Alport syndrome: a genetic study of 31 families.

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：:H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,...

journal_title：Human genetics

authors： Fraccaro M,Mayerová A,Wolf U,Bühler E,Gebauer J,Gilgenkrantz S,Lindsten J,Lo Curto F,Ritzén EM

更新日期：1982-01-01 00:00:00

abstract：:By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and ...

journal_title：Human genetics

authors： Danieli GA,Mostacciuolo ML,Bonfante A,Angelini C

更新日期：1977-02-11 00:00:00

abstract：:Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...

journal_title：Human genetics

authors： Kennedy RB,Ovsyannikova IG,Pankratz VS,Haralambieva IH,Vierkant RA,Jacobson RM,Poland GA

更新日期：2012-09-01 00:00:00

abstract：:Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, and have been designated...

journal_title：Human genetics

authors： Graham A,Kalsheker NA,Bamforth FJ,Newton CR,Markham AF

更新日期：1990-10-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...

journal_title：Human genetics

authors： Wang MH,Fiocchi C,Zhu X,Ripke S,Kamboh MI,Rebert N,Duerr RH,Achkar JP

更新日期：2014-05-01 00:00:00

abstract：:Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic sut...

journal_title：Human genetics

authors： Schinzel A,Hayashi K,Schmid W

更新日期：1976-04-15 00:00:00

abstract：:Only two genome-wide association (GWA) screens have been published for melanoma (Nat Genet 47:920-925, 2009; Nat Genet 40:838-840, 2008). Using a unique approach, we performed a genome-wide association study in 156 related melanoma cases from 34 high-risk Utah pedigrees. Genome-wide association analysis was performed ...

journal_title：Human genetics

authors： Teerlink C,Farnham J,Allen-Brady K,Camp NJ,Thomas A,Leachman S,Cannon-Albright L

更新日期：2012-01-01 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 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：:Using "new" techniques (malic acid thin layer agarose gel electrophoresis and/or isoelectric focusing), the polymorphism of the human red cell isozyme system esterase D (ESD) was shown to be extended. We report the gene frequencies observed among 312 unrelated Caucasian individuals living in the Düsseldorf area. The f...

journal_title：Human genetics

authors： Henke J,Schweitzer H,Bär W,Weidinger S,Weissmann J,Baur MP

更新日期：1986-05-01 00:00:00

abstract：:A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27 leads to Xqter region. ...

journal_title：Human genetics

authors： Chance PF,Dyer KA,Kurachi K,Yoshitake S,Ropers HH,Wieacker P,Gartler SM

更新日期：1983-01-01 00:00:00

abstract：:A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...

journal_title：Human genetics

authors： Zabel B,Hansen S,Hilig U,Gröting-Imhof H

更新日期：1977-04-07 00:00:00

abstract：:A highly polymorphic CA repeat was identified in a cosmid containing the 5' end of the NF2 tumour suppressor gene. This marker has proved useful in presymptomatic diagnosis in affected families. ...

journal_title：Human genetics

authors： Bourn D,Strachan T

更新日期：1995-06-01 00:00:00

abstract：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

journal_title：Human genetics

authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

更新日期：1996-10-01 00:00:00

abstract：:Lod scores are reported for 86 biochemical to cytogenetic marker comparisons in Black kindred. Analysis with unconfirmed locus assignments resulted in 12 exclusions of close linkage. ...

journal_title：Human genetics

authors： Fogle TA,Namboodiri KK,Elston RC,McKenzie WH,Hames CG

更新日期：1980-01-01 00:00:00

abstract：:The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child a...

journal_title：Human genetics

authors： Olerup O,Luthman H,Ritzén EM,Haglund-Stengler B

更新日期：1990-10-01 00:00:00

abstract：:Electrophoretic study of esterase D in 1027 mother-child pairs showed an atypical segregation of EsD alleles in one pair. The family analysis confirmed the evidence of a 'silent' gene (EsD0), which was observed in child, mother and grandfather. R banding of the metaphasal chromosomes revealed the normal appearance of ...

journal_title：Human genetics

authors： Kozioł P,Stepien J

更新日期：1980-02-01 00:00:00

abstract：:The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

journal_title：Human genetics

authors： Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

更新日期：1997-05-01 00:00:00

abstract：:Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these ge...

journal_title：Human genetics

authors： Xu R,Feng S,Li Z,Fu Y,Yin P,Ai Z,Liu W,Yu X,Li M

更新日期：2014-10-01 00:00:00

abstract：:We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...

journal_title：Human genetics

authors： Kuribayashi F,de Boer M,Leusen JH,Verhoeven AJ,Roos D

更新日期：1996-05-01 00:00:00

abstract：:As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...

journal_title：Human genetics

authors： Greiner J,Krüger J,Palden L,Jung EG,Vogel F

更新日期：1983-01-01 00:00:00

abstract：:Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...

journal_title：Human genetics

authors： Scherer SJ,Seib T,Seitz G,Dooley S,Welter C

更新日期：1996-01-01 00:00:00

abstract：:A continuous increase in the incidence of Down syndrome in Sweden was noted during 1979-1981. This increase mainly occurred among children of younger mothers and was more pronounced for the males than for the females. There was no evidence of a significant seasonal variation, increased frequency of prematurely born ch...

journal_title：Human genetics

authors： Iselius L,Lindsten J

更新日期：1986-02-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein comple...

journal_title：Human genetics

authors： Ebermann I,Scholl HP,Charbel Issa P,Becirovic E,Lamprecht J,Jurklies B,Millán JM,Aller E,Mitter D,Bolz H

更新日期：2007-04-01 00:00:00

abstract：:Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...

journal_title：Human genetics

authors： Wong SQ,Kumar AV,Mills J,Lapierre LR

更新日期：2020-03-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have primarily focused on marginal effects for individual markers and have incorporated external functional information only after identifying robust statistical associations. We applied a new approach combining the genetics of gene expression and functional classification of ge...

journal_title：Human genetics

authors： Zhang M,Liang L,Morar N,Dixon AL,Lathrop GM,Ding J,Moffatt MF,Cookson WO,Kraft P,Qureshi AA,Han J

更新日期：2012-04-01 00:00:00

abstract：:The DNA ancestry testing industry is more than a decade old, yet details about it remain a mystery: there remain no reliable, empirical data on the number, motivations, and attitudes of customers to date, the number of products available and their characteristics, or the industry customs and standard practices that ha...

journal_title：Human genetics

authors： Wagner JK,Weiss KM

更新日期：2012-01-01 00:00:00

abstract：:Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures...

journal_title：Human genetics

authors： Dallapiccola B,Porfirio B,Mokini V,Alimena G,Isacchi G,Gandini E

更新日期：1985-01-01 00:00:00

abstract：:Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across differ...

journal_title：Human genetics

authors： Sampat R,Fu R,Larovere LE,Torres RJ,Ceballos-Picot I,Fischbach M,de Kremer R,Schretlen DJ,Puig JG,Jinnah HA

更新日期：2011-01-01 00:00:00