Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

abstract：:Experiments designed to illuminate the mechanism by which folic acid and thymidine inhibit expression of the Xq28 fragile site in human lymphocytes are described. The fragile site is induced by 5-fluorodeoxyuridine (FUdR), a potent inhibitor of thymidylate synthetase, in the presence of otherwise inhibiting concentrat...

journal_title：American journal of human genetics

authors： Glover TW

更新日期：1981-03-01 00:00:00

abstract：:X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), w...

journal_title：American journal of human genetics

authors： Kalscheuer VM,Tao J,Donnelly A,Hollway G,Schwinger E,Kübart S,Menzel C,Hoeltzenbein M,Tommerup N,Eyre H,Harbord M,Haan E,Sutherland GR,Ropers HH,Gécz J

更新日期：2003-06-01 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：:Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and ...

journal_title：American journal of human genetics

authors： Simard L,O'Brien WE,McInnes RR

更新日期：1986-07-01 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：:The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinct genetic entity, with clinical presentation similar to that of other...

journal_title：American journal of human genetics

authors： Siintola E,Topcu M,Aula N,Lohi H,Minassian BA,Paterson AD,Liu XQ,Wilson C,Lahtinen U,Anttonen AK,Lehesjoki AE

更新日期：2007-07-01 00:00:00

abstract：:Ten cases of small ring chromosomes which did not stain with distamycinA/DAPI and did not possess satellite regions associated with nucleolus-organizing regions are described. In situ hybridization with a battery of biotinylated pericentric repeat probes specific either for individual chromosomes or for groups of chro...

journal_title：American journal of human genetics

authors： Callen DF,Eyre HJ,Ringenbergs ML,Freemantle CJ,Woodroffe P,Haan EA

更新日期：1991-04-01 00:00:00

abstract：:Admixture mapping (also known as "mapping by admixture linkage disequilibrium," or MALD) provides a way of localizing genes that cause disease, in admixed ethnic groups such as African Americans, with approximately 100 times fewer markers than are required for whole-genome haplotype scans. However, it has not been pos...

journal_title：American journal of human genetics

authors： Smith MW,Patterson N,Lautenberger JA,Truelove AL,McDonald GJ,Waliszewska A,Kessing BD,Malasky MJ,Scafe C,Le E,De Jager PL,Mignault AA,Yi Z,De The G,Essex M,Sankale JL,Moore JH,Poku K,Phair JP,Goedert JJ,Vlahov D,

更新日期：2004-05-01 00:00:00

abstract：:The gamete-competition model is an application of the Bradley-Terry model for ranking of sports teams. If allele i of a marker locus is assigned parameter taui>0, then the probability that a parent with heterozygous genotype i/j transmits allele i is Pr(i/j-->)=tau(i)/(tau(i) + tau(j). Mendelian segregation correspond...

journal_title：American journal of human genetics

authors： Sinsheimer JS,Blangero J,Lange K

更新日期：2000-03-01 00:00:00

abstract：:Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth ...

journal_title：American journal of human genetics

authors： Valente EM,Salpietro DC,Brancati F,Bertini E,Galluccio T,Tortorella G,Briuglia S,Dallapiccola B

更新日期：2003-09-01 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：:To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality thresholds, data from 4,506 markers in 2,692 individuals were included ...

journal_title：American journal of human genetics

authors： Sawcer S,Ban M,Maranian M,Yeo TW,Compston A,Kirby A,Daly MJ,De Jager PL,Walsh E,Lander ES,Rioux JD,Hafler DA,Ivinson A,Rimmler J,Gregory SG,Schmidt S,Pericak-Vance MA,Akesson E,Hillert J,Datta P,Oturai A,Ryder L

更新日期：2005-09-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common struct...

journal_title：American journal of human genetics

authors： Amos-Landgraf JM,Ji Y,Gottlieb W,Depinet T,Wandstrat AE,Cassidy SB,Driscoll DJ,Rogan PK,Schwartz S,Nicholls RD

更新日期：1999-08-01 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：:Assignment of alleles to haplotypes for nearly all the variants on all chromosomes can be performed by genetic analysis of a nuclear family with three or more children. Whole-genome sequence data enable deterministic phasing of nearly all sequenced alleles by permitting assignment of recombinations to precise chromoso...

journal_title：American journal of human genetics

authors： Roach JC,Glusman G,Hubley R,Montsaroff SZ,Holloway AK,Mauldin DE,Srivastava D,Garg V,Pollard KS,Galas DJ,Hood L,Smit AF

更新日期：2011-09-09 00:00:00

abstract：:Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is a hereditary disorder characterized by the incomplete vascularization of the peripheral retina. The primary biochemical defect in adFEVR is unknown. The adFEVR locus has tentatively been assigned to 11q by linkage studies. We report the results of an ...

journal_title：American journal of human genetics

authors： Li Y,Müller B,Fuhrmann C,van Nouhuys CE,Laqua H,Humphries P,Schwinger E,Gal A

