G>A Mutation in the WT1 Gene (2011) (5)
Studies of malformation syndromes of man XXXVIII: the BD syndrome (1975) (5)
Abstracts of meeting presentations (Part 2 of 5) (1979) (5)
Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel‐anatomical collections at the University of Halle, Germany (2007) (5)
Studies of malformation syndromes in man XXXX: Multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father) (1975) (5)
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. (1998) (5)
A case of partial (9p) trisomy in a family with a balanced translocation (5)
Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31 (1983) (5)
Minamata disease. A case report and a comparative study. (1973) (5)
Editorial comment on the paper by Czeizel and Kovács on congenital diaphragmatic defects (1985) (5)
Invited editorial: Genetic triage and genetic counseling (1984) (5)
Encomium: Robert J. Gorlin (1993) (5)
Erratum: Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency (American Journal of Human Genetics (2011) 89 (28-43)) (2011) (5)
A biologic and genetic study of 40 cases of severe pure mental retardation (1977) (4)
Letter to the editor: Hemoglobin C disorders in whites (1986) (4)
Disorders of sterol biosynthesis (2016) (4)
Embryo and Fetal Pathology: The Human Embryo and Embryonic Growth Disorganization (2004) (4)
Abstracts of meeting presentations (Part 3 of 11) (1979) (4)
Chiari I malformation in patients with FG syndrome. (2005) (4)
Syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son (1985) (4)
On congenital lymphedema. (1986) (4)
THE CORNELIA DE LANGE SYNDROME. (1963) (4)
Severe short-limb dwarfism resembling Grebe chondrodysplasia (1986) (4)
Development and malformation (2002) (4)
Clinicopathologic conference: a six-month-old infant with sudden onset of metabolic acidosis and shock. (1982) (4)
Clinicopathological conference: One‐year‐old infant with hepatosplenomegaly and developmental delay (1987) (4)
Arthrodentoosteodysplasia: a genetic "acroosteolysis" syndrome. (1974) (4)
Interview: Personal account of the discovery of a new disease using next-generation sequencing (2011) (4)
Meier-Gorlin syndrome genotype-phenotype studies (2016) (4)
Polyhydramnios and neonatal hemorrhage in three sisters. A circumvallate placenta syndrome? (1974) (4)
The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote (2012) (4)
Genetics of tethered cord “syndrome” The FG syndrome (2005) (4)
The study of genetic diseases and malformations. (1977) (4)
The pathologic anatomy of the G syndrome (2004) (3)
What the General Pediatrician Should Know About Developmental Anomalies (1982) (3)
Why is the construction: Hypoplastic left heart “syndrome” a misnomer? And: What is a syndrome, anyhow? (2011) (3)
X-linked hydrocephalus. Further observations (2004) (3)
Bibliography on X-linked mental retardation, the fragile X, and related subjects V (1991). (1988) (3)
Rett syndrome bibliography. (1986) (3)
A little cholesterol in time.... (2001) (3)
Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome (2014) (3)
Erratum: Opiz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain (American Journal of Human Genetics (September 1998) 63 (703-710)) (1998) (3)
Ceroid Lipofuscinoses (Batten Disease 81 Allied Disorders) (1988) (3)
Abstracts from the 2nd NICHD conference on the RSH/SLO syndrome (1997) (3)
On the X Chromosome of Man. (1964) (3)
Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure. (1983) (3)
Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait? (1977) (3)
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome (2003) (3)
Enid Gilbert‐Barness (1987) (3)
Gastrointestinal Tract and Liver (2004) (3)
Complete absence or deficiency of one half of the body. (1998) (3)
Hemihypotrophy in a girl with a translocation t(13q;7p) (1977) (3)
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? (1996) (3)
A thermolabile variant of α-L-fucosidase—clinical and laboratory findings (1985) (3)
Reply to Bixenman et al (1984) (3)
Phenotypic effects of inherited balanced translocation. (1982) (3)
