Published in J Med Genet on May 27, 2010
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome (2011) 1.16
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet (2010) 1.13
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel. Hum Genet (2010) 0.96
Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability. Curr Genomics (2011) 0.94
Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degeneration. J Proteome Res (2013) 0.87
Regulation of presynaptic strength by controlling Ca2+ channel mobility: effects of cholesterol depletion on release at the cone ribbon synapse. J Neurophysiol (2012) 0.83
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr (2015) 0.79
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. Invest Ophthalmol Vis Sci (2016) 0.78
Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. Mol Vis (2013) 0.78
An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village. Mol Vis (2013) 0.76
Investigation of SLA4A3 as a candidate gene for human retinal disease. J Negat Results Biomed (2016) 0.75
Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization. J Biol Chem (2016) 0.75
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech (2017) 0.75
Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability. Biochemistry (2016) 0.75
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell (2001) 2.90
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
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet (2003) 1.34
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab (2000) 1.29
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
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17
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
ECA39, a conserved gene regulated by c-Myc in mice, is involved in G1/S cell cycle regulation in yeast. Proc Natl Acad Sci U S A (1996) 1.06
Molecular genetics of metachromatic leukodystrophy. Hum Mutat (1994) 1.05
The fate of 12 recessive mutations in a single village. Ann Hum Genet (2007) 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
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
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
Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet (1996) 0.92
The genetics of the aryl sulfatase A locus. Am J Hum Genet (1981) 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
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet (1996) 0.90
The femur, fibula, ulna (FFU) complex in siblings. Clin Genet (1983) 0.90
Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations. Hear Res (2003) 0.89
Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet (1992) 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
Deletion (4)(q33 --> qter): a case report and review of the literature. J Child Neurol (1997) 0.88
Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele. Hum Genet (1985) 0.87
Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool. Am J Med Genet (1994) 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
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
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
Genetic services in Israel. Eur J Hum Genet (1997) 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
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. Genet Med (2001) 0.82
Intrafamilial variability in lysosomal storage diseases. Am J Med Genet (1987) 0.82
Do identical HLA-DR3 genes convey susceptibility to celiac disease and insulin dependent diabetes mellitus? Tissue Antigens (1984) 0.82
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. Am J Med Genet (2000) 0.81
Syndrome of tetraamelia with pulmonary hypoplasia. Am J Med Genet (1993) 0.81
Upper limb malformations in chromosome 22q11 deletions. Am J Med Genet (1996) 0.80
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
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
Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? Am J Hum Genet (1993) 0.79
Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination. Prenat Diagn (2001) 0.78
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. Hum Mutat (1996) 0.78
Problems in the clinical interpretation of arylsulfatase A deficiency. Am J Med Genet (1981) 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
Early motor development in metachromatic leucodystrophy. Arch Dis Child (1981) 0.78
MURCS in a male. J Med Genet (1995) 0.77
Growth pattern in Krabbe's disease. Acta Paediatr Scand (1986) 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
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
X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. Am J Med Genet (1995) 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
Hunter syndrome: prenatal diagnosis in maternal serum. Am J Hum Genet (1986) 0.76
A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter. J Med Genet (1984) 0.75
Female infant affected with an X-linked disease. J Pediatr (1991) 0.75
Are individuals born as twins at a higher risk of developing Crohn's disease? Gut (1989) 0.75
Unilateral radial aplasia and trisomy 22 mosaicism. J Med Genet (1981) 0.75
Deafness and mutations in the connexin 26 gene. N Engl J Med (1999) 0.75
Newborn with multiple joint contractures due to maternal bicornuate uterus. Isr J Med Sci (1985) 0.75
Is there a relation between Klippel-Feil sequence and Kallmann syndrome? Am J Med Genet (1995) 0.75
Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls. Brain Dev (1990) 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
[Genetic counseling for families at high cancer risk]. Harefuah (1996) 0.75
Congenital cutis laxa. Clin Genet (1987) 0.75
Pseudodeficiencies in lysosomal storage disorders. Lancet (1985) 0.75
Israel-France binational symposium on 'hereditary diseases, molecular diagnosis and gene therapy'. Eur J Hum Genet (1995) 0.75
Fetal duodenal obstruction. A high risk indicator for Down's syndrome. Acta Obstet Gynecol Scand (1988) 0.75
Treatment of the hematological manifestations of dyskeratosis congenita. Ann Hematol (1993) 0.75
On the inheritance of "new" syndromes. Am J Med Genet (1998) 0.75
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. J Inherit Metab Dis (2007) 0.75