Published in Prenat Diagn on September 12, 1984
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet (2000) 1.73
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
Transposition of human immunoglobulin V kappa genes within the same chromosome and the mechanism of their amplification. EMBO J (1990) 0.89
A human immunoglobulin kappa orphon without sequence defects may be the product of a pericentric inversion. Nucleic Acids Res (1990) 0.86
The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. Am J Hum Genet (2007) 0.79
Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies. Am J Hum Genet (1993) 0.78
Mutations causing charge alterations in regulatory subunits of the cAMP-dependent protein kinase of cultured S49 lymphoma cells. Cell (1977) 2.20
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
Canine scent detection in the diagnosis of lung cancer: revisiting a puzzling phenomenon. Eur Respir J (2011) 1.69
Chromosome studies in 5,049 consecutive newborn children. Clin Genet (1973) 1.69
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Identification of Lck-binding elements in tip of herpesvirus saimiri. J Biol Chem (1995) 1.43
Ring chromosome 18 in mother and daughter. J Ment Defic Res (1970) 1.39
[Embolization of cerebral arteriovenous malformations--methods and clinical results]. Neurochirurgia (Stuttg) (1993) 1.38
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J Med Genet (2000) 1.30
Schizophrenia and sex chromosome anomalies. Schizophr Bull (1994) 1.29
X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet (1985) 1.17
Additional small acrocentric chromosome: two cases. J Ment Defic Res (1969) 1.17
Assignment of the major histocompatibility complex to chromosome No. 6 in a family with a pericentric inversion. Hum Hered (1974) 1.13
Frequency of deletion of short arm satellites in acrocentric chromosomes. J Med Genet (1974) 1.13
Mutagenesis in S49 mouse lymphoma cells: induction of resistance to ouabain, 6-thioguanine, and dibutyryl cyclic AMP. Proc Natl Acad Sci U S A (1977) 1.12
European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet (1997) 1.11
Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn (1997) 1.11
Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization. Genomics (1992) 1.10
Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects. Q J Med (1985) 1.08
Lactobacillus acidophilus 74-2 and Bifidobacterium animalis subsp lactis DGCC 420 modulate unspecific cellular immune response in healthy adults. Eur J Clin Nutr (2007) 1.05
Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+. Humangenetik (1974) 1.04
Partial trisomy 1q syndrome. Clin Genet (1979) 1.04
Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome. Clin Genet (1985) 1.00
Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome. Hum Genet (1978) 1.00
Bisatellited extra small metacentric chromosome in newborns. Clin Genet (1974) 0.97
Evidence of decreased risk of cancer in individuals with fragile X. Am J Med Genet (2001) 0.96
Herpesvirus ateles gene product Tio interacts with nonreceptor protein tyrosine kinases. J Virol (1999) 0.96
The immune system in healthy adults and patients with atopic dermatitis seems to be affected differently by a probiotic intervention. Clin Exp Allergy (2007) 0.96
Molecular mechanisms of cyclic AMP action: a genetic approach. Recent Prog Horm Res (1976) 0.95
Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet (2005) 0.95
Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. Hum Genet (1985) 0.95
Occurrence of cancer in women with Turner syndrome. Br J Cancer (1996) 0.93
Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. Ann Genet (1982) 0.93
Autosomal reciprocal translocations in newborn children and their relatives. Humangenetik (1974) 0.91
Lysergide and chromosome abnormalities. Br Med J (1968) 0.91
Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field. Ophthalmic Paediatr Genet (1987) 0.91
Lithium and chromosome abnormalities. Lancet (1969) 0.90
A girl with karyotype 46,XX,del(7)(pter leads to q32:). Hum Genet (1979) 0.90
Inherited tandem duplication dup(X) (q131-q212) in a male proband. Clin Genet (1985) 0.90
Multiparametric microsensor chips for screening applications. Fresenius J Anal Chem (2001) 0.89
Presumptive Y-15 and Y-22 translocation in two families. Hereditas (1972) 0.89
A girl with karyotype 46,XX,del(7)(qter-p 15:). Humangenetik (1975) 0.88
Herpesvirus saimiri Tip gene causes T-cell lymphomas in transgenic mice. DNA Cell Biol (2001) 0.88
Safety and pharmacokinetics of anti-TFPI antibody (concizumab) in healthy volunteers and patients with hemophilia: a randomized first human dose trial. J Thromb Haemost (2015) 0.86
Linkage studies in Menkes' disease. The Xg blood group system and C-banding of the X chromosome. Ann Hum Genet (1984) 0.86
Hydatidiform mole: cytogenetically unusual cases and their implications for the present classification. Am J Obstet Gynecol (1987) 0.86
Chromosome abnormalities in patients treated with chlorpromazine, perphenazine, and lysergide. Br Med J (1969) 0.85
Cytotoxicity of plants used in traditional medicine in Yemen. Fitoterapia (2005) 0.85