Abnormal bone development: histopathology of skeletal dysplasias. (1996) (3)
David Klein: an appreciation. (1990) (3)
Papers on Human Genetics. (1964) (3)
The KOP translocation. (1978) (3)
Medical genetics in Canada—Evolution of a hybrid discipline edited by H. C. Soltan The University of Western Ontario Regional Medical Genetics Centre, London, Ontario, Canada, 1992. 258 pp. CDN 35.00 (1993) (3)
SEGMENTATION ANOMALIES OF VERTEBRAE AND RIBS WITH OTHER ABNORMALITIES OF BLASTOGENESIS: SYNDROMES OR ASSOCIATIONS? (2005) (3)
Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly (2011) (3)
RE: Correspondence from Wieczorek & Gillessen‐Kaesbach and Hing & Parisi (2006) (2)
Congenital Malformations: Papers and Discussions Presented At the Second International Conference on Congenital Malformations. (1965) (2)
CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS (2002) (2)
The value of examining spontaneously aborted human embryos and placentas. (1987) (2)
Overgrowth Syndromes, Oxford Monographs on Medical Genetics, No. 43, by M.M. Cohen, Jr., G. Neri, and R. Weksberg (2003) (2)
Cotterman and combinatorial genetics. (1983) (2)
The developmental field concept genetics in clinical (1982) (2)
Vision and insight in the search for gene mutations causing nonsyndromal mental deficiency (2000) (2)
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. (1999) (2)
Embryo and Fetal Pathology: Fetal Autopsy (2004) (2)
Effect of maternal-fetal platelet incompatibility on fetal development. (1984) (2)
COUNSELING IN CASES OF IDIOPATHIC SYNDROMES (1982) (2)
Premutation in achondroplasia. (1988) (2)
Familial broad terminal phalanges with one individual showing additional anomalies. (1997) (2)
Diagnostic imaging: Obstetrics. Written by: Woodward PJ, Kennedy A, Sohaey R, Byrne JLB, Oh KY, Puchalski MD. Published by: Amirsys/Elsevier, Salt Lake City, UT. ISBN: 1‐4160‐2335‐6. (2007) (2)
Reply to Dr. Flannery (1989) (2)
Terminology of craniofacial anomalies. (1989) (2)
Embryo and Fetal Pathology: Cardiovascular System Defects (2004) (2)
The power of stories in Pediatrics and Genetics (2016) (2)
Symposium on surgical and medical management of congenital anomalies of the eye. (1971) (2)
In memoriam: Widukind Lenz, 1919-1995. (1996) (2)
Heritable Malformations of the Kidney and Urinary Tract (1990) (2)
Hans-Rudolf Wiedemann: an appreciation. (1992) (2)
Gene dosage effects in trisomy: comment on a recent article by B. L. Shapiro. (1983) (2)
Unusual combination of genetic defects in a Sicilian boy: Gγ Aγ δβ thalassemia, Gγ Aγ heterocellular HPFH, βº thalassemia, and albinism (1983) (2)
The pathologist's perspective of genetic disease. Malformations and dysmorphology. (1989) (2)
DEVELOPMENTAL MIXOPLOIDY AND TRISOMY-20 SYNDROME (1976) (2)
Embryo and Fetal Pathology: Central Nervous System Defects (2004) (2)
Biographical note--Laurence H. Snyder. (1981) (2)
Ethical and legal aspects of genetics (1983) (2)
Arthur G. Steinberg: an appreciation. (1995) (2)
In honor or Jörgen Spranger at 65 (1996) (2)
Reply to Drs. Meinecke and Wiedemann (1987) (2)
Pathology of chromosome abnormalities in the fetus--pathologic markers. (1987) (2)
Note to our readers (1982) (2)
Prenatal diagnosis policy in neural tube defects (1987) (2)
Diffuse angiokeratosis (Fabry's disease) in children (1964) (2)
Bibliography on X-linked mental retardation, the fragile X and related subjects IV (1988). (1988) (2)
The W syndrome. Studies of malformation syndromes of man XXVIII. (1974) (2)
Charles W. Cotterman (1989) (2)
Invited editorial comment on Dr. Holtzman's paper (1983) (2)
Pseudoaminopterin syndrome and trisomy 9 (2004) (2)
Generalized lymphangiectasis associated with chylothorax; a possible dysplasia of the lymphatic system (2004) (2)
[Developmental abnormalities in humans]. (1991) (2)
Reply to Dr. Pitt (1986) (2)
Feminising testes syndrome. (1971) (1)
The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies (2013) (1)
A chicken consultation with ramifications (2005) (1)
Genetic patient evaluation. (1977) (1)
Letter: Trisomy-20 syndrome in man. (1976) (1)
