Incidence of seizures and EEG abnormalities among offspring of epileptic patients.

abstract：:The gene encoding the alpha-subunit of the human platelet-derived growth factor receptor (PDGFRA) maps to band q11-q12 of chromosome 4 by in situ hybridization, which was confirmed by Southern analysis of a Chinese hamster x human cell hybrid that retains only human chromosome 4. ...

journal_title：Human genetics

authors： Gronwald RG,Adler DA,Kelly JD,Disteche CM,Bowen-Pope DF

更新日期：1990-08-01 00:00:00

abstract：:The phenotype AK 3.3 in the isoenzyme system of human adenylate kinase has been found in two members of the Wayampi population of French Guiana. ...

journal_title：Human genetics

authors： Séger J,Tchen P,Feingold N,Grenand F,Bois E

更新日期：1978-09-19 00:00:00

abstract：:In our studies apolipoprotein E4 (APOE4) is associated with both early- and late-onset Alzheimer's disease. Alzheimer's patients from West Texas were screened for the APOE4 allele, which was found at frequencies of 0.43 and 0.59 in familial late- and early-onset cases. Sporadic cases had lower frequencies, but they st...

journal_title：Human genetics

authors： Poduslo SE,Riggs D,Schwankhaus J,Osborne A,Crawford F,Mullan M

更新日期：1995-11-01 00:00:00

abstract：:The p53 gene product is part of a pathway regulating growth arrest at the G1 checkpoint of the cell cycle. Mutation of other components of this pathway, including the products of the ataxia telangiectasia (AT), GADD45, mdm2, and p21WAF1/CIP1 genes may have effects comparable to mutations in the p53 gene. The GADD45 ge...

journal_title：Human genetics

authors： Blaszyk H,Hartmann A,Sommer SS,Kovach JS

更新日期：1996-04-01 00:00:00

abstract：:COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-o...

journal_title：Human genetics

authors： Booth KT,Ghaffar A,Rashid M,Hovey LT,Hussain M,Frees K,Renkes EM,Nishimura CJ,Shahzad M,Smith RJ,Ahmed Z,Azaiez H,Riazuddin S

更新日期：2020-12-01 00:00:00

abstract：:Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to ide...

journal_title：Human genetics

authors： Massingham LJ,Johnson KL,Scholl TM,Slonim DK,Wick HC,Bianchi DW

更新日期：2014-09-01 00:00:00

abstract：:A unified nomenclature for describing voltage-gated calcium channel genes is proposed. The terminology has been approved by the HUGO/GDB nomenclature committee. ...

journal_title：Human genetics

authors： Lory P,Ophoff RA,Nahmias J

更新日期：1997-08-01 00:00:00

abstract：:Susceptibility to viral bronchiolitis, the commonest cause of infant admissions to hospital in the industrialised world, is associated with polymorphism at the IL8 locus. Here we map the genomic boundaries of the disease association by case-control analysis and TDT in 580 affected UK infants. Markers for association m...

journal_title：Human genetics

authors： Hull J,Rowlands K,Lockhart E,Sharland M,Moore C,Hanchard N,Kwiatkowski DP

更新日期：2004-02-01 00:00:00

abstract：:A new biallelic polymorphism for FokI restriction enzyme due to C----T transition in the fourth intron of human DRD2 is described. It must be a usefull marker of this candidate gene for several mental disorders. ...

journal_title：Human genetics

authors： Lu CY,Gérard N,Méreaux AG,Chaventré A,Joly JP,Elion J,Krishnamoorthy R

更新日期：1992-05-01 00:00:00

abstract：:CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...

journal_title：Human genetics

authors： Holmes SE,Wentzell JS,Seixas AI,Callahan C,Silveira I,Ross CA,Margolis RL

更新日期：2006-09-01 00:00:00

abstract：:The precise control of gene expression programs is crucial for the establishment of the diverse gene activity patterns required for the correct development, patterning and differentiation of the myriad of cell types within an organism. The crucial importance of non-coding regions of the genome in the control of gene r...

journal_title：Human genetics

authors： Bhatia S,Kleinjan DA

更新日期：2014-07-01 00:00:00

abstract：:The secondary constriction in human chromosome 1 consists of a proximal segment stained by the GC-specific fluorochrome mithramycin and a distal segment stained by such fluorochromes as DAPI or DIPI, which show enhanced fluorescence intensities in AT-rich regions of the chromosomes. A study involving 21 individuals re...

journal_title：Human genetics

authors： Sigmund J,Schwarz S

更新日期：1979-01-19 00:00:00

abstract：:Eight polymorphic restriction enzyme sites at the phenylalanine hydroxylase (PAH) locus were analyzed from the parental chromosomes in 33 Danish nuclear families with at least one phenylketonuric (PKU) child. Determination of haplotypes of 66 normal chromosomes and 66 chromosomes bearing mutant allele(s) demonstrated ...

journal_title：Human genetics

authors： Chakraborty R,Lidsky AS,Daiger SP,Güttler F,Sullivan S,Dilella AG,Woo SL

更新日期：1987-05-01 00:00:00

abstract：:We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, ...

