Multicentric origin of hemochromatosis gene (HFE) mutations.

abstract：:Nondisjunction in trisomy 21 has traditionally been studied by cytogenetic heteromorphisms. Those studies assumed no crossing-over on the short arm of chromosome 21. Recently, increased accuracy of detection of the origin of nondisjunction has been demonstrated by DNA polymorphism analysis. We describe a comparative s...

journal_title：American journal of human genetics

authors： Peterson MB,Frantzen M,Antonarakis SE,Warren AC,Van Broeckhoven C,Chakravarti A,Cox TK,Lund C,Olsen B,Poulsen H

更新日期：1992-09-01 00:00:00

abstract：:Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact ...

journal_title：American journal of human genetics

authors： Han S,Yang BZ,Kranzler HR,Liu X,Zhao H,Farrer LA,Boerwinkle E,Potash JB,Gelernter J

更新日期：2013-12-05 00:00:00

abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

journal_title：American journal of human genetics

authors： Ryynänen M,Knowlton RG,Uitto J

更新日期：1991-11-01 00:00:00

abstract：:Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confir...

journal_title：American journal of human genetics

authors： Ricciuti FC,Gelehrter TD,Rosenberg LE

更新日期：1976-07-01 00:00:00

abstract：:A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using...

journal_title：American journal of human genetics

authors： Terrett JA,Newbury-Ecob R,Smith NM,Li QY,Garrett C,Cox P,Bonnet D,Lyonnet S,Munnich A,Buckler AJ,Brook JD

更新日期：1996-12-01 00:00:00

abstract：:D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are c...

journal_title：American journal of human genetics

authors： Goode ME,vanTuinen P,Ledbetter DH,Daiger SP

更新日期：1986-04-01 00:00:00

abstract：:More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown...

journal_title：American journal of human genetics

authors： Sirmaci A,Erbek S,Price J,Huang M,Duman D,Cengiz FB,Bademci G,Tokgöz-Yilmaz S,Hişmi B,Ozdağ H,Oztürk B,Kulaksizoğlu S,Yildirim E,Kokotas H,Grigoriadou M,Petersen MB,Shahin H,Kanaan M,King MC,Chen ZY,Blanton SH,L

更新日期：2010-05-14 00:00:00

abstract：:ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of small blood vessels, and cancer. These clinically important manifestations have stimulated interest in defining the sequence variation in the ATM gene. Therefore, we undertook a comprehensive s...

journal_title：American journal of human genetics

authors： Thorstenson YR,Shen P,Tusher VG,Wayne TL,Davis RW,Chu G,Oefner PJ

更新日期：2001-08-01 00:00:00

abstract：:One approach frequently used for identifying genetic factors involved in the process of a complex disease is the comparison of patients and controls for a number of genetic markers near a candidate gene. The analysis of such association studies raises some specific problems because of the fact that genotypic and not g...

journal_title：American journal of human genetics

authors： Tiret L,Amouyel P,Rakotovao R,Cambien F,Ducimetière P

更新日期：1991-05-01 00:00:00

abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

journal_title：American journal of human genetics

authors： Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

更新日期：2019-07-03 00:00:00

abstract：:We recently reported a two-stage genomewide screen of 48 sib pairs affected with intracranial aneurysms (IAs) that revealed suggestive linkage to chromosome 19q13, with a LOD score of 2.58. The region supporting linkage spanned approximately 22 cM. Here, we report a follow-up study of the locus at 19q13, with a sample...

journal_title：American journal of human genetics

authors： van der Voet M,Olson JM,Kuivaniemi H,Dudek DM,Skunca M,Ronkainen A,Niemelä M,Jääskeläinen J,Hernesniemi J,Helin K,Leinonen E,Biswas M,Tromp G

更新日期：2004-03-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease (PMD) is an X-linked, dysmyelinating disorder of the CNS. Duplications of the proteolipid protein (PLP) gene have been found in a proportion of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause PMD. We show that the duplicati...

