Published in Am J Med Genet on February 01, 1992
Waardenburg syndrome. J Med Genet (1997) 2.66
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. BMJ Open (2013) 0.94
Homozygosity for Waardenburg syndrome. Am J Hum Genet (1995) 0.87
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet (1989) 2.43
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet (1997) 2.28
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet (1983) 2.15
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
Can we rely on the family history? Am J Med Genet (1998) 1.61
Mucolipidosis type IV: clinical spectrum and natural history. Pediatrics (1987) 1.59
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? J Med Genet (1987) 1.40
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. J Pediatr (1990) 1.40
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet (1997) 1.11
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. J Med Genet (1981) 1.11
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet (1995) 1.10
Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet (1996) 1.08
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet (1996) 1.07
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Am J Hum Genet (1993) 1.07
Molecular genetics of metachromatic leukodystrophy. Hum Mutat (1994) 1.05
Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism. Am J Med Genet (1993) 1.03
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Eur J Hum Genet (1998) 1.01
Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes. N Engl J Med (1984) 1.00
Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet (1985) 0.99
Latent viruses and Bell's palsy in children. Eur Neurol (1978) 0.97
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. J Med Genet (2010) 0.94
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am J Hum Genet (1999) 0.94
Heterozygote detection in Hunter syndrome. Am J Med Genet (1984) 0.93
On the inheritance of primary spontaneous pneumothorax. Am J Med Genet (1991) 0.92
Heterogeneity of the autosomal dominant split hand/split foot malformation. Am J Hum Genet (1995) 0.92
The genetics of the aryl sulfatase A locus. Am J Hum Genet (1981) 0.92
Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet (1996) 0.92
Familial café au lait spots: a variant of neurofibromatosis type 1. J Med Genet (1995) 0.91
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet (1996) 0.90
The femur, fibula, ulna (FFU) complex in siblings. Clin Genet (1983) 0.90
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet (1996) 0.90
Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations. Hear Res (2003) 0.89
The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers. Hear Res (2002) 0.89
Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes. Am J Hum Genet (1980) 0.89
Syndactyly, ectodermal dysplasia, and cleft lip and palate. J Med Genet (1988) 0.88
Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool. Am J Med Genet (1994) 0.87
Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele. Hum Genet (1985) 0.87
Crohn's disease in Ashkenazi Jews. Gastroenterology (1990) 0.87
Familial situs inversus and congenital heart defects. Am J Med Genet (1987) 0.86
Isochromosome 18p in a mother and her child. Am J Med Genet (1993) 0.86
Genetic heterogeneity in Gaucher disease. J Med Genet (1986) 0.85
Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol (1992) 0.84
Letter to the editor: about the inheritance of the aryl sulfatase A. Pediatr Res (1980) 0.83
Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females. Am J Med Genet (1995) 0.83
Deficiency of lysosomal hydrolases in apparently healthy individuals. Am J Med Genet (1983) 0.83
The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer. J Genet Couns (1998) 0.82
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. Am J Med Genet (1999) 0.82
Genetic services in Israel. Eur J Hum Genet (1997) 0.82
Do identical HLA-DR3 genes convey susceptibility to celiac disease and insulin dependent diabetes mellitus? Tissue Antigens (1984) 0.82
Intrafamilial variability in lysosomal storage diseases. Am J Med Genet (1987) 0.82
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. Genet Med (2001) 0.82
Syndrome of tetraamelia with pulmonary hypoplasia. Am J Med Genet (1993) 0.81
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. Am J Med Genet (2000) 0.81
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. Ann Hum Genet (2008) 0.79
Hunter syndrome among Jews in Israel. Biomed Pharmacother (1994) 0.79
Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? Am J Hum Genet (1993) 0.79
A muscle disorder as presenting symptom in a child with mucolipidosis IV. Neuropediatrics (1983) 0.79
Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide. Clin Chim Acta (1984) 0.79
Problems in the clinical interpretation of arylsulfatase A deficiency. Am J Med Genet (1981) 0.78
Early motor development in metachromatic leucodystrophy. Arch Dis Child (1981) 0.78
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. Hum Mutat (1996) 0.78
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Hum Genet (1995) 0.78
Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination. Prenat Diagn (2001) 0.78
MURCS in a male. J Med Genet (1995) 0.77
[Large scale screening for Gaucher's disease in Israel--a position paper by the National Gaucher Committee of the Ministry of Health]. Harefuah (1997) 0.77
Growth pattern in Krabbe's disease. Acta Paediatr Scand (1986) 0.77
Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2. Am J Med Genet (1996) 0.77
Hunter syndrome: prenatal diagnosis in maternal serum. Am J Hum Genet (1986) 0.76
Knowing the ethnic origin of the patient is important in making a diagnosis. Am J Med Genet (1998) 0.76
Mental retardation, spasticity, and transverse limb defects. Am J Med Genet (1987) 0.76
X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. Am J Med Genet (1995) 0.76
A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter. J Med Genet (1984) 0.75
Deafness and mutations in the connexin 26 gene. N Engl J Med (1999) 0.75
Unilateral radial aplasia and trisomy 22 mosaicism. J Med Genet (1981) 0.75
Are individuals born as twins at a higher risk of developing Crohn's disease? Gut (1989) 0.75
Newborn with multiple joint contractures due to maternal bicornuate uterus. Isr J Med Sci (1985) 0.75
Female infant affected with an X-linked disease. J Pediatr (1991) 0.75
[Genetic counseling for families at high cancer risk]. Harefuah (1996) 0.75
Treatment of the hematological manifestations of dyskeratosis congenita. Ann Hematol (1993) 0.75
A family with retinitis pigmentosa and ESRD with late presentation, hypertension and absence of polyuria or salt wasting. Clin Nephrol (1986) 0.75
[Carcinoma of the large bowel and Bloom's syndrome]. Harefuah (1981) 0.75
Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity. Am J Med Genet (1993) 0.75
Pseudodeficiencies in lysosomal storage disorders. Lancet (1985) 0.75
On the inheritance of "new" syndromes. Am J Med Genet (1998) 0.75
Fetal duodenal obstruction. A high risk indicator for Down's syndrome. Acta Obstet Gynecol Scand (1988) 0.75
Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls. Brain Dev (1990) 0.75
Israel-France binational symposium on 'hereditary diseases, molecular diagnosis and gene therapy'. Eur J Hum Genet (1995) 0.75
Congenital cutis laxa. Clin Genet (1987) 0.75
Retinal pigment epithelial degeneration and arylsulfatase A deficiency. Am J Ophthalmol (1981) 0.75
Is there a relation between Klippel-Feil sequence and Kallmann syndrome? Am J Med Genet (1995) 0.75