journal_title：Human genetics

authors： Naritomi Y,Naito Y,Nakashima H,Yokota E,Imamura T

更新日期：1988-09-01 00:00:00

abstract：:The sex of a conceptus at the early embryonic state was diagnosed in 1000 induced abortions. Specimens were obtained from women who terminated their pregnancies within 12 menstrual weeks on socio-economic indications. By making use of the triple checking procedures, such as the karyotypic analysis of Giemsa-stained sl...

journal_title：Human genetics

authors： Yamamoto M,Ito T,Watanabe GI

更新日期：1977-05-10 00:00:00

abstract：:Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...

journal_title：Human genetics

authors： Braig DU,Schäffer AA,Glocker E,Salzer U,Warnatz K,Peter HH,Grimbacher B

更新日期：2003-04-01 00:00:00

abstract：:A locus (CPX) responsible for X-linked cleft palate and ankyloglossia was previously mapped to the proximal long arm of the X chromosome through DNA marker linkage studies in two large kindred: an Icelandic family and a British Columbia (B.C.) Native family. In this study, additional linkage analyses have been perform...

journal_title：Human genetics

authors： Gorski SM,Adams KJ,Birch PH,Chodirker BN,Greenberg CR,Goodfellow PJ

更新日期：1994-08-01 00:00:00

abstract：:Fetal DNA in maternal plasma and serum has been shown to be a useful material for fetal gender determination and for screening tests for abnormal pregnancies except during early gestational ages. Maternal serum samples were obtained from 81 pregnant women during the 5th-10th weeks of gestation. Fetal gender was determ...

journal_title：Human genetics

authors： Honda H,Miharu N,Ohashi Y,Samura O,Kinutani M,Hara T,Ohama K

更新日期：2002-01-01 00:00:00

abstract：:The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...

journal_title：Human genetics

authors： Santis G,Osborne L,Knight R,Ramsay M,Williamson R,Hodson M

更新日期：1990-09-01 00:00:00

abstract：:Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to ...

journal_title：Human genetics

authors： Gamazon ER,Stranger BE

更新日期：2014-06-01 00:00:00

abstract：:To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...

journal_title：Human genetics

authors： Ko YL,Ko YS,Wu SM,Teng MS,Chen FR,Hsu TS,Chiang CW,Lee YS

更新日期：1997-09-01 00:00:00

abstract：:The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA methylation. Dysregulation of these genes causes a range of disorders affecting pre- and post-natal growth and neurological function. We investigated a cohort o...

journal_title：Human genetics

authors： Mackay DJ,Boonen SE,Clayton-Smith J,Goodship J,Hahnemann JM,Kant SG,Njølstad PR,Robin NH,Robinson DO,Siebert R,Shield JP,White HE,Temple IK

更新日期：2006-09-01 00:00:00

abstract：:An apparently different chromosome abnormality was observed in unstimulated blood cultures from an acute non-lymphocytic leukemic child: 11q- with G banding techniques and 17q- with R banding techniques. The abnormality is explained as a t(11;17) translocation, and the discrepancy between the G- and R-band patterns di...

journal_title：Human genetics

authors： Berger R,Bernheim A,Schaison G

更新日期：1981-01-01 00:00:00

abstract：:Peripheral blood cultures of five healthy chromosomally normal adults were used to study the lateral orientation of mitotic chromatids in satellite associations. Chromosomes were prepared after bromodeoxyuridine substitution for two S phases and the fluorescence-plus-Giemsa (FPG) technique. Conventionally stained prep...

journal_title：Human genetics

authors： Woodruff KM,Martin-DeLeon PA

更新日期：1982-01-01 00:00:00

abstract：:The homeodomain transcription factors (TFs) Pax6 (OMIM: 607108) and Prox1 (OMIM: 601546) critically regulate gene expression in lens development. While PAX6 mutations in humans can cause cataract, aniridia, microphthalmia, and anophthalmia, among other defects, Prox1 deletion in mice causes severe lens abnormalities, ...

journal_title：Human genetics

authors： Aryal S,Viet J,Weatherbee BAT,Siddam AD,Hernandez FG,Gautier-Courteille C,Paillard L,Lachke SA

更新日期：2020-12-01 00:00:00

abstract：:The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ hybridization (FISH) with "whole chromosome painting" probes derived from c...

journal_title：Human genetics

authors： Popp S,Jauch A,Schindler D,Speicher MR,Lengauer C,Donis-Keller H,Riethman HC,Cremer T

更新日期：1993-12-01 00:00:00

abstract：:A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...

journal_title：Human genetics

authors： Musumeci S,Schilirò G,Pizzarelli G,Tentori L,Marinucci M,Fontanarosa PP,Russo G

更新日期：1979-11-01 00:00:00

abstract：:Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...

journal_title：Human genetics

authors： Sadee W,Hartmann K,Seweryn M,Pietrzak M,Handelman SK,Rempala GA

更新日期：2014-10-01 00:00:00

abstract：:N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype...

journal_title：Human genetics

authors： Mashimo M,Suzuki T,Abe M,Deguchi T

更新日期：1992-09-01 00:00:00

abstract：:A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

journal_title：Human genetics

authors： Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

更新日期：1989-07-01 00:00:00