A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci.

abstract：:Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, SMN1. An SMN1 paralog, SMN2, differs by a C-->T transition in exon 7 that causes substantial skipping of this exon, such that SMN2 expresses only low levels of functional protein. A better u...

journal_title：American journal of human genetics

authors： Cartegni L,Hastings ML,Calarco JA,de Stanchina E,Krainer AR

更新日期：2006-01-01 00:00:00

abstract：:Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component, with evidence of linkage to chromosomes 6p21.3 (PDB1) and 18q21-22 (PDB2) in some pedigrees. There is evidence of genetic heterogeneity, with other pedigrees sh...

journal_title：American journal of human genetics

authors： Good DA,Busfield F,Fletcher BH,Duffy DL,Kesting JB,Andersen J,Shaw JT

更新日期：2002-02-01 00:00:00

abstract：:Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohor...

journal_title：American journal of human genetics

authors： Pehlivan D,Bayram Y,Gunes N,Coban Akdemir Z,Shukla A,Bierhals T,Tabakci B,Sahin Y,Gezdirici A,Fatih JM,Gulec EY,Yesil G,Punetha J,Ocak Z,Grochowski CM,Karaca E,Albayrak HM,Radhakrishnan P,Erdem HB,Sahin I,Yildirim

更新日期：2019-07-03 00:00:00

abstract：:Somatic cell hybrids were selected that retain a derivative chromosome 5 from an individual in which the p15.1-pter segment of chromosome 5 is replaced with the p15.1-pter segment of chromosome 4. Hybrids that retain this derivative chromosome exclusively were found to be positive for G8, a DNA marker closely linked t...

journal_title：American journal of human genetics

authors： Wasmuth JJ,Carlock LR,Smith B,Immken LL

更新日期：1986-09-01 00:00:00

abstract：:Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. We hypothesize that by analyzing and integrating dysregulated gene expression and pathways common to humans with Down syndrome (DS) and mouse models we can discover novel targets for prenatal t...

journal_title：American journal of human genetics

authors： Guedj F,Siegel AE,Pennings JLA,Alsebaa F,Massingham LJ,Tantravahi U,Bianchi DW

更新日期：2020-11-05 00:00:00

abstract：:Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we rep...

journal_title：American journal of human genetics

authors： Antonellis A,Ellsworth RE,Sambuughin N,Puls I,Abel A,Lee-Lin SQ,Jordanova A,Kremensky I,Christodoulou K,Middleton LT,Sivakumar K,Ionasescu V,Funalot B,Vance JM,Goldfarb LG,Fischbeck KH,Green ED

更新日期：2003-05-01 00:00:00

abstract：:DNA was extracted from the skeletal remains of 62 specimens excavated from the Egyin Gol necropolis, in northern Mongolia. This burial site is linked to the Xiongnu period and was used from the 3rd century b.c. to the 2nd century a.d. Three types of genetic markers were used to determine the genetic relationships betw...

journal_title：American journal of human genetics

authors： Keyser-Tracqui C,Crubézy E,Ludes B

更新日期：2003-08-01 00:00:00

abstract：:A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The ind...

journal_title：American journal of human genetics

authors： Lane AB,Young E,Jenkins T

更新日期：1980-11-01 00:00:00

abstract：:We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnorm...

journal_title：American journal of human genetics

authors： Thomas IT,Frias JL,Cantu ES,Lafer CZ,Flannery DB,Graham JG Jr

更新日期：1989-08-01 00:00:00

abstract：:Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encodin...

journal_title：American journal of human genetics

authors： Arngrímsson R,Hayward C,Nadaud S,Baldursdóttir A,Walker JJ,Liston WA,Bjarnadóttir RI,Brock DJ,Geirsson RT,Connor JM,Soubrier F

更新日期：1997-08-01 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypica...

journal_title：American journal of human genetics

authors： Luscan R,Mechaussier S,Paul A,Tian G,Gérard X,Defoort-Dellhemmes S,Loundon N,Audo I,Bonnin S,LeGargasson JF,Dumont J,Goudin N,Garfa-Traoré M,Bras M,Pouliet A,Bessières B,Boddaert N,Sahel JA,Lyonnet S,Kaplan J,Cowa

更新日期：2017-12-07 00:00:00

abstract：:Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to...

journal_title：American journal of human genetics

authors： Timms AE,Crane AM,Sims AM,Cordell HJ,Bradbury LA,Abbott A,Coyne MR,Beynon O,Herzberg I,Duff GW,Calin A,Cardon LR,Wordsworth BP,Brown MA

更新日期：2004-10-01 00:00:00

abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...

journal_title：American journal of human genetics

authors： Funderburk SJ,Sparkes RS,Klisak I,Law ML

更新日期：1984-07-01 00:00:00

abstract：:Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...

journal_title：American journal of human genetics

authors： Sun L,Cox NJ,McPeek MS

更新日期：2002-02-01 00:00:00

abstract：:During the course of prenatal diagnosis for beta-thalassemia in Chinese patients, we encountered a mutation that was not detectable by oligonucleotides for the known Chinese mutations. Amplification of the beta-globin gene by the polymerase chain reaction and direct DNA sequencing revealed a previously undescribed -30...