journal_title：American journal of human genetics

authors： Woodward K,Kendall E,Vetrie D,Malcolm S

更新日期：1998-07-01 00:00:00

abstract：:The definition of haplotype blocks of single-nucleotide polymorphisms (SNPs) has been proposed so that the haplotypes can be used as markers in association studies and to efficiently describe human genetic variation. The International Haplotype Map (HapMap) project to construct a comprehensive catalog of haplotypic va...

journal_title：American journal of human genetics

authors： Nothnagel M,Rohde K

更新日期：2005-12-01 00:00:00

abstract：:We tested 519 chromosome 3-specific cosmids for the presence of rare restriction-endonuclease sites in a search for cosmids containing HTF islands. We have identified 49 cosmids (9% of those tested) that contain multiple rare restriction-endonuclease sites. The cosmids were digested with several common cutting restric...

journal_title：American journal of human genetics

authors： Golembieski WA,Smith SE,Recchia F,Judge A,Shridhar V,Miller OJ,Drabkin H,Smith DI

更新日期：1991-09-01 00:00:00

abstract：:Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with ...

journal_title：American journal of human genetics

authors： Jamieson CR,Fryns JP,Jacobs J,Matthijs G,Abramowicz MJ

更新日期：2000-12-01 00:00:00

abstract：:We describe a log-linear method for analysis of case-parent-triad data, based on maximum likelihood with stratification on parental mating type. The method leads to estimates of association parameters, such as relative risks, for a single allele, and also to likelihood ratio chi2 tests (LRTs) of linkage disequilibrium...

journal_title：American journal of human genetics

authors： Weinberg CR,Wilcox AJ,Lie RT

更新日期：1998-04-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused by abnormalities in the proteolipid protein (PLP) gene, which is essential for oligodendrocyte differentiation and CNS myelin formation. Although linkage analysis has shown the homogeneity at the PLP locus in patients with PMD, exonic mut...

journal_title：American journal of human genetics

authors： Inoue K,Osaka H,Sugiyama N,Kawanishi C,Onishi H,Nezu A,Kimura K,Yamada Y,Kosaka K

更新日期：1996-07-01 00:00:00

abstract：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...

journal_title：American journal of human genetics

authors： Kammerer CM,MacCluer JW,Bridges JM

更新日期：1984-01-01 00:00:00

abstract：:Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively. A...

journal_title：American journal of human genetics

authors： Butcher DT,Cytrynbaum C,Turinsky AL,Siu MT,Inbar-Feigenberg M,Mendoza-Londono R,Chitayat D,Walker S,Machado J,Caluseriu O,Dupuis L,Grafodatskaya D,Reardon W,Gilbert-Dussardier B,Verloes A,Bilan F,Milunsky JM,Basran R,

更新日期：2017-05-04 00:00:00

abstract：:We analyzed genome-wide association studies (GWASs), including data from 71,638 individuals from four ancestries, for estimated glomerular filtration rate (eGFR), a measure of kidney function used to define chronic kidney disease (CKD). We identified 20 loci attaining genome-wide-significant evidence of association (p...

journal_title：American journal of human genetics

authors： Mahajan A,Rodan AR,Le TH,Gaulton KJ,Haessler J,Stilp AM,Kamatani Y,Zhu G,Sofer T,Puri S,Schellinger JN,Chu PL,Cechova S,van Zuydam N,SUMMIT Consortium.,BioBank Japan Project.,Arnlov J,Flessner MF,Giedraitis V,Heath

更新日期：2016-09-01 00:00:00

abstract：:Whole-genome sequencing (WGS) studies are being widely conducted in order to identify rare variants associated with human diseases and disease-related traits. Classical single-marker association analyses for rare variants have limited power, and variant-set-based analyses are commonly used by researchers for analyzing...

journal_title：American journal of human genetics

authors： Li Z,Li X,Liu Y,Shen J,Chen H,Zhou H,Morrison AC,Boerwinkle E,Lin X

更新日期：2019-05-02 00:00:00

abstract：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...

