David Rimoin

Q: What Schools Are Affiliated With David Rimoin

David Rimoin is affiliated with the following schools: Washington University in St. Louis, McGill University, University of California, Los Angeles, University of Manitoba, Johns Hopkins University

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Biology
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David Rimoin's Degrees

Doctorate Medicine University of Manitoba
PhD Medical Genetics University of Manitoba

Why Is David Rimoin Influential?

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According to Wikipedia, David Lawrence Rimoin was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia , inheritable diseases such as Tay–Sachs disease, and diabetes.

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David Rimoin's Published Works

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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

Central challenges facing the national clinical research enterprise. (2003) (1190)
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (1997) (740)
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision (2011) (665)
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 (1995) (579)
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene (1995) (487)
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. (1973) (451)
Principles and Practice of Medical Genetics (1990) (419)
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis (1999) (332)
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis (2004) (248)
Standard growth curves for achondroplasia. (1978) (241)
Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome (1999) (226)
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene (1996) (222)
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. (1989) (211)
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia (2008) (206)
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta (2008) (203)
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (2011) (198)
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. (1984) (192)
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. (1996) (186)
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (2009) (172)
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (1998) (167)
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias (2009) (162)
PACHYDERMOPERIOSTOSIS (IDIOPATHIC CLUBBING AND PERIOSTOSIS): GENETIC AND PHYSIOLOGIC CONSIDERATIONS. (1965) (149)
Genetics of Diabetes Mellitus (1967) (141)
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. (1999) (141)
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. (1998) (137)
Morphologic studies in the skeletal dysplasias. (1979) (136)
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. (1979) (134)
The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity. (1983) (132)
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. (2009) (132)
Molecular-pathogenetic classification of genetic disorders of the skeleton. (2001) (129)
Exome sequencing identifies PDE4D mutations in acrodysostosis. (2012) (129)
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (2009) (129)
CLASSIFICATION OF OSTEOGENESIS IMPERFECTA (1978) (126)
Genetic and clinical heterogeneity in the oral-facial-digital syndromes. (1967) (126)
Plasma growth hormone after arginine infusion. Clinical experiences. (1967) (126)
International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone (1998) (125)
Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias (2003) (121)
Clinical research in the United States at a crossroads: proposal for a novel public-private partnership to establish a national clinical research enterprise. (2004) (115)
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB (2006) (113)
Genetic disorders of the endocrine glands (1971) (112)
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. (1996) (111)
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. (1984) (110)
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. (1976) (108)
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. (1990) (106)
HLA Genotypic Study of Insulin-dependent Diabetes: The Excess of DR3/DR4 Heterozygotes Allows Rejection of the Recessive Hypothesis (1983) (106)
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. (1999) (105)
Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. (1996) (101)
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. (1995) (101)
The lacrimo-auriculo-dento-digital syndrome. (1973) (101)
Multiple cell origin of hereditary neurofibromas. (1971) (100)
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human (2007) (100)
Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. (1985) (97)
Macrocephaly with multiple lipomas and hemangiomas. (1976) (94)
A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. (2009) (92)
International nomenclature of constitutional diseases of bone (1978) (92)
Growth-Hormone Deficiency in Man: An Isolated, Recessively Inherited Defect (1966) (88)
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. (1999) (88)
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type (1995) (88)
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A (2012) (85)
Endochondral ossification in achondroplastic dwarfism. (1970) (85)
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP (2002) (84)
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. (2001) (83)
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. (1968) (82)
Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. (1985) (79)
A new autosomal recessive lethal chondrodystrophy with congenital hydrops. (1988) (78)
Prenatal diagnosis of the skeletal dysplasias. (1993) (78)
Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis (2008) (76)
Neutral Endopeptidase-Resistant C-Type Natriuretic Peptide Variant Represents a New Therapeutic Approach for Treatment of Fibroblast Growth Factor Receptor 3–Related Dwarfism (2015) (75)
Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. (1975) (75)
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (1982) (75)
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene (2005) (74)
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. (2013) (73)
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. (1989) (73)
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)
International classification of osteochondrodysplasias (1992) (72)
Heterogeneity in the campomelic syndromes. Long-and short-bone varieties. (1976) (72)
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. (1992) (72)
The G deletion syndromes. (1970) (70)
Inheritance of diabetes mellitus. (1971) (69)
CLOSE GENETIC LINKAGE BETWEEN DIABETES MELLITUS AND KIDD BLOOD GROUP (1981) (69)
Peripheral unresponsiveness to human growth hormone in Laron dwarfism. (1980) (67)
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. (1998) (67)
The skeletal dysplasias (2010) (67)
Alkaline and acid phosphatase demonstration in human bone and cartilage: effects of fixation interval and methacrylate embedments. (1988) (67)
Mutations in two regions of FLNB result in atelosteogenesis I and III (2006) (66)
Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. (1968) (66)
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. (1988) (66)
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype (2001) (64)
The Kniest syndrome. (1975) (64)
Small deletions in the type II collagen triple helix produce kniest dysplasia. (1999) (63)
Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (2000) (63)
The phenotypic variability of diastrophic dysplasia. (1978) (63)
Metabolic studies in the African pygmy. (1972) (63)
Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. (1979) (62)
Brachyolmia: radiographic and genetic evidence of heterogeneity. (1989) (61)
Dominant inheritance of cerebral gigantism. (1977) (60)
Genetic aspects of clinical endocrinology. (1968) (60)
Peripheral subresponsiveness to human growth hormone in the African pygmies. (1969) (59)
Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly. (1988) (59)
Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study (2012) (58)
Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings (2005) (58)
Acute septic arthritis complicating chronic rheumatoid arthritis. (1966) (58)
Classification of osteogenesis imperfect. (1978) (57)
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. (2003) (55)
The Erlenmeyer flask bone deformity in the skeletal dysplasias (2009) (55)
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). (1988) (54)
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. (1998) (53)
Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families (2002) (52)
Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasia a (1996) (52)
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia (2005) (52)
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. (1993) (51)
The Clinical Spectrum of Lumbar Spine Disease in Achondroplasia (1982) (51)
The Skeletal Dysplasias (2007) (51)
The Winchester syndrome: a nonlysosomal connective tissue disease. (1974) (51)
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. (1994) (50)
Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity. (1987) (49)
