Robin M. Winter
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(Suggest an Edit or Addition)Robin M. Winter'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
- 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)
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What Schools Are Affiliated With Robin M. Winter?
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