journal_title：American journal of human genetics

authors： Ganczakowski M,Town M,Bowden DK,Vulliamy TJ,Kaneko A,Clegg JB,Weatherall DJ,Luzzatto L

更新日期：1995-01-01 00:00:00

abstract：:A matched case-control study of 100 mothers of Down syndrome children, 100 mothers of children with other defects (defect controls), and 100 mothers of children with no defects (normal controls) was carried out. All infants were born in upstate New York in 1980 and 1981. Matching was very close on maternal age for the...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK

更新日期：1985-11-01 00:00:00

abstract：:Bulimia nervosa (BN) is strongly familial, and additive genetic effects appear to contribute substantially to the observed familiality. In turn, behavioral components of BN, such as self-induced vomiting, are reliably measured and heritable. To identify regions of the genome harboring genetic variants conferring susce...

journal_title：American journal of human genetics

authors： Bulik CM,Devlin B,Bacanu SA,Thornton L,Klump KL,Fichter MM,Halmi KA,Kaplan AS,Strober M,Woodside DB,Bergen AW,Ganjei JK,Crow S,Mitchell J,Rotondo A,Mauri M,Cassano G,Keel P,Berrettini WH,Kaye WH

更新日期：2003-01-01 00:00:00

abstract：:Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the othe...

journal_title：American journal of human genetics

authors： Ogilvie DJ,Wordsworth BP,Priestley LM,Dalgleish R,Schmidtke J,Zoll B,Sykes BC

更新日期：1987-12-01 00:00:00

abstract：:The distribution of HLA antigens in a sample of 124 Chagas serologically positive Chilean individuals was studied. The sample was subdivided according to the presence or absence of chagasic cardiomyopathy, in order to search for genetic differences associated with this pathological condition. The frequency of antigen ...

journal_title：American journal of human genetics

authors： Llop E,Rothhammer F,Acuña M,Apt W

更新日期：1988-11-01 00:00:00

abstract：:In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study subjects is used in the actual analysis of the trait, and much of the phenotypic data is ignored. With proper consent, these...

journal_title：American journal of human genetics

authors： Perola M,Ohman M,Hiekkalinna T,Leppävuori J,Pajukanta P,Wessman M,Koskenvuo M,Palotie A,Lange K,Kaprio J,Peltonen L

更新日期：2001-07-01 00:00:00

abstract：:The PCR technique was used to analyze the DXYS17 locus in the pseudoautosomal region of the X and the Y chromosomes. Analysis on an automated DNA sequencer allowed for sensitive and highly accurate typing of 16 different alleles with a size between 480 and 1,100 bp. Two DXYS17 alleles migrated with the same size on ag...

journal_title：American journal of human genetics

authors： Decorte R,Wu R,Marynen P,Cassiman JJ

更新日期：1994-03-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large num...

journal_title：American journal of human genetics

authors： Jansen JC,Timal S,van Scherpenzeel M,Michelakakis H,Vicogne D,Ashikov A,Moraitou M,Hoischen A,Huijben K,Steenbergen G,van den Boogert MA,Porta F,Calvo PL,Mavrikou M,Cenacchi G,van den Bogaart G,Salomon J,Holleboom AG,

更新日期：2016-02-04 00:00:00

abstract：:Accurate colorectal cancer (CRC) risk prediction models are critical for identifying individuals at low and high risk of developing CRC, as they can then be offered targeted screening and interventions to address their risks of developing disease (if they are in a high-risk group) and avoid unnecessary screening and i...

journal_title：American journal of human genetics

authors： Thomas M,Sakoda LC,Hoffmeister M,Rosenthal EA,Lee JK,van Duijnhoven FJB,Platz EA,Wu AH,Dampier CH,de la Chapelle A,Wolk A,Joshi AD,Burnett-Hartman A,Gsur A,Lindblom A,Castells A,Win AK,Namjou B,Van Guelpen B,Tangen

更新日期：2020-09-03 00:00:00