Arno G. Motulsky, 1923–2018, Luck and Service (2018) (1)
An (X;14) translocation, balanced, 46 chromosomes. Repository identification No. GM-73. (1973) (1)
Embryo and Fetal Pathology: Multiple Gestations and Conjoined Twins (2004) (1)
Response to laron, letter to the editor (24:547-548, 1986) (1986) (1)
Studies of malformation syndromes VID: The G syndrome. Further observations (1974) (1)
The respiratory distress syndrome. Risk related to maternal factors. (1966) (1)
Letter: Immunodeficiency in the cerebro-hepato-renal syndrome of Zellweger. (1974) (1)
Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease (1977) (1)
Blastogenesis : normal and abormal : proceedings of the Second International Workshop on Fetal Genetic Pathology, held at Big Sky, Montana, October 12-16, 1991 (1993) (1)
An amnion implantation hypothesis: A conceptual framework for mechanism‐based studies of amnion adhesion (2014) (1)
Scott Rogers on dinosaur behavior, in: The Annals of Morphology (2005) (1)
Fetal Hydrops and Cystic Hygroma (2004) (1)
Embryo and Fetal Pathology: Preface (2004) (1)
Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients. Scalco et al. Genetics and Molecular Biology (this issue) (2006) (1)
Reply to the letter to the editor by Hook (1985) (1)
The Miller-Dieker Syndrome (1980) (1)
Pathogenesis of Sirenomelia with Anencephaly and Other Midline Defects† 364 (1998) (1)
Evolution in the clinic: Maladaptive units and “minor anomalies” (2022) (1)
Familial hydronephrosis (2004) (1)
Human pedigree studies (2000) (1)
Reply to Dr. Wellesley (1988) (1)
Introduction—A Pallister Jubilee (2014) (1)
Origin of a paternal (13q; 15q) translocation leading to dup(13q) in two half sibs (1983) (1)
Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome (2004) (1)
Embryo and Fetal Pathology: Late Fetal Death, Stillbirth, and Neonatal Death (2004) (1)
Embryo and Fetal Pathology: Respiratory System (2004) (1)
Syndrome delineation. 1. Malformations and dysplasias. (1979) (1)
Meinhard Robinow: an appreciation. (1995) (1)
Reply to Drs. Journel and LeMarec (1989) (1)
Ceroid-lipofuscinoses : Batten disease and allied disorders : proceedings of the International Conference on Ceroid-Lipofuscinoses, held on Staten Island, New York, April 30 and May 1, 1987 (1988) (1)
Acceptance of the clinical genetics award from the March of Dimes (1986) (1)
Comments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiens (1980) (1)
Neural crest and craniofacial disorders: summary and conclusions (1988) (1)
Otto Ullrich: an appreciation. (1991) (1)
Of mice and cats (both calico): Mary F Lyon, FRS (1925–2014) (2015) (1)
Obituary: Charles W. Cotterman. (1989) (1)
Advantages of amniocyte clones for prenatal cytogenetics (1982) (1)
Encomium and dedication: Angelo Serra--four decades in human and medical genetics. (2005) (1)
Comment by Raoul C. M. Hennekam on the letter to the editor by Flannery (1989) (1)
Genetics and the Wiley Bicentenary : A Brief Look Backwards, or the Origin of Mendelism From Morphology, and Present and Future Perspectives (2007) (1)
Syndrome delineation. 2. Inborn errors of metabolism, deformities, and variant familial developmental patterns. (1979) (1)
Progress in Medical Genetics. Vol. II (1963) (1)
Book reviewISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Shaffer LG, McGowan‐Jordan J, Schmid M, editors. Published in collaboration with Cytogenetic and Genome Research by Karger, Basel. VI and 140 pp. plus fold‐out, 11 Fig. 4 tables. (2013) (1)
50 years ago in The Journal of Pediatrics: the Cornelia de Lange syndrome. (2013) (1)
On the publication and the editorial policies of the American Journal of Medical Genetics (1977) (1)
Colophon: Vere dignum et justum est … An unedited MS (2006) (1)
X-linked mental retardation 3. Proceedings of the Third International Workshop on Fragile X and X-linked Mental Retardation. Troina, Italy, September 13-16, 1987. (1988) (1)
Genetic services: Necessity or luxury? (1983) (1)
The N syndrome, a “new” multiple congenital anomaly‐mental retardation syndrome:Studies of malformation syndromes in man XXVII (1974) (1)
