Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.

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：: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：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

journal_title：American journal of human genetics

authors： Rich SS,Weitkamp LR,Barbosa J

更新日期：1984-09-01 00:00:00

abstract：:Dopamine-beta-hydroxylase (D beta H) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-D beta H activity varies widely between individuals, and a subgroup of the population has very low activity levels. Mounting evidence suggests that the DBH s...

journal_title：American journal of human genetics

authors： Zabetian CP,Anderson GM,Buxbaum SG,Elston RC,Ichinose H,Nagatsu T,Kim KS,Kim CH,Malison RT,Gelernter J,Cubells JF

更新日期：2001-02-01 00:00:00

abstract：:The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapping developmental anomalies, and who all have de novo missense FBXW11...

journal_title：American journal of human genetics

authors： Holt RJ,Young RM,Crespo B,Ceroni F,Curry CJ,Bellacchio E,Bax DA,Ciolfi A,Simon M,Fagerberg CR,van Binsbergen E,De Luca A,Memo L,Dobyns WB,Mohammed AA,Clokie SJH,Zazo Seco C,Jiang YH,Sørensen KP,Andersen H,Sullivan

更新日期：2019-09-05 00:00:00

abstract：:It has been proposed that gluten sensitive enteropathy (GSE) results from the interaction of two loci: one locus linked to HLA and associated with dominant inheritance, and the other, a non-HLA-linked GSE-associated B-cell alloantigen, exhibiting recessive inheritance. We have shown in previous analyses that a two-loc...

journal_title：American journal of human genetics

authors： Greenberg DA,Hodge SE,Rotter JI

更新日期：1982-03-01 00:00:00

abstract：:Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to ch...

journal_title：American journal of human genetics

authors： Shapira SK,McCaskill C,Northrup H,Spikes AS,Elder FF,Sutton VR,Korenberg JR,Greenberg F,Shaffer LG

更新日期：1997-09-01 00:00:00

abstract：:One widely used measure of genetic similarity for pairs of relatives is gene identity-by-descent (IBD) sharing. Genes that are copies of a single gene in a common ancestor of the individuals who now carry them are said to be IBD. One obvious extension of the IBD concept is IBD gene(s) shared by more than two individua...

journal_title：American journal of human genetics

authors： Guo SW

更新日期：1995-06-01 00:00:00

abstract：:We obtained conclusive linkage of Alzheimer disease (AD) with a candidate region of 19.7 cM at 7q36 in an extended multiplex family, family 1270, ascertained in a population-based study of early-onset AD in the northern Netherlands. Single-nucleotide polymorphism and haplotype association analyses of a Dutch patient-c...

journal_title：American journal of human genetics

authors： Rademakers R,Cruts M,Sleegers K,Dermaut B,Theuns J,Aulchenko Y,Weckx S,De Pooter T,Van den Broeck M,Corsmit E,De Rijk P,Del-Favero J,van Swieten J,van Duijn CM,Van Broeckhoven C

更新日期：2005-10-01 00:00:00

abstract：:A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases wer...

journal_title：American journal of human genetics

authors： Freire-Maia A,Freire-Maia N,Morton NE,Azevêdo ES,Quelce-Salgado A

更新日期：1975-07-01 00:00:00

abstract：:The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...

journal_title：American journal of human genetics

authors： McDermid HE,Morrow BE

更新日期：2002-05-01 00:00:00

abstract：:Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to e...

journal_title：American journal of human genetics

authors： Mavaddat N,Michailidou K,Dennis J,Lush M,Fachal L,Lee A,Tyrer JP,Chen TH,Wang Q,Bolla MK,Yang X,Adank MA,Ahearn T,Aittomäki K,Allen J,Andrulis IL,Anton-Culver H,Antonenkova NN,Arndt V,Aronson KJ,Auer PL,Auvinen

更新日期：2019-01-03 00:00:00

abstract：:Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozy...

journal_title：American journal of human genetics

authors： Lacombe A,Lee H,Zahed L,Choucair M,Muller JM,Nelson SF,Salameh W,Vilain E

更新日期：2006-07-01 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：:To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, we determined allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene. The loci are highly polymorphic, with predicted het...

journal_title：American journal of human genetics

authors： Clemens PR,Fenwick RG,Chamberlain JS,Gibbs RA,de Andrade M,Chakraborty R,Caskey CT

