Unilateral radial aplasia and trisomy 22 mosaicism.

Group E triple cell line mosaicism with Sprengel's deformity and other asymmetrical congenital abnormalities. Report of a case. Am J Clin Pathol (1968) 1.03

Complete trisomy 22. Clin Genet (1978) 0.92

[47,XX,18+-46,XX-45,XX,18- mosaicism in a child with Edward's syndrome]. Ann Genet (1971) 0.88

Disappearing mosaicism. Suggested mechanism is growth advantage of normal over abnormal cell population. R I Med J (1967) 0.87

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18. J Med Genet (1979) 0.84

[Karyotype 46,XY,22p+ in a male patient (author's transl)]. J Genet Hum (1978) 0.83

Trisomy 22 mosaicism. J Med Genet (1977) 0.83

Ag-staining of nucleolus organizer regions of chromosomes after A-,C-, G-, or R-banding procedures. Cytogenet Cell Genet (1977) 0.83

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

Common HLA antigens in couples with repeated abortions. Clin Immunol Immunopathol (1977) 1.70

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

Fracture of the clavicle in the newborn. An ultrasound diagnosis. J Ultrasound Med (1988) 1.42

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

New anomalies found in the 11q-syndrome. Clin Genet (1984) 1.22

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

Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood. Clin Genet (1976) 1.09

Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet (1996) 1.08

Beta glucuronidase and hyperbilirubinaemia in breast fed infants of diabetic mothers. Arch Dis Child (1992) 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

Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31). Ann Genet (1982) 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

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

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9. J Med Genet (1981) 0.98

Latent viruses and Bell's palsy in children. Eur Neurol (1978) 0.97

49,XYYYY. A case report. Clin Genet (1981) 0.95

Sialic acid level in maternal and neonatal lymphocytes and sera correlated to birth order and sex of the neonate. Biol Neonate (1992) 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

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

Chromosomal anomaly and malformation syndrome with abdominal polyorchidism. J Urol (1991) 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

Consanguinity and marriage systems in the Jewish community in Israel. Ann Hum Genet (1972) 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

Incontinentia pigmenti. Clin Genet (1975) 0.90

Hemoglobin hasharon (alpha-47 aspartic acid--histidine). Isr J Med Sci (1968) 0.89

Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet (1992) 0.89

Difference in the placental ferritin levels measured by a specific monoclonal antibody enzymoassay in preterm and term delivery. Clin Exp Immunol (1987) 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

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

Pure trisomy 17p in 60% cells. Hum Genet (1979) 0.88

Prostaglandin E2 and cyclic AMP in tumor and plasma of breast cancer patients. J Cancer Res Clin Oncol (1981) 0.88

Lymphocyte transformation in mixed wife-husband leukocyte cultures in abortions and in hydatidiform moles. Obstet Gynecol (1968) 0.87

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

The intestinal microvillus. Ultrastructural variability in coeliac disease and cow's milk intolerance. Acta Paediatr Scand (1976) 0.87

Trisomy-D in cyclops. A case report. Obstet Gynecol (1971) 0.87

Crohn's disease in Ashkenazi Jews. Gastroenterology (1990) 0.87

Human chromosome polymorphism and congenital malformations. Clin Genet (1976) 0.86

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

LH-RH and HCG studies in a Turner phenotype male (Noonan's syndrome). A case report. Helv Paediatr Acta (1977) 0.86

Trigonocephaly: a new familial syndrome. Am J Med Genet (1984) 0.85

Genetic heterogeneity in Gaucher disease. J Med Genet (1986) 0.85

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18. J Med Genet (1979) 0.84

Leukocyte alkaline phosphatase activity in pre-term, term and post-term infants. Isr J Med Sci (1972) 0.84

Cytotoxic effects of leukocytes and plasma on primary cultures of ovarian carcinoma. Obstet Gynecol (1974) 0.84

Production of interleukin-1 by mononuclear cells of newborns and their mothers. Clin Exp Immunol (1987) 0.84

Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol (1992) 0.84

Familial fragility on chromosome 16 (fra 16q22) enhanced by both interferon and Distamycin A. Hum Genet (1983) 0.84

Nocturnal enuresis: a familial condition. J R Soc Med (1984) 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

Letter to the editor: about the inheritance of the aryl sulfatase A. Pediatr Res (1980) 0.83

Cord serum inhibits allogeneic mixed lymphocyte reaction and stimulates lymphokine production. J Reprod Immunol (1986) 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

Regulation of hemoglobin synthesis, iron metabolism, and maturation of Friend leukemic cells by 5-amino levulinic acid and hemin. Differentiation (1979) 0.82

Genetic services in Israel. Eur J Hum Genet (1997) 0.82

Intrafamilial variability in lysosomal storage diseases. Am J Med Genet (1987) 0.82

Sialic acid content and sialyltransferase activity in human lymphocytes with advancing age. Mech Ageing Dev (1988) 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

Do identical HLA-DR3 genes convey susceptibility to celiac disease and insulin dependent diabetes mellitus? Tissue Antigens (1984) 0.82

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. Genet Med (2001) 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