Monosomy for the centromeric and juxtacentromeric region of chromosome 21. Humangenetik (1974) 0.85
The neuronal noradrenaline transport system of PC-12 cells: kinetic analysis of the interaction between noradrenaline, Na+ and Cl- in transport. Naunyn Schmiedebergs Arch Pharmacol (1986) 0.85
Safety and pharmacokinetics of subcutaneously administered recombinant activated factor VII (rFVIIa). J Thromb Haemost (2011) 0.85
A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization. Hum Genet (1978) 0.85
Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth. Hum Genet (1991) 0.85
Quantitative forward-mutation specificity of mono-functional alkylating agents, ICR-191, and aflatoxin B1 in mouse lymphoma cells. Mutat Res (1982) 0.85
Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. Hum Genet (1987) 0.84
Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Eur J Hum Genet (1999) 0.84
Down-regulation of Akt/PKB in senescent cardiac fibroblasts impairs PDGF-induced cell proliferation. Cardiovasc Res (2001) 0.84
Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth? J Med Genet (1998) 0.83
Letter: Brilliantly fluorescing enlarged short arms D or G. Lancet (1974) 0.83
Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet (1995) 0.83
A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region. Hum Genet (1997) 0.83
Origin of the extra chromosome in trisomy 16. Clin Genet (1976) 0.83
Trisomy 14 mosaicism in a 2 year old girl. J Med Genet (1986) 0.82
Chromosome abnormalities and psychotropic drugs. Nature (1968) 0.82
Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis. Trans Ophthalmol Soc U K (1986) 0.82
Origin of triploidy in spontaneous abortuses. Ann Hum Genet (1979) 0.82
Pre- and postoperative therapy with GnRH agonist for endometrial resection. A prospective, randomized study. Acta Obstet Gynecol Scand (1997) 0.82
Centromere heteromorphism in chromosome 19. Clin Genet (1985) 0.81
A comparison between flow cytometric ploidy investigation and chromosome analysis of 32 human colorectal tumors. Cytometry (1986) 0.81
Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier. J Med Genet (1994) 0.81
Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. Am J Med Genet (1995) 0.81
A family with 15-22 translocation. Hereditas (1972) 0.81
A supernumerary marker chromosome with a neocentromere derived from 5p14-->pter. J Med Genet (2001) 0.80
Klinefelter's syndrome in children. J Child Psychol Psychiatry (1970) 0.80
Length of the Y chromosome in criminal males. Clin Genet (1972) 0.80
Ring chromosome 18 and gamma-M-globulin abnormality. Lancet (1969) 0.79
Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities. Cancer Genet Cytogenet (1998) 0.79
Application of rRNA-targeted oligonucleotide probes in biotechnology. Appl Microbiol Biotechnol (2001) 0.79
Genetic analysis of repeated, biparental, diploid, hydatidiform moles. Cancer Genet Cytogenet (1993) 0.79
Selenium in serum and whole blood in patients with surgical interventions. Biol Trace Elem Res (1995) 0.78
Chromosomal studies of children with developmental language retardation. Dev Med Child Neurol (1982) 0.78
Sequence-specific 1H, 13C and 15N resonance assignments of lymphocyte specific kinase unique and SH3 domains. J Biomol NMR (2001) 0.78
Stratified rates of cesarean sections and spontaneous vaginal deliveries. Data from five labor wards in Denmark--1996. Acta Obstet Gynecol Scand (2000) 0.78
Three large Danish families with a paracentric inversion in the short arm of chromosome N. 5. Ann Genet (1988) 0.78
Mental retardation in Turner's syndrome. J Ment Defic Res (1974) 0.77
Marker chromosomes in parents of spontaneous abortuses. Humangenetik (1974) 0.77
Screening the molecular surface of human anticoagulant protein C: a search for interaction sites. J Comput Aided Mol Des (2001) 0.77
The mutagenic effect of benzene, toluene and xylene studied by the SCE technique. Mutat Res (1978) 0.77
Linkage analysis between manic-depressive illness and markers on the long arm of chromosome 11. Am J Med Genet (1995) 0.77
Hydatidiform mole: genetic origin in polyploid conceptuses. Hum Genet (1987) 0.77
Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype. Am J Med Genet A (2005) 0.77
Cytogenetic analysis and flow cytometric DNA measurement of a human tumor with pronounced hypodiploidy. Cancer Genet Cytogenet (1981) 0.77
Father and son with karyotype 47,XY,?Yq-. Humangenetik (1971) 0.77
Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection. Prenat Diagn (1997) 0.77
DNA techniques in prenatal diagnosis and in genetic pathology. Am J Med Genet Suppl (1987) 0.77
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia. Clin Dysmorphol (2000) 0.77
Fre-2, a locus closely linked to Fv-2, is rearranged in some erythroleukemias induced by Friend murine leukemia virus. Leukemia (1997) 0.76
Genetically different cell subpopulations in hydatidiform moles. A study of three cases by RFLP, flow cytometric, cytogenetic, HLA, and morphologic analyses. Cancer Genet Cytogenet (1989) 0.76
Childhood of males with the XYY syndrome. J Autism Child Schizophr (1973) 0.75
Prenatal and postnatal prevalence of Turner's syndrome. No reason to doubt standard of prenatal diagnosis. BMJ (1996) 0.75