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia. (1982) (47)
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry (2014) (47)
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. (1998) (46)
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). (1984) (46)
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. (1993) (45)
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. (1977) (45)
Lactation in the absence of human growth hormone. (1968) (44)
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. (1995) (43)
Chondro-osseous pathology in the chondrodystrophies. (1976) (43)
Ethnic variability in glucose tolerance and insulin secretion. (1969) (43)
Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation* (1998) (43)
The skeletal dysplasias. (2002) (43)
Isolated human growth hormone deficiency. 3. Insulin secretion in sexual ateliotic dwarfism. (1968) (43)
Spondylometepiphyseal dysplasia, Strudwick type. (1982) (43)
Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. (1973) (42)
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. (1993) (42)
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. (1994) (42)
The facial-digital-genital (Aarskog) syndrome. (1973) (41)
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. (1994) (41)
Molecular defects in the chondrodysplasias. (1996) (40)
Histologic studies in the chondrodystrophies. (1974) (39)
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. (1985) (39)
A metabolic and hormonal basis for classifying ateliotic dwarfs. (1969) (39)
A search for heterogeneity in insulin dependent diabetes mellitus (IDDM): HLA and autoimmune studies in simplex, multiplex and multigenerational families. (1983) (38)
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. (1986) (38)
Inheritance in diabetes mellitus. (1976) (37)
Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature. (2012) (37)
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (2001) (37)
Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006) (2007) (36)
Mesomelic skeletal dysplasias. (1976) (36)
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia. (1998) (36)
Metaphyseal chondrodysplasia, Schmid type Clinical and radiographic deliniation with a review of the literature (2006) (36)
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. (1990) (35)
A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans a (1996) (35)
Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome. (1986) (35)
Diastrophic dysplasia: the death of a variant. (1981) (34)
Variable expression of the Holt-Oram syndrome. (1974) (34)
Kniest Dysplasia. A Histochemical Study of the Growth Plate (1979) (34)
An embedding method for histochemical studies of undecalcified skeletal growth plate. (1980) (34)
The chondrodystrophies. (1975) (33)
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. (2010) (33)
An unusual variety of endocrine dwarfism: subresponsiveness to growth hormone in a sexually mature dwarf. (1968) (33)
Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. (1989) (33)
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. (1995) (33)
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. (1990) (32)
Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. (1995) (31)
Audiological findings of patients with achondroplasia. (1981) (31)
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. (1990) (31)
Diabetes mellitus among the Navajo. I. Clinical features. (1968) (31)
Skeletal dysplasias. (2004) (30)
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. (2014) (30)
Ovarian cysts on prenatal MRI. (2012) (30)
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. (1986) (30)
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. (2011) (30)
Nephronophthisis associated with Ellis-van Creveld syndrome (1998) (29)
Ultrastructure of cartilage in the Hurler and Sanfilippo syndromes. (1972) (29)
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. (2007) (29)
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia. (1985) (29)
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. (1986) (28)
The scapula as a window to the diagnosis of skeletal dysplasias (1997) (27)
Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate (1979) (27)
Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features (2012) (26)
Segregation of an insertional chromosome rearrangement in 3 generations. (1978) (26)
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. (1990) (26)
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. (1996) (26)
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. (2002) (26)
Tumor disease and associated congenital abnormalities on prenatal MRI. (2012) (25)
