Robin M. Winter

Q: What Schools Are Affiliated With Robin M. Winter

Robin M. Winter is affiliated with the following schools: University of Chicago, University of Florence

Robin M. Winter's AcademicInfluence.com Rankings

Robin M. Winter

Philosophy

#9208

World Rank

#12732

Historical Rank

Logic

#6198

World Rank

#7688

Historical Rank

philosophy Degrees

Robin M. Winter

Biology

#12612

World Rank

#16099

Historical Rank

Genetics

#1388

World Rank

#1490

Historical Rank

biology Degrees

Download Badge

Philosophy
Biology

Why Is Robin M. Winter Influential?

(Suggest an Edit or Addition)

(See a Problem?)

Robin M. Winter'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

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (1997) (1091)
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome (1995) (878)
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome (1994) (718)
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome (1994) (591)
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation (1995) (505)
G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex (2004) (486)
Subtle chromosomal rearrangements in children with unexplained mental retardation (1999) (473)
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes (1995) (428)
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome (1991) (345)
Identification of the gene for oral-facial-digital type I syndrome. (2001) (313)
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis (1998) (311)
Okihiro syndrome is caused by SALL4 mutations. (2002) (307)
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation (1997) (282)
3D analysis of facial morphology (2004) (250)
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein (2003) (238)
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (1998) (224)
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. (2004) (218)
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes (2001) (213)
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. (1997) (205)
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (2003) (191)
The London Dysmorphology Database. (1987) (180)
Identification of mutations in CUL7 in 3-M syndrome (2005) (169)
Clinical phenotype of desmosterolosis. (1998) (162)
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM (1994) (153)
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. (1985) (142)
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs (2000) (136)
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. (2000) (135)
What's in a face? (1996) (127)
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. (1995) (127)
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 (2003) (120)
Disorganisation: a model for 'early amnion rupture'? (1989) (118)
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. (2000) (117)
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. (1989) (114)
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. (1995) (114)
A CLINICALLY USEFUL DNA PROBE CLOSELY LINKED TO HAEMOPHILIA A (1984) (114)
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (2000) (112)
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome (2001) (111)
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. (2001) (110)
A locus for bilateral perisylvian polymicrogyria maps to Xq28. (2002) (109)
X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum (2003) (99)
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. (1992) (97)
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. (1998) (95)
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. (1997) (95)
A computerised data base for the diagnosis of rare dysmorphic syndromes. (1984) (95)
Fetal valproate syndrome: is there a recognisable phenotype? (1987) (95)
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. (1997) (92)
Mutation of the MITF gene in albinism‐deafness syndrome (Tietz syndrome) (1998) (90)
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. (1995) (87)
A possible human homologue for the mouse mutant disorganisation. (1989) (86)
The femoral hypoplasia-unusual facies syndrome. (1984) (85)
Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) (2003) (83)
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. (1992) (82)
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? (1990) (79)
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32 (1999) (77)
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. (1996) (77)
Spectrum of Craniosynostosis Phenotypes Associated with Novel Mutations at the Fibroblast Growth Factor Receptor 2 Locus (1996) (76)
Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate (2002) (71)
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. (1997) (71)
Fragile X mental retardation. (1989) (68)
Nonsyndromic cleft lip and palate: complex genetics and environmental effects. (2001) (67)
