Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

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：: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：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...

journal_title：American journal of human genetics

authors： Kammerer CM,MacCluer JW,Bridges JM

更新日期：1984-01-01 00:00:00

abstract：:We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, th...

journal_title：American journal of human genetics

authors： Zhao H,Li R,Wang Q,Yan Q,Deng JH,Han D,Bai Y,Young WY,Guan MX

更新日期：2004-01-01 00:00:00

abstract：:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by ...

journal_title：American journal of human genetics

authors： White SL,Collins VR,Wolfe R,Cleary MA,Shanske S,DiMauro S,Dahl HH,Thorburn DR

更新日期：1999-08-01 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：:Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, present...

journal_title：American journal of human genetics

authors： Raas-Rothschild A,Wanders RJ,Mooijer PA,Gootjes J,Waterham HR,Gutman A,Suzuki Y,Shimozawa N,Kondo N,Eshel G,Espeel M,Roels F,Korman SH

更新日期：2002-04-01 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：:A genome scan of the hoarding phenotype (a component of obsessive-compulsive disorder) was conducted on 77 sib pairs collected by the Tourette Syndrome Association International Consortium for Genetics (TSAICG). All sib pairs were concordant for a diagnosis of Gilles de la Tourette syndrome (GTS). However, the analyse...

journal_title：American journal of human genetics

authors： Zhang H,Leckman JF,Pauls DL,Tsai CP,Kidd KK,Campos MR,Tourette Syndrome Association International Consortium for Genetics.

更新日期：2002-04-01 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：:We have isolated large numbers of human recombinants from a cosmid library constructed from an interspecific (hamster/human) somatic cell hybrid whose only human component is an intact chromosome 3. Unique sequence probes were isolated from these recombinants and were used to localize them along the length of chromoso...

journal_title：American journal of human genetics

authors： Smith DI,Golembieski W,Drabkin H,Kiousis S

更新日期：1989-09-01 00:00:00

abstract：:Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of tumor aggressivenes...

journal_title：American journal of human genetics

authors： Slager SL,Schaid DJ,Cunningham JM,McDonnell SK,Marks AF,Peterson BJ,Hebbring SJ,Anderson S,French AJ,Thibodeau SN

更新日期：2003-03-01 00:00:00

abstract：:In the present report, we summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21 nondisjunction. We used two cytogenetic approaches--fluorescent in situ hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding--to distinguish chromosome 21 h...

journal_title：American journal of human genetics

authors： Lorber BJ,Grantham M,Peters J,Willard HF,Hassold TJ

更新日期：1992-12-01 00:00:00

abstract：:We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived state) is lowest in Africa (.42) but is higher and similar in India (.55), Europe (.56), and Asia (.57). A comparison with 30 restriction-site polymorphisms (R...

journal_title：American journal of human genetics

authors： Watkins WS,Ricker CE,Bamshad MJ,Carroll ML,Nguyen SV,Batzer MA,Harpending HC,Rogers AR,Jorde LB

更新日期：2001-03-01 00:00:00

abstract：:Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease (PH I and II, respect...

journal_title：American journal of human genetics

authors： Belostotsky R,Seboun E,Idelson GH,Milliner DS,Becker-Cohen R,Rinat C,Monico CG,Feinstein S,Ben-Shalom E,Magen D,Weissman I,Charon C,Frishberg Y

更新日期：2010-09-10 00:00:00

abstract：:DNA length polymorphism in the 5'-flanking region of the human insulin gene has been reported by Bell et al. (1981), Rotwein et al. (1981), and Owerbach and Nerup (1982). Bgl I digestions of human DNA that have been hybridized to an insulin probe using the Southern technique shows that there are two distinct groups of...

journal_title：American journal of human genetics

authors： Yokoyama S

更新日期：1983-03-01 00:00:00

abstract：:Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzi...

journal_title：American journal of human genetics

authors： Galatà G,García-Montero AC,Kristensen T,Dawoud AAZ,Muñoz-González JI,Meggendorfer M,Guglielmelli P,Hoade Y,Alvarez-Twose I,Gieger C,Strauch K,Ferrucci L,Tanaka T,Bandinelli S,Schnurr TM,Haferlach T,Broesby-Olsen S,Veste

更新日期：2021-01-04 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：:Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...

journal_title：American journal of human genetics

authors： Sun L,Cox NJ,McPeek MS

更新日期：2002-02-01 00:00:00

abstract：:Monoamine oxidase (MAO) is a critical enzyme in the degradative deamination of biogenic amines throughout the body. Two biochemically distinct forms of the enzyme, A and B, are encoded in separate genes on the human X chromosome. In these studies we investigated the role of the structural gene for MAO-A in determining...

journal_title：American journal of human genetics

authors： Hotamisligil GS,Breakefield XO

更新日期：1991-08-01 00:00:00

abstract：:Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibil...

journal_title：American journal of human genetics

authors： Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes V

更新日期：1996-05-01 00:00:00

abstract：:Fragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in ...

journal_title：American journal of human genetics

authors： Hundscheid RD,Sistermans EA,Thomas CM,Braat DD,Straatman H,Kiemeney LA,Oostra BA,Smits AP

更新日期：2000-02-01 00:00:00

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：:Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped prominences that develop from the growth centers of the long bones. EXT is genetically heterogeneous, with three loci, currently identified on chromosomes 8q24.1, 11p13, and 19q. The EXT1 gene, loca...

journal_title：American journal of human genetics

authors： Hecht JT,Hogue D,Wang Y,Blanton SH,Wagner M,Strong LC,Raskind W,Hansen MF,Wells D

更新日期：1997-01-01 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 successfully identified thousands of genetic variants for many complex diseases; however, these variants explain only a small fraction of the heritability. Recently, genetic association studies that leverage external transcriptome data have received much attention and shown...

journal_title：American journal of human genetics

authors： Su YR,Di C,Bien S,Huang L,Dong X,Abecasis G,Berndt S,Bezieau S,Brenner H,Caan B,Casey G,Chang-Claude J,Chanock S,Chen S,Connolly C,Curtis K,Figueiredo J,Gala M,Gallinger S,Harrison T,Hoffmeister M,Hopper J,Huy

更新日期：2018-05-03 00:00:00

abstract：:Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. A...

journal_title：American journal of human genetics

authors： Lefranc G,Rivat L,Rivat C,Loiselet J,Ropartz C

更新日期：1976-01-01 00:00:00

abstract：:Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmis...

journal_title：American journal of human genetics

authors： Müller B,Hedrich K,Kock N,Dragasevic N,Svetel M,Garrels J,Landt O,Nitschke M,Pramstaller PP,Reik W,Schwinger E,Sperner J,Ozelius L,Kostic V,Klein C

更新日期：2002-12-01 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：:An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late ...

journal_title：American journal of human genetics

authors： Cohen MM,Charrow J,Balkin NE,Harris CJ

更新日期：1983-07-01 00:00:00