Genetic screening in the Persian Jewish community: A pilot study (2010) (25)
Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes. (1991) (25)
International nomenclature of constitutional diseases of bone. Revision--May, 1977. (1978) (24)
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases (2003) (24)
Prenatal diagnosis of osteogenesis imperfecta type III (1987) (24)
Fetal akinesia and associated abnormalities on prenatal MRI (2011) (24)
Short stature. Part II. (1978) (24)
Congenital deafness and multiple lentigines. A report of cases in a mother and daughter. (1969) (24)
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix (1994) (24)
General Tom Thumb and other midgets. (1967) (24)
Fibrochondrogenesis: radiologic and histologic studies. (1984) (23)
The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression. (1977) (23)
The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies. (1975) (23)
Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation. (1985) (23)
Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1. (2014) (23)
The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia. (1985) (23)
MR imaging of the fetal musculoskeletal system (2012) (23)
Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias. (1976) (22)
The skeleton and musculature on foetal MRI (2011) (22)
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. (1992) (21)
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type (2000) (21)
Abnormal type II collagen in the spondyloepiphyseal dysplasias. (1988) (21)
Clubfeet and associated abnormalities on fetal magnetic resonance imaging (2012) (21)
Dysosteosclerosis. (2020) (20)
Sexual ateliotic dwarfism: a recessively inherited isolated deficiency of growth hormone. (1966) (20)
The Floating-Harbor syndrome. (1975) (20)
Health‐Related Quality of Life in Children and Young Adults with Marfan Syndrome (2019) (20)
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia. (1997) (20)
An oculocerebrofacial syndrome. (1971) (20)
A History of Medical Genetics in Pediatrics (2004) (19)
Hearing loss and temporal bone structure in achondroplasia. (1993) (19)
Cooperative research ethics review boards: a win-win solution? (2005) (19)
Prenatal diagnosis of asphyxiating thoracic dysplasia. (1984) (19)
Familial agoitrous cretinism accompanied by musclar hypertrophy. (1968) (19)
Abnormalities of the upper extremities on fetal magnetic resonance imaging (2011) (19)
The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type (2007) (18)
Beta-glucuronidase deficiency mucopolysaccharidosis. (1974) (18)
Metabolic effects of human growth hormone in the African pygmy. (1968) (18)
A unique chondrodysplasia secondary to a defect in chondroosseous transformation. (1977) (18)
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses. (2013) (17)
International nomenclature of constitutional diseases of bone. Revision, May, 1977. (1978) (17)
Quantitative Histology of Cartilage Cell Columns in the Human Costochondral Junction: Findings in Newborn and Pediatric Subjects (1989) (17)
Growth hormone in African pygmies. (1967) (17)
New mesomelic dysplasia with absent fibulae and triangular tibiae. (2000) (17)
Diabetes mellitus among the Navajo. II. Plasma glucose and insulin responses. (1968) (17)
Histological and ultrastructural studies in isolated growth hormone deficiency. (1973) (17)
Hand involvement in Schmid metaphyseal chondrodysplasia (2005) (17)
Microcephalic osteodysplastic dysplasia. (1994) (16)
Abnormalities of the penis in utero – hypospadias on fetal MRI (2011) (16)
Mutation (variation) databases and registries: a rationale for coordination of efforts (2011) (16)
Short stature--physiology and pathology. (1986) (16)
Nature and Frequency of Genetic Disease (2013) (16)
Histopathologic examination in osteochondrodysplasia. Time for standardization. (1986) (16)
The Genetics of Diabetes Mellitus (1973) (15)
Exome Sequencing Identifies PDE 4 D Mutations in Acrodysostosis (2012) (15)
Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia (2008) (15)
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family) (2011) (15)
Genetic homogeneity of cartilage-hair hypoplasia (1995) (15)
International nomenclature of constitutional diseases of bone with bibliography. (1979) (14)
PHENOTYPIC VARIATION IN ALPHA-L-IDURONIDASE DEFICIENCY (1975) (14)
Ehlers–Danlos type VIII, periodontitis‐type: Further delineation of the syndrome in a four‐generation pedigree (2011) (14)
Spondylometaphyseal dysplasia, Sedaghatian type. (1992) (14)
Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes (2000) (14)