Gastroschisis and associated defects : An international study. Commentary (2007) (1)
Index rerum ad Vol. 18 (1968) (1)
Different CNS defects in MZ twins (1986) (0)
A syndrome of hypohidrotic (0)
Embryo and Fetal Pathology: Foreword by John M. Opitz (2004) (0)
Response to the first Meckel oration by Sewall Wright. (1984) (0)
A living past: Introduction to the section on history of the American Journal of Medical Genetics (1991) (0)
Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges (1998) (0)
Neural crest and craniofacial disorders : genetic aspects : proceedings of the March of Dimes Clinical Genetics Conference, Minneapolis, MN. 1987 (1988) (0)
Recent Advances in Human Genetics (1961) (0)
338 THE FG SYNDROME: FROM 1974-2004 (2005) (0)
Fetology: Diagnosis and Management of the Fetal Patient, by D.W. Bianchi, T.M. Crombleholme, and M.E. D'Alton (2003) (0)
Editor's note to authors of the Taysi paper (1985) (0)
Remembered: Elisabeth G. Kaveggia (2015) (0)
Apparent encephalocele in twin fetus papyraceus with twin‐reversal arterial perfusion (2003) (0)
Response to Bialer and Wilson (1988) (0)
Timeo danaos... (1998) (0)
[Developmental disorders of man. Part 2]. (1992) (0)
Introduction to medical genetics. II. The cytologic basis of heredity. (1961) (0)
Editor's acknowledgement (1980) (0)
Clinical cytogenetics: part 2. (1978) (0)
Encomium: Oswaldo Frota-Pessoa. (1996) (0)
The days of our age: the American Journal of Medical Genetics in the next millenium. (2000) (0)
Clinical genetics on the road: In family studies go after the oldest living relatives (1982) (0)
Response to lammer and cordero (1985) (0)
Embryo and Fetal Pathology: Metabolic Diseases (2004) (0)
Embryo and Fetal Pathology: Disruptions and Amnion Rupture Sequence (2004) (0)
Embryo and Fetal Pathology: Fetal and Neonatal Skin Disorders (2004) (0)
Human Development and Malformations: Evolutionary, Genetic and Morphogenetic Perspectives (2008) (0)
Table of Contents, Volume 170A, Number 10, October 2016 (2016) (0)
Heterogeneity dwarfism of nonlethal severe short-limbed (1977) (0)
THE KQ SYNDROME (1974) (0)
Progress in clinical and biological research, volume 104, skeletal dysplasias. Proceedings of the Third International Clinical Genetics Seminar held in Athens, Greece, May 9–13, 1982, Costas J. Papadatos and Christos S. Bartsocas, editors. New York: Alan R. Liss, Inc., 1982 (1985) (0)
Embryo and Fetal Pathology: Craniofacial Defects (2004) (0)
nascimento da filosofia a seus significados (2009) (0)
Editorial comment on the CPC by Tripp et al: "Fever and abdominal pain in a young woman with the Down syndrome and Eisenmenger complex": Down syndrome and death of the mentally retarded. (1983) (0)
Embryo and Fetal Pathology: Appendices (2004) (0)
A new syndrome (1982) (0)
Acrofacial dysostosis 1 , Nager type Author : Professor (2004) (0)
A History of Genetics. (1966) (0)
Contents, Vol. 18, 1968 (1968) (0)
Second Pallister‐Opitz Genetics Symposium, Helena, Montana, July 2015 (2016) (0)
Human Chromosome Methodology. (1966) (0)
Genetics and Metabolism. (1964) (0)
Anatomic studies in the 18-trisomy syndorome . The unusual skeletal findings of the Kuskokwin syndrome . A recessively inherited chondrodystrophy (1970) (0)
In gratitude for an undeserved gift* (2017) (0)
The FG Syndrome from a Pathological Perspective (2011) (0)
Reply to Dr. Szalay (1985) (0)
Genetic counseling. (1980) (0)
Research Review XK-Aprosencephaly and Related Entities (2005) (0)
Rett syndrome bibliography II, 1987 (1987) (0)
Arthur Robinson--an appreciation. (1990) (0)
Embryo and Fetal Pathology: Terminology of Errors of Morphogenesis (2004) (0)
Response to Dr. Kunze (1986) (0)
The history of a genetic disease: Duchenne muscular dystrophy or Meryon's disease (1998) (0)
X-linked mental retardation 2 : proceedings of the Second International Workshop on Fragile X and X-linked Mental Retardation held on Dunk Island, Australia, August 20-23, 1985 (1986) (0)
Variation in neuronal storage in α‐L‐iduronidase deficiency (1985) (0)
