Isolated persistent hypermethioninemia.

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：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

journal_title：American journal of human genetics

authors： Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

更新日期：1996-09-01 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：:The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP)...

journal_title：American journal of human genetics

authors： Rainier S,Chai JH,Tokarz D,Nicholls RD,Fink JK

更新日期：2003-10-01 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：:Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero. The disease in this kin...

journal_title：American journal of human genetics

authors： Raskind WH,Wijsman E,Pagon RA,Cox TC,Bawden MJ,May BK,Bird TD

更新日期：1991-02-01 00:00:00

abstract：:Both the optimal marker density for genome scans in case-control association studies and the appropriate study design for the testing of candidate genes depend on the genomic pattern of linkage disequilibrium (LD). In this study, we provide the first conclusive demonstration that the diverse demographic histories of h...

journal_title：American journal of human genetics

authors： Wilson JF,Goldstein DB

更新日期：2000-10-01 00:00:00

abstract：:The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here, we report on two families with recessive mutations in NCAPG2 and ov...

journal_title：American journal of human genetics

authors： Khan TN,Khan K,Sadeghpour A,Reynolds H,Perilla Y,McDonald MT,Gallentine WB,Baig SM,Task Force for Neonatal Genomics.,Davis EE,Katsanis N

更新日期：2019-01-03 00:00:00

abstract：:Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The disease has a tremen...

journal_title：American journal of human genetics

authors： Aufenvenne K,Larcher F,Hausser I,Duarte B,Oji V,Nikolenko H,Del Rio M,Dathe M,Traupe H

更新日期：2013-10-03 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：: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：:Five RFLPS of X-linked coagulation factor IX were evaluated in more than 500 normal persons (723-804 X chromosomes) of both sexes who belonged to eight ethnic groups: Anglo-Americans, Basques, Swedes, African-Americans, East Africans, East Indians, Chinese, and Malays. The polymorphisms, 5' to 3', were BamHI, XmnI, Ta...

journal_title：American journal of human genetics

authors： Graham JB,Kunkel GR,Egilmez NK,Wallmark A,Fowlkes DM,Lord ST

更新日期：1991-09-01 00:00:00

abstract：:Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively. A...

journal_title：American journal of human genetics

authors： Butcher DT,Cytrynbaum C,Turinsky AL,Siu MT,Inbar-Feigenberg M,Mendoza-Londono R,Chitayat D,Walker S,Machado J,Caluseriu O,Dupuis L,Grafodatskaya D,Reardon W,Gilbert-Dussardier B,Verloes A,Bilan F,Milunsky JM,Basran R,

更新日期：2017-05-04 00:00:00

abstract：:Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or undetectable enzymatic a...

journal_title：American journal of human genetics

authors： Reichardt JK,Packman S,Woo SL

更新日期：1991-10-01 00:00:00

abstract：:Huntington disease (HD) is a common autosomal dominant neurodegenerative disease with early adult-onset motor abnormalities and dementia. Many studies of HD show that huntingtin (CAG)n repeat-expansion length is a sensitive and specific marker for HD. However, there are a significant number of examples of HD in the ab...

journal_title：American journal of human genetics

authors： Moore RC,Xiang F,Monaghan J,Han D,Zhang Z,Edström L,Anvret M,Prusiner SB

更新日期：2001-12-01 00:00:00

abstract：:Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, inc...

journal_title：American journal of human genetics

authors： Ghassibe-Sabbagh M,Desmyter L,Langenberg T,Claes F,Boute O,Bayet B,Pellerin P,Hermans K,Backx L,Mansilla MA,Imoehl S,Nowak S,Ludwig KU,Baluardo C,Ferrian M,Mossey PA,Noethen M,Dewerchin M,François G,Revencu N,Vanw

更新日期：2011-02-11 00:00:00

abstract：:To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the dis...

journal_title：American journal of human genetics

authors： Génin E,Clerget-Darpoux F

更新日期：1996-04-01 00:00:00

abstract：:Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. A genome scan of 345 families from the A...

journal_title：American journal of human genetics

authors： Cantor RM,Kono N,Duvall JA,Alvarez-Retuerto A,Stone JL,Alarcón M,Nelson SF,Geschwind DH