GENETIC HETEROGENEITY IN PEPTIC ULCER (1979) (14)
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. (1997) (14)
Cervicomedullary compression with achondroplasia. (1988) (14)
A new skeletal dysplasia: clinical, radiologic, and pathologic findings. (1986) (13)
Emery and Rimoin's Essential Medical Genetics (2013) (13)
Genetic Syndromes Associated with Glucose Intolerance (1976) (13)
Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother. (1990) (13)
New epiphyseal stippling syndrome with osteoclastic hyperplasia. (1993) (13)
Neonatal dwarfism. (1978) (13)
Hereditary forms of growth hormone deficiency and resistance. (1976) (13)
Heterogeneity of nonlethal severe short-limbed dwarfism. (1977) (13)
Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]. (2012) (12)
Penile biometry on prenatal magnetic resonance imaging (2012) (12)
Metabolic studies in the African pygmy. (1972) (12)
Kniest dysplasia: a probable type II collagen defect. (1988) (12)
Single-strand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs. (1994) (12)
Isolated growth hormone deficiency: immunocytochemistry. (1984) (12)
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia (2012) (12)
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type (1998) (12)
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. (1998) (11)
The American College of Medical Genetics, the first 20 years (2011) (11)
INHERITANCE OF IMMUNOGLOBULIN LIGHT-CHAIN GENES IN PAIRS OF SIBLINGS WITH INSULIN-DEPENDENT DIABETES MELLITUS (1984) (11)
A new category of lethal short-limbed dwarfism. (1986) (11)
Pacman dysplasia: report of two affected sibs. (1998) (11)
Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro‐osseous morphology (2006) (11)
Psychiatric aspects of dwarfism. (1976) (11)
Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra‐familial variability (1993) (11)
Growth curves in achondroplasia. (1977) (11)
Male genital abnormalities in intrauterine growth restriction (2012) (11)
Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: Lack of association between type 1 diabetes and kidd blood group (1983) (10)
Nephrogenic diabetes insipidus in a Negro kindred. (1970) (10)
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology. (2000) (10)
Female external genitalia on fetal magnetic resonance imaging (2011) (10)
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder (2013) (10)
Human variome project country nodes: Documenting genetic information within a country (2012) (10)
Clinical variability in achondroplasia. (1988) (10)
LSD exposure in utero. (1970) (9)
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. (2000) (9)
New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. (1993) (9)
“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias (2001) (9)
The pygmy (pg) mutant of the mouse--a model of the human pygmy. (1972) (9)
Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease. (1976) (9)
A Diagnostic Approach to Skeletal Dysplasias (2012) (9)
Histologic heterogeneity in the hyperostotic bone dysplasias. (1976) (9)
The Kniest syndrome. (1975) (9)
Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation. (1975) (9)
Congenital macular colobomas and short-limb skeletal dysplasia. (1980) (9)
Atlas of fetal skeletal radiology (1987) (9)
Lacrimo-auriculo-dento-digital (LADD) syndrome. (1974) (9)
A lethal form of diastrophic dwarfism. (1974) (8)
A new autosomal dominant syndrome of hypohidrotic ectodermal dysplasia and unusual facies. (1979) (8)
Arthrography of the hip. A clue to the pathogenesis of the epiphyseal dysplasias. (1973) (8)
Short stature. Part I. (1978) (8)
Chromatin-negative hypogonadism in phenotypic men. (1968) (8)
Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome. (1971) (8)
Histopathology and ultrastructure of cartilage in the chondrodystrophies. (1974) (8)
Growth hormone in African pygmies. (1968) (7)
Isolated human growth hormone deficiency. IV. The response of sexual ateliotic dwards to exogenous growth hormone. (1968) (7)
Case report 655: Congenital glenoid dysplasia (congenital hypoplasia of the glenoid neck and fossa of the scapula, with accompanied deformity of humeral head, coracoid process, and acromion). (1991) (7)
Sex chromosome mosaicism (XO-XX-XXY-XY) in a phenotypic female. (1971) (7)
The Winchester syndrome: clinical, radiographic and pathologic studies. (1974) (7)
A distinct chondrodysplasia resembling Kniest dysplasia: clinical, roentgenographic, histologic, and ultrastructural findings. (1983) (7)
New frontiers in genetic medicine. (1986) (7)
Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism. (1977) (7)
