Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p.

abstract：:Misspecification of transmission model parameters can produce artifactually negative lod scores at small recombination fractions and in multipoint analysis. To avoid this problem, we have tried to devise a test that aims to detect a genetic effect at a particular locus, rather than attempting to estimate the map posit...

journal_title：American journal of human genetics

authors： Curtis D,Sham PC

更新日期：1995-09-01 00:00:00

abstract：:The genetics of African North Americans are complex amalgamations of various West and Central African peoples with modest gene flow from specific European and Amerindian peoples. A comprehensive understanding of African North American biohistory is a prerequisite for accurate interpretations of the ancestral genetics ...

journal_title：American journal of human genetics

authors： Jackson FLC

更新日期：2021-01-07 00:00:00

abstract：:Numerous case series have addressed the concern that cancer therapy may damage germ cells, leading to clinical disease in offspring of survivors. None has documented an increased risk. However, the methodological problems of small series make it difficult to draw firm conclusions regarding the potential of cancer trea...

journal_title：American journal of human genetics

authors： Byrne J,Rasmussen SA,Steinhorn SC,Connelly RR,Myers MH,Lynch CF,Flannery J,Austin DF,Holmes FF,Holmes GE,Strong LC,Mulvihill JJ

更新日期：1998-01-01 00:00:00

abstract：:Historical and genetic evidences suggest that the recently founded population of Antioquia (Colombia) is potentially useful for the genetic mapping of complex traits. This population was established in the 16th-17th centuries through the admixture of Amerinds, Europeans, and Africans and grew in relative isolation unt...

journal_title：American journal of human genetics

authors： Carvajal-Carmona LG,Soto ID,Pineda N,Ortíz-Barrientos D,Duque C,Ospina-Duque J,McCarthy M,Montoya P,Alvarez VM,Bedoya G,Ruiz-Linares A

更新日期：2000-11-01 00:00:00

abstract：:Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results o...

journal_title：American journal of human genetics

authors： Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

更新日期：2001-01-01 00:00:00

abstract：:Subcutaneous adipose tissue stores excess lipids and maintains energy balance. We performed expression quantitative trait locus (eQTL) analyses by using abdominal subcutaneous adipose tissue of 770 extensively phenotyped participants of the METSIM study. We identified cis-eQTLs for 12,400 genes at a 1% false-discovery...

journal_title：American journal of human genetics

authors： Civelek M,Wu Y,Pan C,Raulerson CK,Ko A,He A,Tilford C,Saleem NK,Stančáková A,Scott LJ,Fuchsberger C,Stringham HM,Jackson AU,Narisu N,Chines PS,Small KS,Kuusisto J,Parks BW,Pajukanta P,Kirchgessner T,Collins FS,G

更新日期：2017-03-02 00:00:00

abstract：:False-positive or false-negative results attributable to undetected genotyping errors and confounding factors present a constant challenge for genome-wide association studies (GWAS) given the low signals associated with complex phenotypes and the noise associated with high-throughput genotyping. In the context of the ...

journal_title：American journal of human genetics

authors： Pluzhnikov A,Below JE,Konkashbaev A,Tikhomirov A,Kistner-Griffin E,Roe CA,Nicolae DL,Cox NJ

更新日期：2010-07-09 00:00:00

abstract：:The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both t...

journal_title：American journal of human genetics

authors： Biancalana V,Taine L,Bouix JC,Finck S,Chauvin A,De Verneuil H,Knight SJ,Stoll C,Lacombe D,Mandel JL

更新日期：1996-10-01 00:00:00

abstract：:We have shown functional complementation of a genetic deficiency in human cultured cells, using artificial chromosomes derived from cloned human genomic fragments. A 404-kb human-artificial-chromosome (HAC) vector, consisting of 220 kb of alphoid DNA from the centromere of chromosome 17, human telomeres, and the hypox...

journal_title：American journal of human genetics

authors： Mejía JE,Willmott A,Levy E,Earnshaw WC,Larin Z

更新日期：2001-08-01 00:00:00

abstract：:Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibil...

journal_title：American journal of human genetics

authors： Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes V

更新日期：1996-05-01 00:00:00

abstract：:Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A g...

journal_title：American journal of human genetics

authors： Roume J,Genin E,Cormier-Daire V,Ma HW,Mehaye B,Attie T,Razavi-Encha F,Fallet-Bianco C,Buenerd A,Clerget-Darpoux F,Munnich A,Le Merrer M

更新日期：1998-10-01 00:00:00

abstract：:Intracytoplasmic sperm injection (ICSI) has been used in combination with testicular sperm extraction to achieve pregnancies in couples with severe male-factor infertility, yet many of the underlying genetic mechanisms remain largely unknown. To investigate nondisjunction in mitotic and meiotic germ cells, we performe...

journal_title：American journal of human genetics

authors： Huang WJ,Lamb DJ,Kim ED,de Lara J,Lin WW,Lipshultz LI,Bischoff FZ

更新日期：1999-06-01 00:00:00

abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

journal_title：American journal of human genetics

authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

更新日期：2007-04-01 00:00:00

abstract：:To define Y-chromosome haplotypes, we studied seven biallelic polymorphic sites. We combined data with those from four dinucleotide-repeat polymorphisms, to establish Y-chromosome compound superhaplotypes. Eight biallelic haplotypes that matched the dendrogram proposed by other investigators were identified in 762 Y c...