journal_title：American journal of human genetics

authors： Cai SP,Zhang JZ,Doherty M,Kan YW

更新日期：1989-07-01 00:00:00

abstract：:X inactivation involves initiation, propagation, and maintenance of genetic inactivation. Studies of replication timing in X;autosome translocations have suggested that X inactivation may spread into adjacent autosomal DNA. To examine the inactivation of autosomal material at the molecular level, we assessed the trans...

journal_title：American journal of human genetics

authors： White WM,Willard HF,Van Dyke DL,Wolff DJ

更新日期：1998-07-01 00:00:00

abstract：:The rough draft of the human genome map has been used to identify most of the functional genes in the human genome, as well as to identify nucleotide variations, known as "single-nucleotide polymorphisms" (SNPs), in these genes. By use of advanced biotechnologies, researchers are beginning to genotype thousands of SNP...

journal_title：American journal of human genetics

authors： Zhao LP,Li SS,Khalid N

更新日期：2003-05-01 00:00:00

abstract：:Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ~50,000 SNPs in up to 87,736 individuals of European ancestry and combined these in a meta-analy...

journal_title：American journal of human genetics

authors： Tragante V,Barnes MR,Ganesh SK,Lanktree MB,Guo W,Franceschini N,Smith EN,Johnson T,Holmes MV,Padmanabhan S,Karczewski KJ,Almoguera B,Barnard J,Baumert J,Chang YP,Elbers CC,Farrall M,Fischer ME,Gaunt TR,Gho JM,Gieg

更新日期：2014-03-06 00:00:00

abstract：:The ascertainment problem arises when families are sampled by a nonrandom process and some assumption about this sampling process must be made in order to estimate genetic parameters. Under classical ascertainment assumptions, estimation of genetic parameters cannot be separated from estimation of the parameters of th...

journal_title：American journal of human genetics

authors： Shute NC,Ewens WJ

更新日期：1988-10-01 00:00:00

abstract：:Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate int...

journal_title：American journal of human genetics

authors： O'Quinn JR,Hennekam RC,Jorde LB,Bamshad M

更新日期：1998-01-01 00:00:00

abstract：:Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in...

journal_title：American journal of human genetics

authors： Lewis RA,Shroyer NF,Singh N,Allikmets R,Hutchinson A,Li Y,Lupski JR,Leppert M,Dean M

更新日期：1999-02-01 00:00:00

abstract：:A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y an...

journal_title：American journal of human genetics

authors： Rosenfeld RG,Luzzatti L,Hintz RL,Miller OJ,Koo GC,Wachtel SS

更新日期：1979-07-01 00:00:00

abstract：:Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we per...

journal_title：American journal of human genetics

authors： Roetto A,Totaro A,Cazzola M,Cicilano M,Bosio S,D'Ascola G,Carella M,Zelante L,Kelly AL,Cox TM,Gasparini P,Camaschella C

更新日期：1999-05-01 00:00:00

abstract：:We demonstrate that satellite III (SatIII) DNA subfamilies cloned from human acrocentric chromosomes arose in the Hominoidea superfamily. Two groups, distinguished by sequence composition, evolved nonconcurrently, with group 2 evolving 16-23 million years ago (MYA) and the more recent group 1 sequences emerging approx...

journal_title：American journal of human genetics

authors： Jarmuz M,Glotzbach CD,Bailey KA,Bandyopadhyay R,Shaffer LG

更新日期：2007-03-01 00:00:00

abstract：:Many ion channel genes have been associated with human genetic pain disorders. Here we report two large Chinese families with autosomal-dominant episodic pain. We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause simila...

journal_title：American journal of human genetics

authors： Zhang XY,Wen J,Yang W,Wang C,Gao L,Zheng LH,Wang T,Ran K,Li Y,Li X,Xu M,Luo J,Feng S,Ma X,Ma H,Chai Z,Zhou Z,Yao J,Zhang X,Liu JY

更新日期：2013-11-07 00:00:00

abstract：:Stickler syndrome is a dominantly inherited disorder characterized by arthropathy, midline clefting, hearing loss, midfacial hypoplasia, myopia, and retinal detachment. These features are highly variable both between and within families. Mutations causing the disorder have been found in the COL2A1 and COL11A1 genes. P...

journal_title：American journal of human genetics

authors： Richards AJ,Baguley DM,Yates JR,Lane C,Nicol M,Harper PS,Scott JD,Snead MP

更新日期：2000-11-01 00:00:00

abstract：:Disordered mitochondrial metabolism may play an important role in a number of idiopathic neurodegenerative disorders. The question of mitochondrial dysfunction is particularly attractive in the case of idiopathic Parkinson disease (PD), since Vyas et al. recognized in the 1980s that the parkinsonism-inducing compound ...

journal_title：American journal of human genetics

authors： Parker WD Jr,Swerdlow RH

更新日期：1998-04-01 00:00:00

abstract：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

journal_title：American journal of human genetics

authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

更新日期：2006-09-01 00:00:00

abstract：:Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both...

journal_title：American journal of human genetics

authors： Royal CD,Novembre J,Fullerton SM,Goldstein DB,Long JC,Bamshad MJ,Clark AG

更新日期：2010-05-14 00:00:00

abstract：:Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmis...

journal_title：American journal of human genetics

authors： Müller B,Hedrich K,Kock N,Dragasevic N,Svetel M,Garrels J,Landt O,Nitschke M,Pramstaller PP,Reik W,Schwinger E,Sperner J,Ozelius L,Kostic V,Klein C

更新日期：2002-12-01 00:00:00