HLA antigens in cardiomyopathic Chilean chagasics.

abstract：:A NotI-linking library was constructed from a radiation hybrid containing fragments of human chromosome 16. The clones were mapped on a panel of somatic cell hybrids, and 10 different NotI site-containing clones were localized close to and between genetic markers flanking the PKD1 locus. With pulsed-field gel analysis...

journal_title：American journal of human genetics

authors： Himmelbauer H,Germino GG,Ceccherini I,Romeo G,Reeders ST,Frischauf AM

更新日期：1991-02-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there are discrepant SMA...

journal_title：American journal of human genetics

authors： Prior TW,Krainer AR,Hua Y,Swoboda KJ,Snyder PC,Bridgeman SJ,Burghes AH,Kissel JT

更新日期：2009-09-01 00:00:00

abstract：:During the course of prenatal diagnosis for beta-thalassemia in Chinese patients, we encountered a mutation that was not detectable by oligonucleotides for the known Chinese mutations. Amplification of the beta-globin gene by the polymerase chain reaction and direct DNA sequencing revealed a previously undescribed -30...

journal_title：American journal of human genetics

authors： Cai SP,Zhang JZ,Doherty M,Kan YW

更新日期：1989-07-01 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：:We have developed a technique called "LSSP-PCR" (low-stringency single specific primer PCR) that detects single or multiple mutations in DNA. A purified DNA fragment is submitted to PCR by using a single primer specific for one of the extremities of the fragment, under conditions of very low stringency. The primer hyb...

journal_title：American journal of human genetics

authors： Barreto G,Vago AR,Ginther C,Simpson AJ,Pena SD

更新日期：1996-03-01 00:00:00

abstract：:The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential). We compared developmental outcomes and medical histories of 21 Hartnup subjects, identified through newborn screening, with those of 19...

journal_title：American journal of human genetics

authors： Scriver CR,Mahon B,Levy HL,Clow CL,Reade TM,Kronick J,Lemieux B,Laberge C

更新日期：1987-05-01 00:00:00

abstract：:Whether smoking-associated DNA methylation has a causal effect on lung function has not been thoroughly evaluated. We first investigated the causal effects of 474 smoking-associated CpGs on forced expiratory volume in 1 s (FEV1) in UK Biobank (n = 321,047) by using two-sample Mendelian randomization (MR) and then repl...

journal_title：American journal of human genetics

authors： Jamieson E,Korologou-Linden R,Wootton RE,Guyatt AL,Battram T,Burrows K,Gaunt TR,Tobin MD,Munafò M,Davey Smith G,Tilling K,Relton C,Richardson TG,Richmond RC

更新日期：2020-03-05 00:00:00

abstract：:Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximate...

journal_title：American journal of human genetics

authors： Savino M,Ianzano L,Strippoli P,Ramenghi U,Arslanian A,Bagnara GP,Joenje H,Zelante L,Savoia A

更新日期：1997-12-01 00:00:00

abstract：:The human transferrin receptor is an integral membrane glycoprotein of 180,000 molecular weight (mol. wt.) formed from two subunits of 90,000 mol. wt. A clone panel of Chinese hamster-human somatic cell hybrids was screened using a single cell plating cytotoxicity assay and rabbit antiserum raised to purified human tr...

journal_title：American journal of human genetics

authors： Miller YE,Jones C,Scoggin C,Morse H,Seligman P

更新日期：1983-07-01 00:00:00

abstract：:The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC). Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in A...

journal_title：American journal of human genetics

authors： Zhang YH,Guo W,Wagner RL,Huang BL,McCabe L,Vilain E,Burris TP,Anyane-Yeboa K,Burghes AH,Chitayat D,Chudley AE,Genel M,Gertner JM,Klingensmith GJ,Levine SN,Nakamoto J,New MI,Pagon RA,Pappas JG,Quigley CA,Rosenthal

更新日期：1998-04-01 00:00:00

abstract：:Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish between these subtypes by...

journal_title：American journal of human genetics

authors： Scott HS,Litjens T,Nelson PV,Thompson PR,Brooks DA,Hopwood JJ,Morris CP

更新日期：1993-11-01 00:00:00

abstract：:Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome. Genetic-linkage analysis has implicated the fibrillin-2 gene (FBN2) as the CCA locus. Mutation analysis of two isolated CCA patients revealed missense mutation...

journal_title：American journal of human genetics

authors： Maslen C,Babcock D,Raghunath M,Steinmann B

更新日期：1997-06-01 00:00:00

abstract：:Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutatio...