Hans-Rudolf Wiedemann: an appreciation. (1980) (0)
Letter to the editor: Heterogeneity of β thalassemia (1986) (0)
James V. Neel (1999) (0)
Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency (2011) (0)
Garrod's Inborn Errors of Metabolism. (1964) (0)
On Dr. Ledbetter's proposal (1991) (0)
The face in genetic disorders. (1972) (0)
Reply to Dr. Allanson and co‐authors regarding clinical illustrations in the American Journal of Medical Genetics (1997) (0)
Introduction of Sewall Wright on the occasion of receiving the first Meckel medal and prize in mammalian developmental genetics. (1984) (0)
Galton, David J. 2015. Man of Science, Man of God—Gregor Mendel—Discovering the Gene—For his 150th anniversary. Great Britain, Timaeus Press, 227 pp. Paperback—Proofs received for review. Price? (2016) (0)
Editorial comment on McPherson and Cold (2016) (0)
Embryo and Fetal Pathology: Intrauterine Growth Retardation (2004) (0)
Philip D. Pallister of Montana (2018) (0)
Evolutionary pathways in nature: A phylogenetic approach. By John C. Avise. Cambridge University Press, New York, 2006, 286 p.† (2006) (0)
Genetics and Disease. (1966) (0)
Categorization of common arterial trunk. (2011) (0)
To special series: practical genetics (1977) (0)
Editor's note regarding Fitch and Schinzel (1988) (0)
New section on animal models. (1983) (0)
With gratitude to the anonymous reviewers (1996) (0)
Autosomal dominant recurrent encephalopathy of childhood. (1983) (0)
Response to Li and Liu's “Darwin's statements on reversion or atavism” (2014) (0)
Reply: Resynthesis Or Revisionism? (1996) (0)
Topics in pediatric genetic pathology: the Enid Gilbert-Barness festschrift. (1987) (0)
The Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment (2019) (0)
Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges. (1998) (0)
Response to the letter to the editor by MacFadyen and Young (1987) (0)
Living history biography: An afterthought (2021) (0)
Reply to F. Giannelli: Theoretical expectations for deletional mutations in Duchenne muscular dystrophy (1988) (0)
Gene regulation and fetal development : proceedings of the Third International Workshop on Fetal Genetic Pathology, held in Perugia, Italy, June 3-6, 1993 (1996) (0)
James Van Gundia Neel, papers, ca. 1935-1999 (2014) (0)
Editorial help (2004) (0)
Rejoinder to Dr. Hunter (1985) (0)
Comptes rendus du 1er congres international de neuro-genetique et neuro-ophtalmologie (Albi France, 27–30 May 1965). (1969) (0)
Book review: Developmental Biology Ed 9 by SF, Gilbert MA, Sunderland Sinauer Associates. ISBN: 978-0-87893-384-6† (2012) (0)
Clinical cytogenetics: part 1. (1978) (0)
Letter: Developmental mixoploidy and trisomy-20 syndrome. (1976) (0)
PROGRESS IN MEDICAL GENETICS (1964) (0)
Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH (2016) (0)
ELEMENTARY GENETICS (1963) (0)
Colophon: on doing morphology. (1996) (0)
Robert Layman Summitt, M.D. 1932-1998. (1999) (0)
Supplement A Attacking the Adequacy of Evo-devo For an example of how Meyer assesses evo-devo independently as inadequate to account for the macroevolution of new body plans in the Cambrian, consider his treatment of Wallace Arthur’s (2019) (0)
Remembered: F. Clarke Fraser (2015) (0)
Paramyotonia congenita (eulenburg). (1971) (0)
Jacqueline A. Noonan (2020) (0)
Using VAAST and massively parallel sequencing to characterize a novel disorder caused by protein N-terminal acetyltransferase deficiency (2012) (0)
Heterogeneity and minor anomalies. (2000) (0)
The birth of a national clinical genetics conference (1986) (0)
Dronamraju K, Francomano CA. (eds). 2012. Victor McKusick and the history of medical genetics. New York, Springer Science and Business Media. ISBN 978‐1‐4614‐1676‐0 (1677‐7 ebook); Library of Congress Control No: 2012938639. Price: $189.00. (2013) (0)
An inner god: BEN E. KATZ (1921–2015) as geneticist (2015) (0)
Comprar Human Development and Malformations: Evolutionary, Genetic and Morphogenetic Perspectives | John M. Opitz | 9780471235972 | Wiley (2008) (0)
Drs. Roubicek and spranger reply to Dr. Wassman (1985) (0)