更新日期：2005-06-01 00:00:00

abstract：:Tibetan high-altitude adaptation (HAA) has been studied extensively, and many candidate genes have been reported. Subsequent efforts targeting HAA functional variants, however, have not been that successful (e.g., no functional variant has been suggested for the top candidate HAA gene, EPAS1). With WinXPCNVer, a metho...

journal_title：American journal of human genetics

authors： Lou H,Lu Y,Lu D,Fu R,Wang X,Feng Q,Wu S,Yang Y,Li S,Kang L,Guan Y,Hoh BP,Chung YJ,Jin L,Su B,Xu S

更新日期：2015-07-02 00:00:00

abstract：:On the basis of the known amino acid sequence of statherin, a human salivary protein, mixed synthetic oligonucleotides were synthesized and used to screen a cDNA library constructed from human parotid-gland mRNA. A cDNA clone coding for statherin was isolated from this library and has been completely sequenced. The cD...

journal_title：American journal of human genetics

authors： Sabatini LM,Carlock LR,Johnson GW,Azen EA

更新日期：1987-12-01 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：:Genes on chromosomes 17q and 18q have been shown to code for putative tumor suppressors. By a combination of allele-loss studies on sporadic ovarian carcinomas and linkage analysis on a breast/ovarian cancer family, we have investigated the involvement of such genes in these diseases. Allele loss occurred in sporadic ...

journal_title：American journal of human genetics

authors： Milner BJ,Allan LA,Kelly KF,Cruickshank D,Hall M,Johnston A,Kitchener H,Parkin D,Haites N

更新日期：1993-04-01 00:00:00

abstract：:Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, edu...

journal_title：American journal of human genetics

authors： Reiss AL,Freund L,Vinogradov S,Hagerman R,Cronister A

更新日期：1989-11-01 00:00:00

abstract：:The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Kaplan RM

更新日期：1998-10-01 00:00:00

abstract：:To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region s...

journal_title：American journal of human genetics

authors： Palanichamy MG,Sun C,Agrawal S,Bandelt HJ,Kong QP,Khan F,Wang CY,Chaudhuri TK,Palla V,Zhang YP

更新日期：2004-12-01 00:00:00

abstract：:Common variation in over 100 genes has been implicated in the risk of developing asthma, but the contribution of rare variants to asthma susceptibility remains largely unexplored. We selected nine genes that showed the strongest signatures of weak purifying selection from among 53 candidate asthma-associated genes, an...

journal_title：American journal of human genetics

authors： Torgerson DG,Capurso D,Mathias RA,Graves PE,Hernandez RD,Beaty TH,Bleecker ER,Raby BA,Meyers DA,Barnes KC,Weiss ST,Martinez FD,Nicolae DL,Ober C

更新日期：2012-02-10 00:00:00

abstract：:Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed wi...

journal_title：American journal of human genetics

authors： Chong JX,McMillin MJ,Shively KM,Beck AE,Marvin CT,Armenteros JR,Buckingham KJ,Nkinsi NT,Boyle EA,Berry MN,Bocian M,Foulds N,Uzielli ML,Haldeman-Englert C,Hennekam RC,Kaplan P,Kline AD,Mercer CL,Nowaczyk MJ,Klein Was

更新日期：2015-03-05 00:00:00

abstract：:Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had micr...

journal_title：American journal of human genetics

authors： Veltman JA,Jonkers Y,Nuijten I,Janssen I,van der Vliet W,Huys E,Vermeesch J,Van Buggenhout G,Fryns JP,Admiraal R,Terhal P,Lacombe D,van Kessel AG,Smeets D,Schoenmakers EF,van Ravenswaaij-Arts CM

更新日期：2003-06-01 00:00:00

abstract：:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...

journal_title：American journal of human genetics

authors： Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

更新日期：2003-02-01 00:00:00

abstract：:The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We use...

journal_title：American journal of human genetics

authors： Hartig MB,Iuso A,Haack T,Kmiec T,Jurkiewicz E,Heim K,Roeber S,Tarabin V,Dusi S,Krajewska-Walasek M,Jozwiak S,Hempel M,Winkelmann J,Elstner M,Oexle K,Klopstock T,Mueller-Felber W,Gasser T,Trenkwalder C,Tiranti V,Kr

更新日期：2011-10-07 00:00:00