Identification of internal variation in the pseudoautosomal VNTR DXYS17, with nonrandom distribution of the alleles on the X and the Y chromosomes.

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：: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：:The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and micr...

journal_title：American journal of human genetics

authors： Abdollahi MR,Morrison E,Sirey T,Molnar Z,Hayward BE,Carr IM,Springell K,Woods CG,Ahmed M,Hattingh L,Corry P,Pilz DT,Stoodley N,Crow Y,Taylor GR,Bonthron DT,Sheridan E

更新日期：2009-11-01 00:00:00

abstract：:The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant ...

journal_title：American journal of human genetics

authors： Bruder CE,Piotrowski A,Gijsbers AA,Andersson R,Erickson S,Diaz de Ståhl T,Menzel U,Sandgren J,von Tell D,Poplawski A,Crowley M,Crasto C,Partridge EC,Tiwari H,Allison DB,Komorowski J,van Ommen GJ,Boomsma DI,Pedersen NL

更新日期：2008-03-01 00:00:00

abstract：:Molecular geneticists are developing the third-generation human genome map with single-nucleotide polymorphisms (SNPs), which can be assayed via chip-based microarrays. One use of these SNP markers is the ability to locate loci that may be responsible for complex traits, via linkage/linkage-disequilibrium analysis. In...

journal_title：American journal of human genetics

authors： Zhao LP,Aragaki C,Hsu L,Quiaoit F

更新日期：1998-07-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chr...

journal_title：American journal of human genetics

authors： Chiang AP,Nishimura D,Searby C,Elbedour K,Carmi R,Ferguson AL,Secrist J,Braun T,Casavant T,Stone EM,Sheffield VC

更新日期：2004-09-01 00:00:00

abstract：:Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i) (i.e., no single tandem repeat predominates) have received little attention. The factor IX gene has a polymorphic cryptic RY...

journal_title：American journal of human genetics

authors： Jacobson DP,Schmeling P,Sommer SS

更新日期：1993-08-01 00:00:00

abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

journal_title：American journal of human genetics

authors： Liu J,Liu Y,Liu X,Deng HW

更新日期：2007-08-01 00:00:00

abstract：:Although there is considerable evidence for a strong genetic component to idiopathic autism, several genomewide screens for susceptibility genes have been performed with limited concordance of linked loci, reflecting either numerous genes of weak effect and/or sample heterogeneity. Because decreasing sample heterogene...

journal_title：American journal of human genetics

authors： Buxbaum JD,Silverman JM,Smith CJ,Kilifarski M,Reichert J,Hollander E,Lawlor BA,Fitzgerald M,Greenberg DA,Davis KL

更新日期：2001-06-01 00:00:00

abstract：:Copy number variants (CNVs) contribute to human genetic and phenotypic diversity. However, the distribution of larger CNVs in the general population remains largely unexplored. We identify large variants in approximately 2500 individuals by using Illumina SNP data, with an emphasis on "hotspots" prone to recurrent mut...

journal_title：American journal of human genetics

authors： Itsara A,Cooper GM,Baker C,Girirajan S,Li J,Absher D,Krauss RM,Myers RM,Ridker PM,Chasman DI,Mefford H,Ying P,Nickerson DA,Eichler EE

更新日期：2009-02-01 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：: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：: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：: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：: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：: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：:Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found tw...

journal_title：American journal of human genetics

authors： Lowden JA,Ives EJ,Keene DL,Burton AL,Skomorowski MA,Howard F

更新日期：1978-01-01 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：:A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiolog...

journal_title：American journal of human genetics

authors： Ramsay M,Bernstein R,Zwane E,Page DC,Jenkins T

更新日期：1988-07-01 00:00:00

abstract：:Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of su...

journal_title：American journal of human genetics

authors： Marchini J,Cutler D,Patterson N,Stephens M,Eskin E,Halperin E,Lin S,Qin ZS,Munro HM,Abecasis GR,Donnelly P,International HapMap Consortium.

更新日期：2006-03-01 00:00:00

abstract：:Parkinson disease (PD) is a common neurodegenerative disorder caused by environmental and genetic factors. We have previously shown linkage of PD to chromosome 8p. Subsequently, fibroblast growth factor 20 (FGF20) at 8p21.3-22 was identified as a risk factor in several association studies. To identify the risk-conferr...

journal_title：American journal of human genetics

authors： Wang G,van der Walt JM,Mayhew G,Li YJ,Züchner S,Scott WK,Martin ER,Vance JM

更新日期：2008-02-01 00:00:00

abstract：:Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low...

journal_title：American journal of human genetics

authors： Ellis NA,Lennon DJ,Proytcheva M,Alhadeff B,Henderson EE,German J

更新日期：1995-11-01 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：:Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a...

journal_title：American journal of human genetics

authors： Rees JL

更新日期：2004-11-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

journal_title：American journal of human genetics

authors： Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

更新日期：2016-07-07 00:00:00

abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

journal_title：American journal of human genetics

authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

更新日期：2008-07-01 00:00:00

abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

journal_title：American journal of human genetics

authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

更新日期：2018-02-01 00:00:00

abstract：:Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single af...

journal_title：American journal of human genetics

authors： Twigg SRF,Hufnagel RB,Miller KA,Zhou Y,McGowan SJ,Taylor J,Craft J,Taylor JC,Santoro SL,Huang T,Hopkin RJ,Brady AF,Clayton-Smith J,Clericuzio CL,Grange DK,Groesser L,Hafner C,Horn D,Temple IK,Dobyns WB,Curry CJ,

更新日期：2016-06-02 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 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