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. (1988) (65)
No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. (1992) (63)
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. (1991) (62)
Pulmonary agenesis as part of the VACTERL sequence. (1988) (61)
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). (1998) (60)
Alagille syndrome: family studies. (1995) (58)
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. (1994) (56)
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). (1988) (55)
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM (2001) (55)
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). (1988) (54)
Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. (1994) (54)
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. (1993) (54)
Clinical and genetic heterogeneity in Meckel syndrome (1997) (53)
Further segregation analysis of the fragile X syndrome with special reference to transmitting males (2004) (50)
Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetes. (1984) (50)
Malformation syndromes: a review of mouse/human homology. (1988) (49)
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. (1993) (48)
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. (1986) (47)
Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. (1993) (47)
Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11 (1985) (47)
Multiple Congenital Anomalies (1991) (46)
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation (2003) (45)
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. (1986) (44)
Greig cephalopolysyndactyly: report of 13 affected individuals in three families (1983) (43)
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (1997) (42)
Genetic Variants and Strains of the Laboratory Mouse (1990) (40)
The 3-M syndrome. (1984) (40)
Intrafamilial correlation in Friedreich's ataxia (1981) (40)
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. (1983) (39)
Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases (1980) (39)
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. (1992) (39)
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (1990) (38)
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. (1985) (37)
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome (2001) (37)
The femoral hypoplasia-unusual facies syndrome. (1984) (37)
Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? (2003) (36)
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? (1990) (36)
Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia. (1991) (36)
Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy? (1982) (35)
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. (1984) (35)
Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. (1985) (35)
Postaxial acrofacial dysostosis (Miller) syndrome. (1987) (34)
Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures (1981) (33)
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. (1994) (33)
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families (1999) (33)
Fraser syndrome and mouse ‘bleb’ mutants (1990) (33)
The clinical features of the Cohen syndrome: further case reports. (1985) (33)
Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome (2004) (32)
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. (2003) (32)
Male pseudohermaphroditism in sibs with the α-thalassemia/mental retardation (ATR-X) syndrome (1995) (32)
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. (1994) (32)
Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies. (1981) (32)
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. (1989) (31)
Multiple Congenital Anomalies: A Diagnostic Compendium (1991) (31)
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. (1988) (30)
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. (1995) (30)
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. (1991) (29)
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. (1987) (28)
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13. (1985) (28)
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (2002) (27)
Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. (2009) (27)
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13). (2001) (27)
Analysing human developmental abnormalities (1996) (26)
The Malformed Fetus and Stillbirth: A Diagnostic Approach (1988) (26)
Neu-Laxova syndrome: two further case reports and comments on proposed subclassification. (1983) (25)
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case (1980) (24)
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. (2001) (24)
Winchester's syndrome. (1989) (23)
PTEN mutations and Proteus syndrome (2001) (23)
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. (1996) (22)
A case of Fryns syndrome. (1986) (22)
Another family with the 'Habsburg jaw'. (1988) (21)
