Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women.

abstract：:A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...

journal_title：Human genetics

authors： Ramasawmy R,Kotea N,Lu C,Sayada C,Baligadoo S,Krishnamoorthy R

更新日期：1993-06-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...

journal_title：Human genetics

authors： Douabin-Gicquel V,Soriano N,Ferran H,Wojcik F,Palierne E,Tamim S,Jovelin T,McKie AT,Le Gall JY,David V,Mosser J

更新日期：2001-10-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:A total of 12 mutations associated with acute intermittent porphyria (AIP) have been detected in the porphobilinogen deaminase gene in Swedish AIP families. Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a ...

journal_title：Human genetics

authors： Lundin G,Lee JS,Thunell S,Anvret M

更新日期：1997-07-01 00:00:00

abstract：:While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown. We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this "hit" is precipitated by environmental stressors biologically interacting with mat...

journal_title：Human genetics

authors： Devlin B,Klei L,Myles-Worsley M,Tiobech J,Otto C,Byerley W,Roeder K

更新日期：2007-07-01 00:00:00

abstract：:Recent studies have suggested that polymorphisms of the androgen receptor gene ( AR) may influence the risk of prostate cancer (PC) development and progression. Here, we analyzed the length of the CAG repeat of the AR gene in 1363 individuals, including patients with PC, benign prostate hyperplasia (BPH), and populati...

journal_title：Human genetics

authors： Mononen N,Ikonen T,Autio V,Rökman A,Matikainen MP,Tammela TL,Kallioniemi OP,Koivisto PA,Schleutker J

更新日期：2002-08-01 00:00:00

abstract：:We have studied the incidence of alpha-thalassemia in normal and SS individuals from Senegal, Benin, Upper Volta, and Central Republican Africa. The alpha thal gene frequency is not significantly different in the controls from the various populations and in the SS patients from Senegal. In contrast it is compatible wi...

journal_title：Human genetics

authors： Pagnier J,Dunda-Belkhodja O,Zohoun I,Teyssier J,Baya H,Jaeger G,Nagel RL,Labie D

更新日期：1984-01-01 00:00:00

abstract：:We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...

journal_title：Human genetics

authors： Barni N,Talmud PJ,Carlsson P,Azoulay M,Darnfors C,Harding D,Weil D,Grzeschik KH,Bjursell G,Junien C

更新日期：1986-08-01 00:00:00

abstract：:Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...

journal_title：Human genetics

authors： Teng YS,Tan SG,Lopez CG,Ng T,Lie-Injo LE

更新日期：1978-04-24 00:00:00

abstract：:Variability in the susceptibility to infectious disease and its clinical manifestation can be determined by variation in the environment and by genetic variation in the pathogen and the host. Despite several successes based on candidate gene studies, defining the host variation affecting infectious disease has not bee...

journal_title：Human genetics

authors： Hollox EJ,Hoh BP

更新日期：2014-10-01 00:00:00

abstract：:Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutat...

journal_title：Human genetics

authors： Evans SC,Mims B,McMasters KM,Foster CJ,deAndrade M,Amos CI,Strong LC,Lozano G

更新日期：1998-06-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...

journal_title：Human genetics

authors： Santorsola M,Calabrese C,Girolimetti G,Diroma MA,Gasparre G,Attimonelli M

更新日期：2016-01-01 00:00:00

abstract：:We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

journal_title：Human genetics

authors： Lázaro C,Gaona A,Estivill X

更新日期：1994-03-01 00:00:00

abstract：:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

journal_title：Human genetics

authors： Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

更新日期：2013-11-01 00:00:00

abstract：:The decade since the publication of the Human Genome Project draft has ended with the discovery of hundreds of genomic markers related to diseases and phenotypes. However, the project has not yet delivered on its promise to tailor treatments for individuals. The number of genomic markers in clinical practice is very s...

journal_title：Human genetics

authors： Tajik P,Bossuyt PM

更新日期：2011-07-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:A cytogenetic follow-up has been made of nine mixoploid children found among 11 148 consecutive newborn children. The frequency of the cell line with normal chromosomes increased in all but two, and the increase was statistically significant, being from 20% to 39% in four cases, and from 1% to 17% in three, while in o...

journal_title：Human genetics

authors： Nielsen J,Krag-Olsen B

更新日期：1980-01-01 00:00:00

abstract：:Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to identify additional novel breast cancer susceptibility variants and to rep...

journal_title：Human genetics

authors： Sehrawat B,Sridharan M,Ghosh S,Robson P,Cass CE,Mackey JR,Greiner R,Damaraju S

更新日期：2011-10-01 00:00:00

abstract：:Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...

journal_title：Human genetics

authors： Krepinsky AB,Heddle JA,German J

更新日期：1979-01-01 00:00:00

abstract：:Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identi...

journal_title：Human genetics

authors： Brodaty H,Mitchell P,Luscombe G,Kwok JJ,Badenhop RF,McKenzie R,Schofield PR

更新日期：2002-01-01 00:00:00

abstract：:DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...

journal_title：Human genetics

authors： Peeters AV,Van Gaal LF,Theart L,Langenhoven E,Kotze MJ

更新日期：1995-10-01 00:00:00

abstract：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:Eukaryotic genomes contain 5-methylcytosine (5mC) as a rare base.5mC arises by postsynthetic modification of cytosine and occurs, at least in animals, predominantly in the dinucleotide CpG. The base is not distributed randomly in these genomes but conforms to a pattern. This pattern varies between taxa but appears to ...

journal_title：Human genetics

authors： Cooper DN

更新日期：1983-01-01 00:00:00

abstract：:Two previous single case reports from the literature showed the presence or absence of centromeric antigens at the site of the inactive centromeres in one (X;X) and in one (9;11) dicentric chromosome. We studied nine different dicentric chromosomes using anticentromeric antibodies and immunofluorescence techniques. In...

journal_title：Human genetics

authors： Peretti D,Maraschio P,Lambiase S,Lo Curto F,Zuffardi O

更新日期：1986-05-01 00:00:00

abstract：:Hair morphology is a highly divergent phenotype among human populations. We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian population. However, these Southeast Asian popul...

journal_title：Human genetics

authors： Fujimoto A,Ohashi J,Nishida N,Miyagawa T,Morishita Y,Tsunoda T,Kimura R,Tokunaga K

更新日期：2008-09-01 00:00:00

abstract：:A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1. ...

journal_title：Human genetics

authors： de Verneuil H,Grandchamp B,Foubert C,Weil D,N'Guyen VC,Gross MS,Sassa S,Nordmann Y

更新日期：1984-01-01 00:00:00

abstract：:Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-f...

journal_title：Human genetics

authors： Cooper DN,Youssoufian H

更新日期：1988-02-01 00:00:00

abstract：:A case of human piebaldism with white forelock is presented, with emphasis on the unusual aspect of expansion and diminution of the hypomelanotic areas. Possible mechanisms of piebaldism and of changes in the hypomelanotic areas are discussed. ...

journal_title：Human genetics

authors： Davis BK,Verdol LD

更新日期：1976-10-28 00:00:00

abstract：:A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...

journal_title：Human genetics

authors： Wen WN,Lieu TL,Chang HJ,Wuu SW,Yau ML,Jan KY

更新日期：1981-01-01 00:00:00