cDNA cloning and chromosomal localization (4q11-13) of a gene for statherin, a regulator of calcium in saliva.

abstract：:The study of recent natural selection in human populations has important applications to human history and medicine. Positive natural selection drives the increase in beneficial alleles and plays a role in explaining diversity across human populations. By discovering traits subject to positive selection, we can better...

journal_title：American journal of human genetics

authors： Bhatia G,Patterson N,Pasaniuc B,Zaitlen N,Genovese G,Pollack S,Mallick S,Myers S,Tandon A,Spencer C,Palmer CD,Adeyemo AA,Akylbekova EL,Cupples LA,Divers J,Fornage M,Kao WH,Lange L,Li M,Musani S,Mychaleckyj JC,Og

更新日期：2011-09-09 00:00:00

abstract：:A black family with two male infants affected with the X-linked Lowe syndrome was studied. All three females in the pedigree were found to be carriers on the basis of lenticular opacities. Each female had one son. Of these, two were affected and one was unaffected. The Xg blood-group locus and the G6PD locus were dete...

journal_title：American journal of human genetics

authors： Hittner HM,Carroll AJ,Prchal JT

更新日期：1982-11-01 00:00:00

abstract：:Nijmegen breakage syndrome (NBS; Seemanová II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not cli...

journal_title：American journal of human genetics

authors： Saar K,Chrzanowska KH,Stumm M,Jung M,Nürnberg G,Wienker TF,Seemanová E,Wegner RD,Reis A,Sperling K

更新日期：1997-03-01 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：:We report the transmission of HLA haplotypes and Gm allotypes in 97 members of a single kindred containing 257 individuals, 45 of whom were determined by clinical examination, autopsy, or historical data to have had Alzheimer disease (AD). Extensive inbreeding suggests that more than one gene may contribute to suscept...

journal_title：American journal of human genetics

authors： Weitkamp LR,Nee L,Keats B,Polinsky RJ,Guttormsen S

更新日期：1983-05-01 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：:Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonpa...

journal_title：American journal of human genetics

authors： Laval SH,Timms A,Edwards S,Bradbury L,Brophy S,Milicic A,Rubin L,Siminovitch KA,Weeks DE,Calin A,Wordsworth BP,Brown MA

更新日期：2001-04-01 00:00:00

abstract：:The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biolog...

journal_title：American journal of human genetics

authors： Ashton GC

更新日期：1980-07-01 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 report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (A...

journal_title：American journal of human genetics

authors： Slavotinek A,Kaylor J,Pierce H,Cahr M,DeWard SJ,Schneidman-Duhovny D,Alsadah A,Salem F,Schmajuk G,Mehta L

更新日期：2015-01-08 00:00:00

abstract：:Proteoglycans are a major component of extracellular matrix and contribute to normal embryonic and postnatal development by ensuring tissue stability and signaling functions. We studied five patients with recessive joint dislocations and congenital heart defects, including bicuspid aortic valve (BAV) and aortic root d...

journal_title：American journal of human genetics

authors： Baasanjav S,Al-Gazali L,Hashiguchi T,Mizumoto S,Fischer B,Horn D,Seelow D,Ali BR,Aziz SA,Langer R,Saleh AA,Becker C,Nürnberg G,Cantagrel V,Gleeson JG,Gomez D,Michel JB,Stricker S,Lindner TH,Nürnberg P,Sugahara K,

更新日期：2011-07-15 00:00:00

abstract：:We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) o...

journal_title：American journal of human genetics

authors： Tambor ES,Bernhardt BA,Chase GA,Faden RR,Geller G,Hofman KJ,Holtzman NA

更新日期：1994-10-01 00:00:00

abstract：:A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide sc...

journal_title：American journal of human genetics

authors： Hauser ER,Crossman DC,Granger CB,Haines JL,Jones CJ,Mooser V,McAdam B,Winkelmann BR,Wiseman AH,Muhlestein JB,Bartel AG,Dennis CA,Dowdy E,Estabrooks S,Eggleston K,Francis S,Roche K,Clevenger PW,Huang L,Pedersen B,S

更新日期：2004-09-01 00:00:00

abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...