journal_title：American journal of human genetics

authors： Scozzari R,Cruciani F,Santolamazza P,Malaspina P,Torroni A,Sellitto D,Arredi B,Destro-Bisol G,De Stefano G,Rickards O,Martinez-Labarga C,Modiano D,Biondi G,Moral P,Olckers A,Wallace DC,Novelletto A

更新日期：1999-09-01 00:00:00

abstract：:Carotid intimal medial thickness (IMT) is a heritable quantitative measure of atherosclerosis. A genomewide linkage analysis was conducted to localize a quantitative-trait locus (QTL) influencing carotid IMT. Carotid IMT was measured in 596 men and 629 women from 311 extended families (1,242 sib pairs) in the Framingh...

journal_title：American journal of human genetics

authors： Fox CS,Cupples LA,Chazaro I,Polak JF,Wolf PA,D'Agostino RB,Ordovas JM,O'Donnell CJ

更新日期：2004-02-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia...

journal_title：American journal of human genetics

authors： Fantes JA,Bickmore WA,Fletcher JM,Ballesta F,Hanson IM,van Heyningen V

更新日期：1992-12-01 00:00:00

abstract：:Admixture mapping requires a genomewide panel of relatively evenly spaced markers that can distinguish the ancestral origins of chromosomal segments in admixed individuals. Through use of the results of the International HapMap Project and specific selection criteria, the current study has examined the ability of sele...

journal_title：American journal of human genetics

authors： Tian C,Hinds DA,Shigeta R,Kittles R,Ballinger DG,Seldin MF

更新日期：2006-10-01 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：:A chromosome in an individual of recently admixed ancestry resembles a mosaic of chromosomal segments, or ancestry blocks, each derived from a particular ancestral population. We consider the problem of inferring ancestry along the chromosomes in an admixed individual and thereby delineating the ancestry blocks. Using...

journal_title：American journal of human genetics

authors： Tang H,Coram M,Wang P,Zhu X,Risch N

更新日期：2006-07-01 00:00:00

abstract：:Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are...

journal_title：American journal of human genetics

authors： Rochette J,Pointon JJ,Fisher CA,Perera G,Arambepola M,Arichchi DS,De Silva S,Vandwalle JL,Monti JP,Old JM,Merryweather-Clarke AT,Weatherall DJ,Robson KJ

更新日期：1999-04-01 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：:Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. Mutations were observed in 10 patients, and in each case a different mutation was present. All of the mutations would...

journal_title：American journal of human genetics

authors： Das S,Levinson B,Whitney S,Vulpe C,Packman S,Gitschier J

更新日期：1994-11-01 00:00:00

abstract：:Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that is often encountered in both population-based and family-based GWASs is that of identifying cryptic relatedness and population stratification because it is well known that failure to ...

journal_title：American journal of human genetics

authors： Thornton T,Tang H,Hoffmann TJ,Ochs-Balcom HM,Caan BJ,Risch N

更新日期：2012-07-13 00:00:00

abstract：:Miller-Dieker syndrome (MDS), a disorder manifesting the severe brain malformation lissencephaly ("smooth brain"), is caused, in the majority of cases, by a chromosomal microdeletion of the distal short arm of chromosome 17. Using human chromosome 17-specific DNA probes, we have begun a molecular dissection of the cri...

journal_title：American journal of human genetics

authors： vanTuinen P,Dobyns WB,Rich DC,Summers KM,Robinson TJ,Nakamura Y,Ledbetter DH

更新日期：1988-11-01 00:00:00

abstract：:Serum and leukocyte hexosaminidase profiles (total activity and percent heat-labile activity levels) in obligate Sandhoff disease (SHD) heterozygotes differ from those of obligate Tay-Sachs disease (TSD) heterozygotes and noncarrier individuals. We have developed a procedure to identify, with 95% sensitivity, carriers...

journal_title：American journal of human genetics

authors： Cantor RM,Lim JS,Roy C,Kaback MM

更新日期：1985-09-01 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：:A genetic approach is used to ascertain that a single structural locus for triosephosphate isomerase (TPI) (E.C.5.3.1.1.) is expressed in rapidly dividing human lymphoblasts. This approach is made possible through the identification of a rare electrophoretic variant of human TPI. The variant phenotype is expressed by ...

journal_title：American journal of human genetics

authors： Decker RS,Mohrenweiser HW

更新日期：1981-09-01 00:00:00

abstract：:The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through a mechanism involving excessive stress-granule formation, or developmental defects, through mech...

journal_title：American journal of human genetics

authors： Duijkers FA,McDonald A,Janssens GE,Lezzerini M,Jongejan A,van Koningsbruggen S,Leeuwenburgh-Pronk WG,Wlodarski MW,Moutton S,Tran-Mau-Them F,Thauvin-Robinet C,Faivre L,Monaghan KG,Smol T,Boute-Benejean O,Ladda RL,Sell SL,

更新日期：2019-06-06 00:00:00

abstract：:Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...

journal_title：American journal of human genetics

authors： Martin ER,Monks SA,Warren LL,Kaplan NL

更新日期：2000-07-01 00:00:00

abstract：:Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease. SSCP analyses were designed for thes...

journal_title：American journal of human genetics

authors： Greer WL,Dobson MJ,Girouard GS,Byers DM,Riddell DC,Neumann PE

更新日期：1999-11-01 00:00:00