更新日期：1991-11-01 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：:X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 a...

journal_title：American journal of human genetics

authors： Breuer DK,Yashar BM,Filippova E,Hiriyanna S,Lyons RH,Mears AJ,Asaye B,Acar C,Vervoort R,Wright AF,Musarella MA,Wheeler P,MacDonald I,Iannaccone A,Birch D,Hoffman DR,Fishman GA,Heckenlively JR,Jacobson SG,Sieving PA

更新日期：2002-06-01 00:00:00

abstract：:Mutations in the progressive ankylosis gene (Ank/ANKH) cause surprisingly different skeletal phenotypes in mice and humans. In mice, recessive loss-of-function mutations cause arthritis, ectopic crystal formation, and joint fusion throughout the body. In humans, some dominant mutations cause chondrocalcinosis, an adul...

journal_title：American journal of human genetics

authors： Gurley KA,Reimer RJ,Kingsley DM

更新日期：2006-12-01 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：:The highly polymorphic locus D2S3 is revealed by three single-copy probes from cosmid C1-5. These probes, 1-30, 1-32, and 2-96, collectively reveal seven restriction fragment length polymorphisms. Fifty-three of 56 unrelated individuals (93%) were heterozygous at one or more of the seven loci, making the compound locu...

journal_title：American journal of human genetics

authors： Litt M,Bruns GA,Sheehy R,Magenis RE

更新日期：1986-03-01 00:00:00

abstract：:Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we hav...

journal_title：American journal of human genetics

authors： Ptacek LJ,Tyler F,Trimmer JS,Agnew WS,Leppert M

更新日期：1991-08-01 00:00:00

abstract：:Regional chromosomal mosaicism has been found in tissue from the clitoral mass of an infant presenting with ambiguous genitalia. Chromosome analysis of skin from the clitoral mass was interpreted as 46,XX/52,XX, +2, +7, +8, +12, +13, +20, whereas study of ovarian tissue and peripheral lymphocytes found each to have no...

journal_title：American journal of human genetics

authors： Seely JR,Seely BL,Bley R Jr,Altmiller CJ

更新日期：1984-07-01 00:00:00

abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

journal_title：American journal of human genetics

authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

更新日期：2000-06-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive con...

journal_title：American journal of human genetics

authors： Zhou J,Tawk M,Tiziano FD,Veillet J,Bayes M,Nolent F,Garcia V,Servidei S,Bertini E,Castro-Giner F,Renda Y,Carpentier S,Andrieu-Abadie N,Gut I,Levade T,Topaloglu H,Melki J

更新日期：2012-07-13 00:00:00

abstract：:The first 14 exons of the APC gene have been screened by the denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. Four polymorphic variants corresponding to silent mutations not associated with the disease phenotype were observed. Mutations...

journal_title：American journal of human genetics

authors： Olschwang S,Laurent-Puig P,Groden J,White R,Thomas G

更新日期：1993-02-01 00:00:00

abstract：:An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

journal_title：American journal of human genetics

authors： Spady TC,Ostrander EA

更新日期：2008-01-01 00:00:00

abstract：:Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent. We therefore determined sequence variation across the major relevant parts of VDR, including construction o...

journal_title：American journal of human genetics

authors： Fang Y,van Meurs JB,d'Alesio A,Jhamai M,Zhao H,Rivadeneira F,Hofman A,van Leeuwen JP,Jehan F,Pols HA,Uitterlinden AG

更新日期：2005-11-01 00:00:00

abstract：:Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and focal neurological deficits due to cerebral hemorrhages. CCM loci have already been assigned to chromosomes 7q (CCM1), 7p...

journal_title：American journal of human genetics

authors： Denier C,Goutagny S,Labauge P,Krivosic V,Arnoult M,Cousin A,Benabid AL,Comoy J,Frerebeau P,Gilbert B,Houtteville JP,Jan M,Lapierre F,Loiseau H,Menei P,Mercier P,Moreau JJ,Nivelon-Chevallier A,Parker F,Redondo AM,S

更新日期：2004-02-01 00:00:00

abstract：:Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of G...

journal_title：American journal of human genetics

authors： Matthijs G,Schollen E,Van Schaftingen E,Cassiman JJ,Jaeken J

更新日期：1998-03-01 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