Published in N Engl J Med on August 02, 1984
Hunter syndrome: prenatal diagnosis in maternal serum. Am J Hum Genet (1986) 0.76
Fetal hexosaminidase A in mother's serum: pitfalls for carrier detection and prospects for prenatal diagnoses of GM2 gangliosidoses. Am J Hum Genet (1987) 0.75
Identification of the gene causing mucolipidosis type IV. Nat Genet (2000) 2.87
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 defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A (1972) 2.32
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
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci U S A (1998) 2.18
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
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A (1973) 1.86
Can we rely on the family history? Am J Med Genet (1998) 1.61
A new class of semisynthetic penicillins and cephalosporins derived from D-2-(1,4-cyclohexadienyl)glycine. J Med Chem (1971) 1.59
Mucolipidosis type IV: clinical spectrum and natural history. Pediatrics (1987) 1.59
Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Am J Med Genet (1993) 1.50
I-cell disease: deficiency of extracellular hydrolase phosphorylation. Biochem Biophys Res Commun (1979) 1.46
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. J Inherit Metab Dis (1997) 1.41
The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A (1996) 1.41
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
Increased maternal serum alpha fetoprotein in congenital hypothyroidism. Lancet (1991) 1.38
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet (1999) 1.32
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum Mutat (2001) 1.23
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
The role of elastoviscosity in the efficacy of viscosupplementation for osteoarthritis of the knee: a comparison of hylan G-F 20 and a lower-molecular-weight hyaluronan. Clin Ther (1999) 1.17
An assay for iduronate sulfatase (Hunter corrective factor). Carbohydr Res (1974) 1.16
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet (2004) 1.13
Arylsulfatase A in pseudodeficiency. Hum Genet (1984) 1.12
The Hunter corrective factor. Purification and preliminary characterization. J Biol Chem (1972) 1.11
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
Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics (2002) 1.09
Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet (1996) 1.08
Molecular basis of mendelian disorders among Jews. Mol Genet Metab (2000) 1.08
Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"? Hum Genet (1980) 1.07
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
Amyloid plaques arise from zinc-enriched cortical layers in APP/PS1 transgenic mice and are paradoxically enlarged with dietary zinc deficiency. Neuroscience (2007) 1.04
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
Selection in favor of lysosomal storage disorders? Am J Hum Genet (1988) 1.03
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Eur J Hum Genet (1998) 1.01
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. Am J Hum Genet (1977) 1.00
Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet (1985) 0.99
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. Biochem Biophys Res Commun (1975) 0.98
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online. Hum Mutat (1998) 0.98
Latent viruses and Bell's palsy in children. Eur Neurol (1978) 0.97
Heterogeneity of human hepatic H-acetyl-beta-D-hexosaminidose. A activity toward natural glycosphingolipid substrates. J Biol Chem (1975) 0.97
Mucolipidosis type IV: ganglioside sialidase deficiency. Biochem Biophys Res Commun (1979) 0.96
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun (1983) 0.96
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
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. J Inherit Metab Dis (1988) 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
Pseudodeficiency of alpha-galactosidase A. Clin Genet (1982) 0.91
Familial café au lait spots: a variant of neurofibromatosis type 1. J Med Genet (1995) 0.91
Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties. Biochem J (1989) 0.90
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet (1996) 0.90
A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation. Pediatr Res (1978) 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
The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers. Hear Res (2002) 0.89
Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet (1992) 0.89
Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations. Hear Res (2003) 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
Prenatal diagnosis of mucolipidosis IV by electron microscopy. J Pediatr (1977) 0.88
Phosphatidylcholine storage in mucolipidosis IV. Clin Chim Acta (1989) 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
Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population. Eur J Hum Genet (1999) 0.87
Crohn's disease in Ashkenazi Jews. Gastroenterology (1990) 0.87
Isochromosome 18p in a mother and her child. Am J Med Genet (1993) 0.86
Familial situs inversus and congenital heart defects. Am J Med Genet (1987) 0.86
Genetic heterogeneity in Gaucher disease. J Med Genet (1986) 0.85
Cellular localization of neuraminidases in cultured human fibroblasts. Biochem J (1981) 0.85
Krabbe disease in Israel. Isr J Med Sci (1991) 0.84
Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol (1992) 0.84
Intracellular localization of exogenous beta-glucuronidase in cultured skin fibroblasts. Eur J Biochem (1979) 0.84
Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. Clin Chim Acta (1986) 0.84
Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females. Am J Med Genet (1995) 0.83
Letter to the editor: about the inheritance of the aryl sulfatase A. Pediatr Res (1980) 0.83
Tay-Sachs disease among Moroccan Jews. Isr J Med Sci (1983) 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