Published in Hum Genet on June 10, 1977
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. Am J Hum Genet (1987) 0.90
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. Eur J Hum Genet (2011) 0.78
Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med (1998) 8.49
Intestinal microflora in early infancy: composition and development. Acta Paediatr Suppl (2003) 3.34
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet (1983) 2.93
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet (1980) 1.82
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet (1994) 1.78
In vitro study of the DNA replication patterns of somatic chromosomes of Drosophila melanogaster. Exp Cell Res (1966) 1.68
Presumptive x-autosome translocation in a cow: preferential inactivation of the normal x chromosome. Nature (1968) 1.65
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet (1996) 1.52
A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet (2001) 1.50
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A (1989) 1.43
Late diagnosis in severe and mild intellectual disability in adulthood. J Intellect Disabil Res (2004) 1.43
The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet (1983) 1.40
Cytogenetics of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. Cancer Genet Cytogenet (1992) 1.39
Multiple clonal chromosome abnormalities in a superficial basal cell epithelioma. Cancer Genet Cytogenet (1989) 1.38
Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's Syndrome. Hum Genet (1982) 1.28
Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile. Hum Genet (1977) 1.24
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet (1979) 1.23
A new chromosome instability disorder. Clin Genet (1986) 1.23
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet (2007) 1.20
Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet (1996) 1.19
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet (1981) 1.18
Y chromosome controls mating behaviour on Anopheles mosquitoes. Nature (1977) 1.17
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics (1991) 1.12
Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet (1981) 1.08
Are gender differences in QTc present at birth? MISNES Investigators. Multicenter Italian Study on Neonatal Electrocardiography and Sudden Infant Death Syndrome. Am J Cardiol (1995) 1.05
Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. Hum Reprod (1987) 1.02
Dup(3)(p2----pter) in two families, including one infant with cyclopia. Am J Med Genet (1985) 1.01
The chemical code of porcine enteric neurons and the number of enteric glial cells are altered by dietary probiotics. Neurogastroenterol Motil (2010) 1.01
Evidence for an ancestral alphoid domain on the long arm of human chromosome 2. Hum Genet (1992) 1.01
Structural abnormalities of chromosome 18. II. Two familial translocations, B-18 and 16-18, ascertained through unbalanced forms. Ann Genet (1971) 1.00
A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet (1980) 0.98
Cd bands and centromeric function in dicentric chromosomes. Hum Genet (1980) 0.98
Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy). Eur J Epidemiol (2003) 0.98
15/15 translocation in Prader-Willi syndrome. J Med Genet (1977) 0.97
Gut-trophic feed additives and their effects upon the gut structure and intestinal metabolism. State of the art in the pig, and perspectives towards humans. Histol Histopathol (2006) 0.96
Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Science (1967) 0.96
X-linked cataract. Ann Hum Genet (1967) 0.95
Absence of beta-globin synthesis and excess of gamma-globin synthesis in homozygous beta-thalassaemic subjects from the Ferrara region. Nature (1968) 0.95
Abnormal methylation does not prevent X inactivation in ICF patients. Cytogenet Cell Genet (1999) 0.95
Fecal flora measurements of breastfed infants using an integrated transport and culturing system. Acta Paediatr (2003) 0.95
Incorporation of tritium-labelled actinomycin in a human cell line. Exp Cell Res (1966) 0.95
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. J Med Genet (1992) 0.94
Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet (1984) 0.94
Male infertility and 13-14 translocation. Lancet (1973) 0.94
Prebiotics in infant formulas. J Clin Gastroenterol (2004) 0.94
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. Hum Genet (1986) 0.94
Duodenal obstruction due to a preduodenal portal vein in a newborn. J Pediatr Surg (1980) 0.93
Extra minute chromosome in somatic and germ-line cells of the same person. Lancet (1966) 0.93
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. Cancer Genet Cytogenet (1991) 0.92
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a glucagonoma from two subjects with MEN1. Cancer Genet Cytogenet (1992) 0.91
The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet (1982) 0.91
Localization of Y chromosome sequences and X chromosomal replication studies in XX males. Hum Genet (1989) 0.91
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J Med Genet (1992) 0.91
Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum Genet (1981) 0.91
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum Genet (1993) 0.91
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J Med Genet (1998) 0.90
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet (2004) 0.90
48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes. Cytogenetics (1968) 0.90
False-positive and false-negative findings on chorionic villus sampling. Prenat Diagn (1987) 0.90
Thrombocytopenic purpura as the only manifestation of rubella. Lancet (1969) 0.90
Timing of DNA replication of translocated Y chromosome sections in somatic cells of Drosophila melanogaster. Chromosoma (1969) 0.90
Apert's syndrome: differential in vitro production of matrix macromolecules and its regulation by interleukins. Eur J Clin Invest (1997) 0.90
Acidic oligosaccharides from pectin hydrolysate as new component for infant formulae: effect on intestinal flora, stool characteristics, and pH. J Pediatr Gastroenterol Nutr (2005) 0.89
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet (1993) 0.89
Supplementation of an adapted formula with bovine lactoferrin: 1. Effect on the infant faecal flora. Acta Paediatr (1992) 0.88
Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder. J Med Genet (1989) 0.88
Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus. Hum Genet (1982) 0.88
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Hum Genet (1983) 0.88
Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases. Hum Genet (1982) 0.88
The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect. Hum Genet (1978) 0.88
High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimate of the gene frequency. Hum Genet (1982) 0.87
The correlation between red-cell survival and excess of alpha-globin synthesis in beta-thalassemia. Br J Haematol (1969) 0.87
Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter? Hum Genet (1989) 0.87
Postnatal ultrasound screening of urinary malformations. J Urol (1992) 0.87
Endocrine function and diagnostic problems in a prepubertal case of 48,XXYY. J Genet Hum (1978) 0.86
Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son. Ann Genet (1971) 0.86
Supplementation of an adapted formula with bovine lactoferrin. 2. Effects on serum iron, ferritin and zinc levels. Acta Paediatr (1992) 0.86
BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities. Cytogenet Cell Genet (1978) 0.85
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet (1991) 0.85
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. J Med Genet (1997) 0.85
Nonspherocytic haemolytic anaemia and severe jaundice in a newborn with partial pyruvate kinase deficiency. Acta Paediatr Scand (1968) 0.85
Non-fluorescent Y chromosome in a 45,X-46,XY mosaic. Ann Genet (1972) 0.85
Homozygotes for the autosomal dominant neoplasia syndrome (MEN1). Am J Hum Genet (1993) 0.85
Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. Int J Radiat Biol (1997) 0.84
Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome. Ann Genet (1990) 0.84
Neonatal periventricular leukomalacia: diagnosis and evolution evaluated by real-time ultrasound. Helv Paediatr Acta (1986) 0.84
Dietary supplements for the lactating mother: influence on the trace element content of milk. Acta Paediatr Suppl (1999) 0.84
Involvement of 9q22.1-31.3 region in pyloric stenosis. Clin Genet (1998) 0.84