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. (2001) (21)
Genetic prediction in X-linked agammaglobulinaemia. (1988) (21)
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia (2000) (21)
MASA syndrome: further clinical delineation and chromosomal localisation (1989) (21)
X-CHROMOSOME-SPECIFIC PROBE DX13 FOR CARRIER DETECTION AND FIRST TRIMESTER PRENATAL DIAGNOSIS IN HAEMOPHILIA A (1984) (21)
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (2004) (20)
Acromelic frontonasal dysostosis. (1999) (19)
Color Atlas of Congenital Malformation Syndromes (1996) (19)
Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. (1987) (19)
Cenani–Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN (2001) (19)
Hemihypertrophy, hemimegalencephaly, and polydactyly. (1996) (19)
The acrocallosal syndrome and Greig syndrome are not allelic disorders. (1992) (19)
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. (1991) (19)
The Online London Dysmorphology Database (1999) (18)
Rapadilino syndrome--a non-Finnish case. (1998) (18)
Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome) (1986) (18)
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? (1989) (18)
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. (1996) (18)
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome? (2000) (18)
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (Am J Med Genet 125A: 167–172) (2005) (18)
A maximum likelihood estimate of the sex ratio of mutation rates in Haemophilia A (2004) (18)
Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. (1996) (17)
Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia. (1988) (17)
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome. (1995) (17)
Craniodiaphyseal dysplasia. (1990) (17)
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome? (2002) (17)
Kivlin syndrome and Peters'‐Plus syndrome: are they the same disorder? (1993) (16)
Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus‐Merzbacher disease (2003) (16)
A lethal short rib syndrome without polydactyly. (1988) (16)
Editorial comment – Cerebro-fronto-facial syndrome: three types? (2001) (15)
The Aase‐Smith syndrome (1985) (15)
Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features. (1989) (15)
An unusual presentation of Smith-Magenis syndrome with iris dysgenesis. (1996) (14)
The KBG syndrome. (2000) (14)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance (2002) (14)
Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males (1986) (14)
A recognisable short stature syndrome with premature aging and pigmented naevi. (1988) (14)
Lenz microphthalmia — a case report (1982) (13)
Diagnosis in dysmorphology: clues from the skin (2004) (13)
Nonsyndromic cleft lip with or without cleft palate: erratum. (1996) (13)
Congenital malformation syndromes (1995) (13)
Malformation syndromes--a diagnostic approach. (1984) (13)
Mesomelic limb shortness: a previously unreported autosomal recessive type. (1993) (13)
Recent molecular advances in dysmorphology. (1995) (12)
Megalocornea, developmental retardation and dysmorphic features: two further patients. (1994) (12)
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. (1994) (12)
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome (2003) (12)
The Malformed fetus and stillbirth: whose patient? (1983) (11)
Kohlschutter syndrome in siblings (2005) (11)
Fragile X mental retardation: current controversies (1986) (11)
Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders. (1980) (11)
A new category of lethal short-limbed dwarfism. (1986) (11)
Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. (1989) (11)
A case with blepharophimosis resembling Ohdo syndrome. (1994) (10)
A male infant with the Catel-Manzke syndrome and dislocatable knees. (1986) (10)
The estimation of phenotype distributions from pedigree data. (1980) (10)
A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia. (1999) (9)
Cerebro-fronto-facial syndrome: three types? (2001) (9)
A child with sclerocornea, short limbs, short stature, and distinct facial appearance. (1988) (9)
A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. (1999) (9)
A combinatorial method for grouping cases with multiple malformations. (1988) (9)
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report (2003) (9)
Familial syndromic duodenal atresia: Feingold syndrome. (2004) (8)
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability. (1994) (8)
Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant? (1982) (8)
Eronen syndrome identical with DOOR syndrome? (1993) (8)
The dysmorphic human-mouse homology database (DHMHD): an interactive World-Wide Web resource for gene mapping. (1996) (8)
A syndrome of brachyphalangy, polydactyly and absent tibiae (1997) (7)
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. (1997) (7)
Total situs inversus associated with the oculoauriculo‐vertebral spectrum (1994) (7)
