Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

abstract：:A total of 752 individuals from The Gambia, west Africa who are representative of the major ethnic groups in the capital, Banjul, were serologically typed for HLA-A, -B, and -C antigens. Although all were typically "African" in their antigenic profiles, some marked frequency differences were found between the ethnic g...

journal_title：American journal of human genetics

authors： Allsopp CE,Harding RM,Taylor C,Bunce M,Kwiatkowski D,Anstey N,Brewster D,McMichael AJ,Greenwood BM,Hill AV

更新日期：1992-02-01 00:00:00

abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

journal_title：American journal of human genetics

authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

更新日期：2018-02-01 00:00:00

abstract：:Most sporadic cases of retinoblastoma, malignant eye tumor of children, may require the identification of a mutation of the retinoblastoma gene (RB1 gene) for precise genetic counseling. We established a mutation detection system of and screened for the RB1 gene mutation in 24 patients with retinoblastoma--12 bilatera...

journal_title：American journal of human genetics

authors： Shimizu T,Toguchida J,Kato MV,Kaneko A,Ishizaki K,Sasaki MS

更新日期：1994-05-01 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：:Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-...

journal_title：American journal of human genetics

authors： Huyghe JR,Van Laer L,Hendrickx JJ,Fransen E,Demeester K,Topsakal V,Kunst S,Manninen M,Jensen M,Bonaconsa A,Mazzoli M,Baur M,Hannula S,Mäki-Torkko E,Espeso A,Van Eyken E,Flaquer A,Becker C,Stephens D,Sorri M,Orzan

更新日期：2008-09-01 00:00:00

abstract：:The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysopho...

journal_title：American journal of human genetics

authors： Johansen A,Rosti RO,Musaev D,Sticca E,Harripaul R,Zaki M,Çağlayan AO,Azam M,Sultan T,Froukh T,Reis A,Popp B,Ahmed I,John P,Ayub M,Ben-Omran T,Vincent JB,Gleeson JG,Abou Jamra R

更新日期：2016-10-06 00:00:00

abstract：:To detect heterozygotes for maple-syrup-urine disease (MSUD), activities of branched-chain-alpha-ketoacid (BCKA) dehydrogenase and its components in skin fibroblasts of two obligatory heterozygotes and amnion cells of a fetus at risk were measured. Intact heterozygous cells were found to decarboxylate [1-14C] alpha-ke...

journal_title：American journal of human genetics

authors： Chuang DT,Ku LS,Kerr DS,Cox RP

更新日期：1982-05-01 00:00:00

abstract：:The genomic sequences recognized by the anonymous probe 767 (DXS115) are localized to two sites within Xq28. One site lies within intron 22 of the factor VIII gene (FBC). Physical mapping suggests that the second site lies within 1.2 megabases of the F8C gene. The RFLPs detected by 767 are located within the second si...

journal_title：American journal of human genetics

authors： Patterson M,Gitschier J,Bloomfield J,Bell M,Dorkins H,Froster-Iskenius U,Sommer S,Sobell J,Schaid D,Thibodeau S

更新日期：1989-05-01 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：:Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310 [...

journal_title：American journal of human genetics

authors： Briggs MD,Mortier GR,Cole WG,King LM,Golik SS,Bonaventure J,Nuytinck L,De Paepe A,Leroy JG,Biesecker L,Lipson M,Wilcox WR,Lachman RS,Rimoin DL,Knowlton RG,Cohn DH

更新日期：1998-02-01 00:00:00

abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mut...

journal_title：American journal of human genetics

authors： Edwards SJ,Gladwin AJ,Dixon MJ

更新日期：1997-03-01 00:00:00

abstract：:A subset of nuclear-encoded RNAs has to be imported into mitochondria for the proper replication and transcription of the mitochondrial genome and, hence, for proper mitochondrial function. Polynucleotide phosphorylase (PNPase or PNPT1) is one of the very few components known to be involved in this poorly characterize...

journal_title：American journal of human genetics

authors： von Ameln S,Wang G,Boulouiz R,Rutherford MA,Smith GM,Li Y,Pogoda HM,Nürnberg G,Stiller B,Volk AE,Borck G,Hong JS,Goodyear RJ,Abidi O,Nürnberg P,Hofmann K,Richardson GP,Hammerschmidt M,Moser T,Wollnik B,Koehler CM

更新日期：2012-11-02 00:00:00

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：:Helicobacter pylori is considered the most prevalent infectious agent among humans, and it causes gastric inflammation, gastroduodenal ulcers, and a risk of gastric cancer. We performed a genomewide linkage analysis among Senegalese siblings phenotyped for H. pylori-reactive serum immunoglobulin G. A multipoint LOD sc...

journal_title：American journal of human genetics

authors： Thye T,Burchard GD,Nilius M,Müller-Myhsok B,Horstmann RD

更新日期：2003-02-01 00:00:00

abstract：:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage an...