journal_title：American journal of human genetics

authors： Dougherty MJ

更新日期：2009-07-01 00:00:00

abstract：:Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this maternally inherited disease....

journal_title：American journal of human genetics

authors： Johns DR,Neufeld MJ

更新日期：1993-10-01 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：: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：:Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. ...

journal_title：American journal of human genetics

authors： Di Donato N,Jean YY,Maga AM,Krewson BD,Shupp AB,Avrutsky MI,Roy A,Collins S,Olds C,Willert RA,Czaja AM,Johnson R,Stover JA,Gottlieb S,Bartholdi D,Rauch A,Goldstein A,Boyd-Kyle V,Aldinger KA,Mirzaa GM,Nissen A,Br

更新日期：2016-11-03 00:00:00

abstract：:Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of thre...

journal_title：American journal of human genetics

authors： Board PG,Chapple R,Coggan M

更新日期：1988-05-01 00:00:00

abstract：:A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded...

journal_title：American journal of human genetics

authors： Daly RF,Patau K,Therman E,Sarto GE

更新日期：1977-01-01 00:00:00

abstract：:Recent advances in genome technology have led to mapping and subsequent isolation, by positional cloning, of a number of genes for common and/or complex human diseases. It therefore will be possible to utilize information about a known locus in the search for additional, perhaps less penetrant, genes for a particular ...

journal_title：American journal of human genetics

authors： Goldgar DE,Easton DF

更新日期：1997-05-01 00:00:00

abstract：:The practicality and moral value of community review of human genetic research has become a focus of debate. Examples from two Native American communities are used to address four aspects of that debate: (1) the value of community review in larger, geographically dispersed populations; (2) the identification of cultur...

journal_title：American journal of human genetics

authors： Foster MW,Sharp RR,Freeman WL,Chino M,Bernsten D,Carter TH

更新日期：1999-06-01 00:00:00

abstract：:A genetical model is found to provide a good fit to family data on vitiligo. The model postulates that recessive alleles at a set of four unlinked diallelic loci are involved in the causation of the disorder. Under this multiple recessive homozygosis model, for normal X affected families ascertained through the affect...

journal_title：American journal of human genetics

authors： Majumder PP,Das SK,Li CC

更新日期：1988-08-01 00:00:00

abstract：:Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping an...

journal_title：American journal of human genetics

authors： Schossig A,Wolf NI,Fischer C,Fischer M,Stocker G,Pabinger S,Dander A,Steiner B,Tönz O,Kotzot D,Haberlandt E,Amberger A,Burwinkel B,Wimmer K,Fauth C,Grond-Ginsbach C,Koch MJ,Deichmann A,von Kalle C,Bartram CR,Kohls

更新日期：2012-04-06 00:00:00

abstract：:A rare germ-line polymorphism in codon 47 of the p53 gene replaces the wild-type proline (CCG) with a serine (TCG). Restriction analysis of 101 human samples revealed the frequency of the rare allele to be 0% (n = 69) in Caucasians and 4.7% (3/64, n = 32) among African-Americans. To investigate the consequence of this...

journal_title：American journal of human genetics

authors： Felley-Bosco E,Weston A,Cawley HM,Bennett WP,Harris CC

更新日期：1993-09-01 00:00:00

abstract：:Our previous studies have revealed a higher frequency of nonpolymorphic electrophoretic variants in blood samples from Amerindians than in similar samples from Caucasians and Japanese. Our present study finds, by contrast, that the frequency of deficiency variants of 11 erythrocyte enzymes, sampled in nine Amerindian ...

journal_title：American journal of human genetics

authors： Mohrenweiser HW,Neel JV

更新日期：1984-05-01 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：:Estimation of the components of variance for a quantitative trait allows one to evaluate both the degree to which genetics influences the trait and the trait's underlying genetic architecture. For particular traits, the estimates also may have implications for discriminating between potential models of selection and f...

journal_title：American journal of human genetics

authors： Abney M,McPeek MS,Ober C

更新日期：2001-05-01 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：:The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit st...

journal_title：American journal of human genetics

authors： Slipetz DM,Goodyer PR,Rozen R

更新日期：1991-06-01 00:00:00