Catalog of mapped human gene markers. (1980) (0)
Embryo and Fetal Pathology: Congenital Tumors (2004) (0)
LETTER TO THE EDITOR—Fraser Syndrome (2008) (0)
Embryo and Fetal Pathology: Ultrasound of Embryo and Fetus: General Principles (2004) (0)
The genetics of tethered cord syndrome. Commentary (2005) (0)
First International Congress on mucopolysaccharidosis and related diseases - 70 years of research, university of Minnesota, Minneapolis, May 20–23, 1988 (1989) (0)
Editorial comment on the papers by Wilson and Hayden and Wilson and Baird on renal agenesis (1985) (0)
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome (2018) (0)
Principles of Genetics. (1966) (0)
Embryo and Fetal Pathology: Chromosomal Abnormalities in the Embryo and Fetus (2004) (0)
FRASER SYNDROME (2008) (0)
Methodology in Human Genetics (1963) (0)
A close relationship to Smith-Lemli-Opitz (RSH) patients positively correlates with an increased incidence of high cholesterol, late-onset diabetes, and infertility; and negatively correlates with alcoholism (2000) (0)
Harold Francis Falls: eye geneticist and pioneer American medical geneticist. (1992) (0)
Response from Dr. Beemer and colleagues (1987) (0)
Editor's note to authors of the Leung et al paper (1985) (0)
Letters to the Editor (2009) (0)
In gratitude to the anonymous reviewer (1978) (0)
Recent advances in ectodermal dysplasias : Eighth Annual Symposium of the Society of Craniofacial Genetics, held at Calloway Gardens, California, July 1985 (1988) (0)
To the Editor: Concerning Rajagopal MD et al. (2016) (0)
The rett syndrome bibliography III, 1989 (1990) (0)
Congenital Abnormalities in Infancy. (1964) (0)
Principles of genetics applied to medicine. (1977) (0)
Reply to Sheffield et al (1987) (0)
Comment: The midline (2015) (0)
The de Lange syndrome (1972) (0)
Workshop on the Rett Syndrome (1987) (0)
Book Reviews : Mental Retardation. An Atlas of Diseases with Associated Physical Abnormalities (1973) (0)
Response to Dr. Milunsky (1983) (0)
Letter to the Editors (1980) (0)
Medical Genetic Studies in the Amish : Historical Perspective (2003) (0)
Genetics for the Clinician. (1963) (0)
GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001–2016 (2016) (0)
Dominant inheritance of nose pits (1982) (0)
Appreciation: James V. Neel. (1999) (0)
Subject Index Vol. 25, 1979 (1979) (0)
PROBABLE SECOND FETUS WITH MARLES-CHUDLEY SYNDROME: CARDIAC CALCIFICATIONS WITH ULNAR DEFICIENCY AND ABSENT/HYPOPLASTIC THUMBS (2004) (0)
Opitz-Kaveggia (FG) and Lujan syndromes are allelic having mutations in the MED12 gene (2007) (0)
Editorial note regarding Willems on pleiotropy in hydrocephalus (1988) (0)
Principles and practice of medical genetics, two volumes, second edition. Edited by A.E.H. Emery and D.L. Rimoin; Assoc. Ed., J.A. Sofaer. Edinborough, Churchill Livingstone, 1990. 2035 pp plus index. $255 (1993) (0)
Embryo and Fetal Pathology: Intrauterine Infection (2004) (0)
Genes and Mechanisms in Vertebrate Sex Determination, The Genetics and Biology of Sex Determination. (2003) (0)
To the Editor: Concerning Rodriguez et al. (2015) (0)
The respiratory distress syndrome (RDS) and the high risk mother: A genetic hypothesis (1965) (0)
Cytogenetic investigations of an infant with a translocation chromosome of the Townes-Ziegler type (1965) (0)
Editorial help (2004) (0)
Embryo and Fetal Pathology: Skeletal Abnormalities (2004) (0)
An Atlas of Multiple Pregnancy: Biology and Pathology, by G.A. Machlin and L.G. Keith (1999) (0)
Prolegomenon to the study of human syndromes (1975) (0)
Hans-Rudolf Wiedermann: An appreciation (1980) (0)
Book review: Craniofacial Embryogenetics and Development. 2nd edition. By Sperber GH, Sperber SM, Guttman GD, editors. People's Medical Publishing House, Shelton CT, 2010. pp. 250. (ISBN 10: 1–60795–032–4) (2012) (0)
Embryo and Fetal Pathology: Malformation Syndromes (2004) (0)
Hemodynamic mechanisms in cardiac malformations. (1993) (0)
Summary of the meeting in clinical genetics (1986) (0)

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