journal_title：American journal of human genetics

authors： Stevanin G,Le Guern E,Ravisé N,Chneiweiss H,Dürr A,Cancel G,Vignal A,Boch AL,Ruberg M,Penet C

更新日期：1994-01-01 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：:We describe a family with a novel disorder characterized by episodic muscle weakness and X-linked inheritance. Eight males in three generations demonstrate the characteristic features of the disorder. Episodes of severe muscle weakness are typically precipitated by febrile illness and affect the facial and extraocular...

journal_title：American journal of human genetics

authors： Ryan MM,Taylor P,Donald JA,Ouvrier RA,Morgan G,Danta G,Buckley MF,North KN

更新日期：1999-10-01 00:00:00

abstract：:We explored the biochemical basis for the disorder pseudohypophosphatasia (PsHYPT) in one patient by examining the substrate specificity and localization of alkaline phosphatase (ALP) in cultured dermal fibroblasts. Despite substantial ALP activity, in cell homogenates, toward the artificial substrate 4-methyl-umbelli...

journal_title：American journal of human genetics

authors： Fedde KN,Cole DE,Whyte MP

更新日期：1990-11-01 00:00:00

abstract：:Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. A...

journal_title：American journal of human genetics

authors： Lefranc G,Rivat L,Rivat C,Loiselet J,Ropartz C

更新日期：1976-01-01 00:00:00

abstract：:This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-n...

journal_title：American journal of human genetics

authors： Elson JL,Turnbull DM,Howell N

更新日期：2004-02-01 00:00:00

abstract：:Loss-of-heterozygosity (LOH) studies have implicated one or more chromosome 11 tumor-suppressor gene(s) in the development of cutaneous melanoma as well as a variety of other forms of human cancer. In the present study, we have identified multiple independent critical regions on this chromosome by use of homozygosity ...

journal_title：American journal of human genetics

authors： Goldberg EK,Glendening JM,Karanjawala Z,Sridhar A,Walker GJ,Hayward NK,Rice AJ,Kurera D,Tebha Y,Fountain JW

更新日期：2000-08-01 00:00:00

abstract：:Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb ...

journal_title：American journal of human genetics

authors： Riva P,Corrado L,Natacci F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza L

更新日期：2000-01-01 00:00:00

abstract：:The lymphatic vasculature is essential for the recirculation of extracellular fluid, fat absorption, and immune function and as a route of tumor metastasis. The dissection of molecular mechanisms underlying lymphangiogenesis has been accelerated by the identification of tissue-specific lymphatic endothelial markers an...

journal_title：American journal of human genetics

authors： Au AC,Hernandez PA,Lieber E,Nadroo AM,Shen YM,Kelley KA,Gelb BD,Diaz GA

更新日期：2010-09-10 00:00:00

abstract：:Both sequence variation and copy-number variation (CNV) of the genes encoding receptors for immunoglobulin G (Fcγ receptors) have been genetically and functionally associated with a number of autoimmune diseases. However, the molecular nature and evolutionary context of this variation is unknown. Here, we describe the...

journal_title：American journal of human genetics

authors： Machado LR,Hardwick RJ,Bowdrey J,Bogle H,Knowles TJ,Sironi M,Hollox EJ

更新日期：2012-06-08 00:00:00

abstract：:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the ef...

journal_title：American journal of human genetics

authors： Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

更新日期：1995-04-01 00:00:00

abstract：:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tes...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra A

更新日期：1991-03-01 00:00:00

abstract：:The alkaline phosphatases comprise a multigene enzyme family that hydolyze phosphate esters and are widely distributed in nature. Three main classes have been isolated from humans, the placental, intestinal, and liver/bone/kidney forms. We have mapped the placental and intestinal alkaline phosphatase genes to 2q34-q37...

journal_title：American journal of human genetics

authors： Griffin CA,Smith M,Henthorn PS,Harris H,Weiss MJ,Raducha M,Emanuel BS

更新日期：1987-12-01 00:00:00

abstract：:About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...

journal_title：American journal of human genetics

authors： Passarino G,Semino O,Bernini LF,Santachiara-Benerecetti AS

更新日期：1996-10-01 00:00:00

abstract：:Understanding the nature of the genetic regulation of gene expression promises to advance our understanding of the genetic basis of disease. However, the methodological impact of the use of local ancestry on high-dimensional omics analyses, including, most prominently, expression quantitative trait loci (eQTL) mapping...

journal_title：American journal of human genetics

authors： Zhong Y,Perera MA,Gamazon ER

更新日期：2019-06-06 00:00:00

abstract：:We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectivenes...

journal_title：American journal of human genetics

authors： Pearson JV,Huentelman MJ,Halperin RF,Tembe WD,Melquist S,Homer N,Brun M,Szelinger S,Coon KD,Zismann VL,Webster JA,Beach T,Sando SB,Aasly JO,Heun R,Jessen F,Kolsch H,Tsolaki M,Daniilidou M,Reiman EM,Papassotiropoul

更新日期：2007-01-01 00:00:00