Otopalatodigital syndrome type II. (1993) (7)
Sponastrime dysplasia: presentation in infancy (2001) (7)
Genetic counselling for cystic fibrosis based upon mutation/haplotype analysis (1990) (7)
The estimation of recurrence risks in monogenic disorders using flanking marker loci. (1985) (7)
Animal models for dysmorphology. (1998) (7)
No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome. (2002) (6)
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance. (1987) (6)
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. (1987) (6)
Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies. (1993) (6)
Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene (1987) (6)
Genetic Aspects of Developmental Pathology (1988) (6)
A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound. (1987) (6)
A diagnostic survey of infants referred for chromosome analysis in the neonatal period. (1980) (6)
Three craniosynostotic patients with tracheal sleeve. (2003) (5)
A Colour Atlas of Clinical Genetics (1983) (5)
Diaphragmatic and multiple midline defects. (1996) (4)
Covesdem syndrome. (1980) (4)
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. (2002) (4)
A database of genetically determined neurological conditions for clinicians. (1989) (4)
Update on the London Dysmorphology Database. (1991) (3)
Clinical syndromes with combined cranial and limb defects (1994) (3)
Themapping ofageneforcraniosynostosis : evidence forlinkage oftheSaethre-Chotzen syndrome todistal chromosome 7p (1992) (3)
A case-based learning approach to grouping cases with multiple malformations. (1995) (3)
A mouse malformation mutant supplement to the London Dysmorphology Database. (1988) (3)
"Disorganization" gene in mutations. (1990) (3)
PTEN mutations and Proteus syndrome [2] (multiple letters) (2001) (3)
Interpretation of the heterogeneity in the linkage relationships of DNA markers around the fragile X locus (1987) (2)
Photographic documentation of syndrome diagnosis. (1997) (2)
Haploinsufficiency for HOXD8-HOXD13 and EVX2 causes atypical synpolydactyly (1999) (2)
Pelizaeus-Merzbacher disease: Detection of mutations Thr[sup 181][yields]Pro and Leu[sup 223][yields]Pro in the proteolipid protein gene, and prenatal diagnosis (1992) (2)
Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face. (1993) (2)
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome? (2000) (2)
Dubowitz syndrome. (1986) (2)
A catalogue of multiple congenital anomaly syndromes (1991) (2)
Mapping of a locus for autosomal dominant Hemifacial Microsomia (2000) (2)
Nonsyndromic cleft lip and palate: Complex genetics and environmental effects (2001) (2)
Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney: a new recessive multiple congenital anomaly (MCA) syndrome? (1996) (2)
Sialidosis Type II (Acid Neuraminidase Deficiency): Clinical and Biochemical Features of a Further Case (1980) (2)
PFEIFFER SYNDROME. AUTHORS' REPLY (1994) (2)
Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) (1977) (2)
Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case. (2002) (2)
Candidate gene analysis of TGFA, EDN-1, and MTHFR, and the influence of maternal smoking in nonsyndromic cleft lip and palate. (1999) (1)
Training course for senior registrars in clinical genetics, Brindle Lodge, NWRHA, 1 to 5 September 1986 (1987) (1)
Multiple congenital anomalies : a diagnostic compendium : first supplement (1993) (1)
Evidence for Locus Heterogeneity in Acrocephalosyndactyly : A Refined Localization for the Saethre-Chotzen Syndrome Locus on Distal Chromosome 7 p-and Exclusion of Jackson-Weiss Syndrome (2007) (1)
Pfeiffer syndrome. (1994) (1)
THE LOCALIZATION OF THE GENETIC-LOCUS OF THE SAETHRE-CHOTZEN SYNDROME (1995) (1)
Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development. (1989) (1)
Malformation in Children from One to Seven Years (1987) (1)
Eight cases of 7p deletion: clinical features, cytogenetic findings, and molecular studies (1992) (1)
Skeletal malformations and polycystic kidney disease. (1993) (1)
A new type of osteogenesis imperfecta. (1982) (1)
Editorial (1969) (1)
Localisation of the gene for Saethre-Chotzen syndrome by FISH using four cases with apparently balanced translocations at 7p21.2 (1994) (1)
New concepts in the study of congenital malformations (1989) (0)
Candidate syndromic genes in nonsyndromic cleft lip and palate (2003) (0)
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis - novel SHOX mutations and clinical phenotypic spectrum (2001) (0)
Partial monosomy3qinaboywithshort stature, developmental delay, andmilddysmorphic features (1989) (0)
CVID= Common Variable Immuno Deficiency-Syndrom: Eine Fallvorstellung (1995) (0)
Mapping of loci for a distinct syndrome of autosomal dominant cleft lip and palate in two families (2001) (0)