Syndromes Associated with Growth Deficiency (1989) (7)
The mouse skeletal mutants: models for the human skeletal dysplasias. (1985) (7)
THYROXINE-BINDING PROTEINS IN MONGOLISM. (1965) (7)
Variable expressivity in the skeletal dysplasias. (1979) (6)
Clinical — molecular correlations in the skeletal dysplasias (2005) (6)
Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. (2002) (6)
Difficulties in the classification of the epiphyseal dysplasias. (1975) (6)
Case report 655 (2004) (6)
CHAPTER 16 – A Diagnostic Approach to Skeletal Dysplasias (2003) (6)
Arterial tortuosity in patients with Filamin A‐ associated vascular aneurysms (2014) (6)
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features (2003) (6)
Genetic disorders of the thyroid. (1975) (6)
[The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation]. (1979) (6)
Orthopaedic manifestations of Marinesco-Sjögren syndrome. (2002) (5)
The Weissenbacher-Zweymüller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthro-ophthalmopathies. (1987) (5)
Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration. (1998) (5)
No evidence for linkage between an insulin‐dependent diabetes mellitus‐susceptibility locus and immunoglobulin loci KM or GM (1984) (5)
Allelic mutations in the mucopolysaccharidoses. (1976) (5)
Review Article: Morphologic Studies in the Skeletal Dysplasias (1979) (5)
FURTHER HETEROGENEITY IN LETHAL NEONATAL SHORT-LIMBED DWARFISM (1977) (5)
CHROMOSOMAL ABNORMALITIES IN IDIOPATHIC OSTEOARTHROPATHY (1966) (5)
Normal sonographic appearance of a thanatophoric dwarf variant fetus at 13 weeks gestation. (1991) (5)
Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling (1998) (5)
Genetic Disorders of the Pituitary Gland (2013) (5)
Thanatophoric dwarfism. (1970) (5)
Postmortem findings in the Hurler-Scheie syndrome (mucopolysaccharidosis I-H/S). (1982) (5)
Genetic skeletal dysplasia in Thailand: the Siriraj experience. (1995) (5)
Type C brachydactyly with limited flexion of distal interphalangeal joints. (1974) (4)
Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. (1980) (4)
Histochemical characterization of the endochondral growth plate: a new approach to the study of the chondrodystrophies. (1978) (4)
Input Resistance , Electrical Excitability , and Size of Ventral Horn Cells in Cat Spinal Cord (2008) (4)
The Dyggve-Melchior-Clausen syndrome. (1971) (4)
"Baby rattle" pelvis dysplasia. (2001) (4)
Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome. (1995) (4)
Molecular characterization of a type II collagen defect in spondyloepiphyseal dysplasia. (1989) (3)
Skeletal abnormalities/short bones (2000) (3)
Gracile bone dysplasia. (1998) (3)
Echocardiographic findings in patients with spontaneous CSF leak (2014) (3)
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000) (2000) (3)
Short stature syndromes (2007) (3)
Humeroradial ankylosis associated with other congenital defects (the "boomerang arm" sign). (1975) (3)
Prenatal cortical hyperostosis (Caffey disease) (2002) (3)
Pathogenetic mechanisms of limb malformation in the skeletal dysplasias. (1977) (2)
Genetic forms of pituitary dwarfism. (1971) (2)
Case report 744. Deferoxamine-induced skeletal dysplasia. (1992) (2)
Familial hypophosphatemic rickets with resolution in childhood. (1975) (2)
Single Exon Deletion in One COL2A1 Allele in Spondyloepiphyseal Dysplasia a (1990) (2)
Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues (2013) (2)
Diastrophic dysplasia: evidence against a defect of type II collagen. (1989) (2)
Genetic Defects of Growth Hormone (1971) (2)
Abnormal Body Size and Proportion (2013) (2)
2006 ASHG Leadership Award. A half century of medical genetics--where do we go from here? (2007) (2)
Comparisons and correlations of skeletal defects in mouse and human. (1988) (2)
Chondro-osseous morphology and biochemistry in the skeletal dysplasias. (1981) (2)
Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia. (1975) (2)
Open quiz solution: Case report 744 (2004) (2)
Micromelic bone dysplasia with cloverleaf skull (2004) (2)
Pathological fractures in spondyloenchondrodysplasia: case report (2000) (2)
The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties. (1997) (2)
Progeroid syndrome. (1975) (2)
Craniodiaphyseal dysplasia. (2020) (1)
Spondyloepimetaphyseal dysplasia with multiple joint dislocations (2000) (1)
Occipital projections in the skeletal dysplasias (2004) (1)
A new variant of lethal neonatal short-limbed platyspondylic dwarfism. (1993) (1)
Cerebral gigantism - apparent dominant inheritance. (1976) (1)
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. (2002) (1)
