Published in Am J Hum Genet on July 01, 1980
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet (1993) 1.66
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis. J Med Genet (1991) 0.97
On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms. Am J Hum Genet (1986) 0.95
Ascertainment and age of onset in pedigree analysis. Hum Hered (1973) 3.17
Spontaneous mutation in man. Adv Hum Genet (1975) 2.96
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Systemic membrane defect in the proximal muscular dystrophies. N Engl J Med (1978) 1.52
Carrier detection in Duchenne muscular dystrophy. N Engl J Med (1976) 1.42
Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy. J Med Genet (1978) 1.39
Genetic epidemiology of Lesch-Nyhan disease. Am J Hum Genet (1977) 1.33
Equilibrium frequencies in X-linked recessive disease. Am J Hum Genet (1973) 1.31
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24
Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet (1978) 1.20
The sporadic case of haemophilia A. Lancet (1976) 1.16
Use of overlapping normal distributions in genetic counselling. J Med Genet (1978) 1.02
Spontaneous frequencies of point mutations in mice. Humangenetik (1972) 0.87
The laboratory diagnosis of the carrier state for classic hemophilia. Ann Intern Med (1977) 0.84
A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet (1984) 8.10
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet (1995) 4.25
Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet (1999) 4.20
Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11. Diabetologia (1985) 3.65
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet (2001) 3.28
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet (1994) 2.83
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet (1995) 2.49
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
Malformation syndromes--a diagnostic approach. Arch Dis Child (1984) 2.06
Postaxial acrofacial dysostosis (Miller) syndrome. J Med Genet (1987) 2.03
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet (1997) 1.88
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am J Med Genet (1985) 1.83
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A (1997) 1.78
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet (1993) 1.71
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet (1998) 1.65
Intrafamilial correlation in Friedreich's ataxia. Clin Genet (1981) 1.62
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. Clin Dysmorphol (1996) 1.55
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet (2000) 1.54
The femoral hypoplasia-unusual facies syndrome. J Med Genet (1984) 1.52
Lumpers, splitters, and FGFRs. Am J Med Genet (1996) 1.49
Dubowitz syndrome. J Med Genet (1986) 1.49
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet (1995) 1.45
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. J Med Genet (1993) 1.45
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J Med Genet (2001) 1.38
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet (2001) 1.37
The 3-M syndrome. J Med Genet (1984) 1.37
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet (1991) 1.36
A clinically useful DNA probe closely linked to haemophilia A. Lancet (1984) 1.33
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet (1983) 1.33
Perinatal mortality in different ethnic groups. Arch Dis Child (1989) 1.32
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet (1988) 1.31
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet (1992) 1.28
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet (1989) 1.28
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet (1999) 1.28
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. Am J Med Genet (1988) 1.27
First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13. Br Med J (Clin Res Ed) (1985) 1.26
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet (1986) 1.26
The London Dysmorphology Database. J Med Genet (1987) 1.26
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur J Med Genet (2005) 1.26
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr (1988) 1.23
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet (2000) 1.23
A case of Fryns syndrome. J Med Genet (1986) 1.20
Saethre-Chotzen syndrome. J Med Genet (1994) 1.20
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet (2001) 1.19
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet (1997) 1.18
Clinical phenotype of desmosterolosis. Am J Med Genet (1998) 1.17
A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A. Hum Genet (1983) 1.16
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. J Med Genet (1986) 1.16
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol (1998) 1.15
Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. Am J Med Genet (1993) 1.13
No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J Med Genet (1992) 1.12
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet (1996) 1.11
The Online London Dysmorphology Database. Genet Med (2001) 1.11
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet (1992) 1.11
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet (1997) 1.10
Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am J Med Genet (1985) 1.09
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). J Med Genet (1998) 1.07
Optic disc anomalies and frontonasal dysplasia. Br J Ophthalmol (1998) 1.07
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. Arch Dis Child (1984) 1.06
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. Clin Genet (2000) 1.05
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. Am J Med Genet (1983) 1.04
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet (1997) 1.03
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. Am J Med Genet (1988) 1.03
Disorganisation: a model for 'early amnion rupture'? J Med Genet (1989) 1.03
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? J Med Genet (1990) 1.03
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. J Med Genet (1990) 1.02
Alagille syndrome: family studies. J Med Genet (1995) 1.02
PTEN mutations and proteus syndrome. Lancet (2001) 1.01
Pulmonary agenesis as part of the VACTERL sequence. Arch Dis Child (1988) 1.01
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet (2000) 1.01
Craniodiaphyseal dysplasia. J Med Genet (1990) 1.01
Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). Hum Genet (1986) 1.00
Kohlschutter syndrome in siblings. Clin Dysmorphol (2005) 0.98
The clinical features of the Cohen syndrome: further case reports. J Med Genet (1985) 0.97
Lenz microphthalmia--a case report. Clin Genet (1982) 0.97
Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. Acta Ophthalmol Scand Suppl (1996) 0.96
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. J Med Genet (1991) 0.95
Nonsyndromic cleft lip and palate: complex genetics and environmental effects. Ann Hum Genet (2001) 0.95
The radiology of stillbirths and neonatal deaths. Br J Obstet Gynaecol (1984) 0.95
The estimation of phenotype distributions from pedigree data. Am J Med Genet (1980) 0.95
Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. J Med Genet (1985) 0.94
Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet (2002) 0.94
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. J Med Genet (2002) 0.93
Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy? Am J Med Genet (1982) 0.93
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. Clin Genet (2001) 0.93
Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies. J Med Genet (1981) 0.92
Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene. Hum Genet (1987) 0.91
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics (2003) 0.91
The KBG syndrome. Clin Dysmorphol (2000) 0.91
The malformed fetus and stillbirth: whose patient? Br J Obstet Gynaecol (1983) 0.91
A syndrome of brachyphalangy, polydactyly and absent tibiae. Clin Dysmorphol (1997) 0.90
A recognisable short stature syndrome with premature aging and pigmented naevi. J Med Genet (1988) 0.90
Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. Am J Med Genet (1994) 0.89
Acromelic frontonasal dysostosis. Am J Med Genet (1999) 0.89
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. Clin Dysmorphol (1996) 0.89
Rapadilino syndrome--a non-Finnish case. Clin Dysmorphol (1998) 0.89
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. Am J Hum Genet (1994) 0.89