Published in Biomed Pharmacother on January 01, 1994
A rare case of mucopolysaccharidosis: Hunter syndrome. J Nat Sci Biol Med (2012) 0.90
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
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
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A (1973) 1.86
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72
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
Adrenergic and cholinergic receptors in the human prostate, prostatic capsule and bladder neck. Br J Urol (1975) 1.51
Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Am J Med Genet (1993) 1.50
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum Mutat (2001) 1.50
I-cell disease: deficiency of extracellular hydrolase phosphorylation. Biochem Biophys Res Commun (1979) 1.46
A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. Br J Cancer (2004) 1.41
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
The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet (1998) 1.33
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet (1999) 1.32
CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers. Br J Cancer (2001) 1.27
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
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Mol Genet Metab (2004) 1.21
The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Am J Hum Genet (1999) 1.19
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
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet (1992) 1.17
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
Experiences in paediatric haemodialysis. Proc Eur Dial Transplant Assoc (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
Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype. Blood (1996) 1.08
Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population. Health Econ (1994) 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
Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis. Hum Reprod (2007) 1.06
Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin. Am J Med Genet (1981) 1.06
Preimplantation genetic diagnosis for BRCA1/2--a novel clinical experience. Prenat Diagn (2009) 1.05
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
Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect. J Intellect Disabil Res (2007) 1.03
The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat (2000) 1.03
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
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms. Am J Med Genet (1994) 1.02
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
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
Prenatal ultrasonic diagnosis of radial-ray aplasia and renal anomalies (acro-renal syndrome). Prenat Diagn (1986) 0.97
Heterogeneity of human hepatic H-acetyl-beta-D-hexosaminidose. A activity toward natural glycosphingolipid substrates. J Biol Chem (1975) 0.97
A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online. Hum Mutat (1999) 0.97
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet (1994) 0.97
Mucolipidosis type IV: ganglioside sialidase deficiency. Biochem Biophys Res Commun (1979) 0.96
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet (2000) 0.96
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun (1983) 0.96
Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. Clin Oncol (R Coll Radiol) (2007) 0.96
A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer (2001) 0.95
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am J Hum Genet (1999) 0.94
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
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
Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet (1996) 0.92