PTEN mutations in Proteus and Proteus-like syndromes (2000) (0)
Minor Malformations in the Neonate (1984) (0)
Genetic heterogeneity in hemifacial microsomia: evidence for three loci at 14q32, 2q35 and 11q12-q13. (2001) (0)
Extended mutational analysis and embryonic expression of the hereditary sacral agenesis gene HLXB9 (2000) (0)
A novel human limb malformation caused by deletions in HOXD13. (1998) (0)
palsy inmotherandson: review of26reportsoffamilial transmission within the'Mobius spectrumofdefects' (1990) (0)
A combinatorial methodforgrouping caseswith multiple malformations (1988) (0)
Rare Diseases with Hepatic Abnormalities (2008) (0)
Syndrome of the month Saethre-Chotzen syndrome (0)
Molecular disease confirmation in a case of Bardet-Biedl syndrome, prenatal diagnosis in a sibling and segregation of genitourinary malformations in unaffected relatives with heterozygous mutation. (2003) (0)
A novel family of extracellular matrix proteins implicated in Fraser syndrome and the mouse blebbing mutants. (2003) (0)
Microcephaly, muscular build, rhizomelia and cataracts: A possible recessive syndrome (1997) (0)
MOLECULAR DIAGNOSIS OF MYOTONIC DYSTROPHY. AUTHOR'S REPLY (1993) (0)
Apreviously undescribed syndrome ofthoracic dysplasia andcommunicating hydrocephalus intwo sibs, onediagnosed prenatally byultrasound (1987) (0)
Pelizaeus-Merzbacher Disease : Detection of Mutations Thr ' 81-' Pro and Leu 223-Pro in the Proteolipid Protein Gene , and Prenatal Diagnosis (2006) (0)
Moore-Federman syndrome andacromicric dysplasia: aretheythesameentity? (1989) (0)
Clinical useofDNA markers linked tothegenefor Duchenne muscular dystrophy (1984) (0)
Extreme intrauterine growth retardation, hydrocephalus and aged facial appearance: a previously unrecognized autosomal recessive disorder? (1996) (0)
RECQL4 mutation saving the helicase domain results in the RAPADILINO syndrome (2003) (0)
Acomputerised databaseforthediagnosis ofraredysmorphic syndromes (1984) (0)
Molecular diagnosis of myotonic dystrophy. (1993) (0)
phenotype . daughter : variability of the clinical Velocardiofacial syndrome in a mother and (0)
Maternal age in Duchenne muscular dystrophy. (1983) (0)
Craniofacial structures in connective tissue disorders: Carlos S. Salinas, John M. Opitz and Natalie W. Paul Alan R. Liss, New York (1990) (0)
A unique form of Septo-Optic Dysplasia and its rehabilitative management: a case report (2011) (0)
The Atlas of Mouse Development (1993) (0)
capillary dysplasia ) . of the pulmonary vessels ( congenital alveolar of the newborn resulting from misalignment Familial persistent pulmonary hypertension (0)
Syndrome of themonth (2017) (0)
Another case of the autosomal recessive Weaver-like syndrome. (1997) (0)
Crouzon syndrome isnotlinked to craniosynostosis loci at7pand5qter (1994) (0)
The oral-facial-digital syndrome type 1 (OFD1), a cause of glomerulocystic kidney disease (PKD), maps to Xp22.2-Xp22.3 (1999) (0)
Birth Defects: Overview (2001) (0)
A recurrent mutation, ala39 1 glu, in the transmembrane region of FGFR3 causes syndrome and acanthosis nigricans Crouzon (0)
Hemifacial microsomia: Progress in understanding the genetic basis of a multifactorial condition (2001) (0)
Identification of mutations in a trans-acting factor with different effects on alpha and beta globin expression. (2000) (0)
Holoprosencephaly — An overview and atlas of cases: J.R. Siebert, M.M. Cohen, Jr., K.K. Sulik, C.-M. Shaw and R.L. Lemire Wiley-Liss, New York (1991) (0)
Syndromes ofmicrocephaly, microphthalmia, cataracts, andjoint contractures (1981) (0)
Multiple alleles in cystic fibrosis? (1984) (0)
Family based association analysis of folate genes in OFC reveals possible role of MTHFR (2000) (0)
Cenani-Lenz syndrome with renal hypoplasia is not caused by mutations in FORMIN or GREMLIN (2000) (0)
Editorial (1988) (0)
Sutural hyperostoses, epibulbar dermoids and developmental delay: a further case of regional Proteus syndrome or a distinct clinical entity? (2000) (0)
Mutational analysis indicates that the hereditary sacral agenesis gene, HLXB9, i s the sole locus for Currarino Triad and different mutation classes produce equivalent phenotypes. (2000) (0)
Smith Lemli Opitz syndrome: a variable phenotype caused by 7 dehydro cholesterol reductase deficiency. (1997) (0)
A diagnostic surveyofinfants referred forchromosome analysis intheneonatal period (1980) (0)
Apparent microcephaly caused by a bicornuate uterus. (1983) (0)

This paper list is powered by the following services:

What Schools Are Affiliated With Robin M. Winter?

Robin M. Winter is affiliated with the following schools:

Robin M. Winter's Academic­Influence.com Rankings

Why Is Robin M. Winter Influential?

Robin M. Winter's Published Works

Published Works

What Schools Are Affiliated With Robin M. Winter?

Robin M. Winter's AcademicInfluence.com Rankings