更新日期：1992-10-01 00:00:00

abstract：:Cisplatin, a platinating agent commonly used to treat several cancers, is associated with nephrotoxicity, neurotoxicity, and ototoxicity, which has hindered its utility. To gain a better understanding of the genetic variants associated with cisplatin-induced toxicity, we present a stepwise approach integrating genotyp...

journal_title：American journal of human genetics

authors： Huang RS,Duan S,Shukla SJ,Kistner EO,Clark TA,Chen TX,Schweitzer AC,Blume JE,Dolan ME

更新日期：2007-09-01 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：:Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To...

journal_title：American journal of human genetics

authors： Emanuel BS,Sellinger BT,Gudas LJ,Myers JC

更新日期：1986-01-01 00:00:00

abstract：:The central challenges in tumor sequencing studies is to identify driver genes and pathways, investigate their functional relationships, and nominate drug targets. The efficiency of these analyses, particularly for infrequently mutated genes, is compromised when subjects carry different combinations of driver mutation...

journal_title：American journal of human genetics

authors： Hua X,Hyland PL,Huang J,Song L,Zhu B,Caporaso NE,Landi MT,Chatterjee N,Shi J

更新日期：2016-03-03 00:00:00

abstract：:Independent replication of linkage in previously studied pedigrees is desirable when genetic heterogeneity is suspected or when the illness is very rare. When the likelihood of the new data in this type of replication study is computed as conditional on the previously reported linkage results, it can be considered ind...

journal_title：American journal of human genetics

authors： Gershon ES,Goldin LR

更新日期：1994-04-01 00:00:00

abstract：:Integration of detailed phenotype information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately and efficiently extr...

journal_title：American journal of human genetics

authors： Son JH,Xie G,Yuan C,Ena L,Li Z,Goldstein A,Huang L,Wang L,Shen F,Liu H,Mehl K,Groopman EE,Marasa M,Kiryluk K,Gharavi AG,Chung WK,Hripcsak G,Friedman C,Weng C,Wang K

更新日期：2018-07-05 00:00:00

abstract：:Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the dise...

journal_title：American journal of human genetics

authors： Simonaro CM,Park JH,Eliyahu E,Shtraizent N,McGovern MM,Schuchman EH

更新日期：2006-05-01 00:00:00

abstract：:Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (an...

journal_title：American journal of human genetics

authors： Veldhuisen B,Saris JJ,de Haij S,Hayashi T,Reynolds DM,Mochizuki T,Elles R,Fossdal R,Bogdanova N,van Dijk MA,Coto E,Ravine D,Nørby S,Verellen-Dumoulin C,Breuning MH,Somlo S,Peters DJ

更新日期：1997-09-01 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：:Band 3, the major transmembrane protein of erythrocytes, mediates the exchange of anions across the membrane and anchors the erythroid membrane skeleton. Proteins immunologically related to Band 3 have been detected in a variety of nonerythroid cells. We have isolated a human cDNA clone that encodes a protein related ...

journal_title：American journal of human genetics

authors： Palumbo AP,Isobe M,Huebner K,Shane S,Rovera G,Demuth D,Curtis PJ,Ballantine M,Croce CM,Showe LC

更新日期：1986-09-01 00:00:00

abstract：:Multiple morphological abnormalities of the sperm flagellum (MMAF) is a severe form of male infertility defined by the presence of a mosaic of anomalies, including short, bent, curled, thick, or absent flagella, resulting from a severe disorganization of the axoneme and of the peri-axonemal structures. Mutations in DN...

journal_title：American journal of human genetics

authors： Kherraf ZE,Amiri-Yekta A,Dacheux D,Karaouzène T,Coutton C,Christou-Kent M,Martinez G,Landrein N,Le Tanno P,Fourati Ben Mustapha S,Halouani L,Marrakchi O,Makni M,Latrous H,Kharouf M,Pernet-Gallay K,Gourabi H,Robinson DR

更新日期：2018-09-06 00:00:00

abstract：:We have previously reported that an X-linked recessive form of chronic idiopathic intestinal pseudo-obstruction (CIIPX) maps to Xq28. To select candidate genes for the disease, we analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. We selected and sequenced seven genes and...

journal_title：American journal of human genetics

authors： Gargiulo A,Auricchio R,Barone MV,Cotugno G,Reardon W,Milla PJ,Ballabio A,Ciccodicola A,Auricchio A

更新日期：2007-04-01 00:00:00

abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

journal_title：American journal of human genetics

authors： Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

更新日期：1990-03-01 00:00:00

abstract：:Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to...

journal_title：American journal of human genetics

authors： Timms AE,Crane AM,Sims AM,Cordell HJ,Bradbury LA,Abbott A,Coyne MR,Beynon O,Herzberg I,Duff GW,Calin A,Cardon LR,Wordsworth BP,Brown MA

更新日期：2004-10-01 00:00:00