Open quiz: Case report 744 (1992) (1)
Neonatal genetic casebook. The de Lange syndrome. (1989) (1)
Identification of a mutational hostspot in the type II collagen gene (COL2A1): A common point mutation in two unrelated individuals with kniest dysplasia (1994) (1)
Transient monoparesis after blade plate removal in a Hutchinson–Gilford progeria syndrome patient: a case report (2009) (1)
LACTATION IN THE ABSENCE OF HUMAN GROWTH HORMONE (1969) (1)
Maimon M. Cohen: January 24, 1935, to January 25, 2007 (2007) (1)
Calcospherite (calcification nodule) size in the short rib polydactyly syndromes. (1990) (1)
Familial frontal dysplasia. (1975) (1)
Hip arthrography in the epiphyseal dysplasias. (1974) (1)
Prenatal abnormal bone growth: a perspective. (1985) (1)
Unique considerations for genetic counseling in community-based carrier screening programs. (1977) (1)
Chapter 90. Chondrodysplasias (2009) (1)
Achondroplasia with ankylosing spondylitis. (1988) (1)
The Scapuloiliac Dysostosis (Kosenow Syndrome) Spectrum – Two Additional Cases (2000) (1)
Victor A. McKusick 1921–2008 (2008) (1)
New perspectives in the human chondrodysplasias. (1988) (1)
Mechanisms of gene action in disorders of the endocrine glands. (1971) (1)
Chapter 158 – Chondrodysplasias (2013) (1)
Dr. Victor A. McKusick and the Genetics of Dwarfism (2012) (1)
Ultrastructural studies of cartilage in genetic disorders of skeletal growth (1978) (1)
Unusual congenital anomalies. (1975) (0)
The medical genetics clinic and community health. (1970) (0)
Familial metaphyseal dysplasia. (1970) (0)
From the IOM's clinical research roundtable (2001) (0)
International Nomenclature of Constitutional Diseases of Bone: revision--May, 1977. (1978) (0)
LARSEN SYNDROME CLINICAL AND RADIOGRAPHIC DELINEATION.: 123 (2004) (0)
Tay-Sachs disease, screening and prevention : based on the First International Conference on Tay-Sachs Disease, Screening and Prevention, Palm Springs, California (1977) (0)
ACMG College news (2012) (0)
Dominant mutations in the type II collagen gene (COL2A1) produce spondyloepimetaphyseal dysplasia (SEMD), sturdwick type (1994) (0)
The Turner phenotype associated with unbalanced X/autosome translocation. (1975) (0)
Unusual connective tissue disorder. (1975) (0)
Sexual ateleiotic dwarfism associated with normal plasma growth hormone levels. (1971) (0)
Reviewer Acknowledgment (2013) (0)
Heterogeneity in the campomelic syndromes: long and short bone varieties. (1976) (0)
Unusual metaphyseal chondrodysplasia with wrist deformities. (1975) (0)
Abstracts (1969) (0)
Maimon M. Cohen, PhD (2007) (0)
New knowledge about HGH. (1971) (0)
Achondroplastic dwarfism with generalized periosteal elevation in infancy. (1975) (0)
Letter: Serum somatomedin-C in achondroplasia. (1976) (0)
LSD Exposure in Utero (1970) (0)
Diagnosis of skeletal dysplasias in second trimester fetuses. (1975) (0)
Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues (2013) (0)
Computerized Evaluation of Abnormal Hand Bone Patterns in Skeletal Dysplasias (2010) (0)
David William Hollister, M.D. (1941–91): In memoriam (1991) (0)
Unusual skeletal anomalies. (1975) (0)
CARTILAGE-HAIR HYPOPLASIA - A COMMON FORM OF DWARFISM IN FINLAND (1974) (0)
Genetic Syndromes Associated with Abnormal Glucose Tolerance in Childhood and Adolescence1 (1977) (0)
The delivery of genetic services. (1977) (0)
An unusual short stature syndrome. (1975) (0)
Letter to the editorEditorial correspondenceReply (1974) (0)
ACMG College news (2012) (0)
Letter: Phenotypic variation in alpha-L-iduronidase deficiency. (1975) (0)
Data on Human Biochemical Genetics (1975) (0)
PSEUDODIASTROPHIC DYSPLASIA: A DISTINCT NEONATAL SKELETAL DYSPLASIA (1984) (0)
Angiokeratoma "Circumscriptum". (1972) (0)
Stature Physiology and Pathology (2005) (0)
I. Clinical Features (2016) (0)
Chapter 24 – Skeletal Dysplasias and Connective Tissue Disorders (2012) (0)
Medical genetics. (1995) (0)
Metachondromatosis. (2020) (0)
Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. (1972) (0)
Achondroplasia and zinc deficiency. (1980) (0)
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity (vol 89, pg 769, 2011) (2012) (0)
A Web-Enabled Research Database with Image Recognition (1999) (0)
920 GAS LIQUID CHROMATOGRAPHY OF KERATAN SULFATE IN THE KNIEST SYNDROME (1978) (0)
Letter to the Editor: Histochemical Studies in Diastrophic Dwarfism (1980) (0)
Manpower needs in human genetics. (1975) (0)
116 A Lethal Skeletal Dysplasia Resembling Desbuquois Dysplasia. (2006) (0)
Reviewers of Manuscripts and Books (1970) (0)

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