journal_title：American journal of human genetics

authors： White KE,Cabral JM,Davis SI,Fishburn T,Evans WE,Ichikawa S,Fields J,Yu X,Shaw NJ,McLellan NJ,McKeown C,Fitzpatrick D,Yu K,Ornitz DM,Econs MJ

更新日期：2005-02-01 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：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

journal_title：American journal of human genetics

authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

更新日期：2006-09-01 00:00:00

abstract：:Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies...

journal_title：American journal of human genetics

authors： Mitani T,Punetha J,Akalin I,Pehlivan D,Dawidziuk M,Coban Akdemir Z,Yilmaz S,Aslan E,Hunter JV,Hijazi H,Grochowski CM,Jhangiani SN,Karaca E,Fatih JM,Iwanowski P,Gambin T,Wlasienko P,Goszczanska-Ciuchta A,Bekiesinska-Fi

更新日期：2019-11-07 00:00:00

abstract：:Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In the process of study...

journal_title：American journal of human genetics

authors： Kane MS,Davids M,Adams C,Wolfe LA,Cheung HW,Gropman A,Huang Y,NISC Comparative Sequencing Program.,Ng BG,Freeze HH,Adams DR,Gahl WA,Boerkoel CF

更新日期：2016-02-04 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：: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：:Congenital bilateral aplasia of the vas deferens (CBAVD) was suggested to be a mild form of cystic fibrosis (CF). Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in males with CBAVD revealed that in some males CBAVD is caused by two defective CFTR alleles. The genetic basis of ...

journal_title：American journal of human genetics

authors： Rave-Harel N,Madgar I,Goshen R,Nissim-Rafinia M,Ziadni A,Rahat A,Chiba O,Kalman YM,Brautbar C,Levinson D

更新日期：1995-06-01 00:00:00

abstract：:Chiasma frequency data on 183 males were subjected to an analysis of covariance. There appeared to be little or no linear trend in chiasma frequency with age. This conclusion was supported by a detailed analysis of chiasma frequencies for each autosome from 21 males. There were, however, significant differences among ...

journal_title：American journal of human genetics

authors： Lange K,Page BM,Elston RC

更新日期：1975-05-01 00:00:00

abstract：:Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholeste...

journal_title：American journal of human genetics

authors： Ludwig EH,McCarthy BJ

更新日期：1990-10-01 00:00:00

abstract：:Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental an...

journal_title：American journal of human genetics

authors： Flex E,Niceta M,Cecchetti S,Thiffault I,Au MG,Capuano A,Piermarini E,Ivanova AA,Francis JW,Chillemi G,Chandramouli B,Carpentieri G,Haaxma CA,Ciolfi A,Pizzi S,Douglas GV,Levine K,Sferra A,Dentici ML,Pfundt RR,Le Pi

更新日期：2016-10-06 00:00:00

abstract：:Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-an...

journal_title：American journal of human genetics

authors： Franceschini N,van Rooij FJ,Prins BP,Feitosa MF,Karakas M,Eckfeldt JH,Folsom AR,Kopp J,Vaez A,Andrews JS,Baumert J,Boraska V,Broer L,Hayward C,Ngwa JS,Okada Y,Polasek O,Westra HJ,Wang YA,Del Greco M F,Glazer NL,

更新日期：2012-10-05 00:00:00

abstract：:Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that is often encountered in both population-based and family-based GWASs is that of identifying cryptic relatedness and population stratification because it is well known that failure to ...

journal_title：American journal of human genetics

authors： Thornton T,Tang H,Hoffmann TJ,Ochs-Balcom HM,Caan BJ,Risch N

更新日期：2012-07-13 00:00:00

abstract：:The two main phenotypes of inflammatory bowel disease (IBD)--Crohn's disease (CD) and ulcerative colitis (UC)--are chronic intestinal inflammatory disorders with a complex genetic background. Using a three-stage design, we performed a functional candidate-gene analysis of innate immune pathway in IBD. In phase I, we t...

journal_title：American journal of human genetics

authors： Zhernakova A,Festen EM,Franke L,Trynka G,van Diemen CC,Monsuur AJ,Bevova M,Nijmeijer RM,van 't Slot R,Heijmans R,Boezen HM,van Heel DA,van Bodegraven AA,Stokkers PC,Wijmenga C,Crusius JB,Weersma RK

更新日期：2008-05-01 00:00:00

abstract：:Regional chromosomal mosaicism has been found in tissue from the clitoral mass of an infant presenting with ambiguous genitalia. Chromosome analysis of skin from the clitoral mass was interpreted as 46,XX/52,XX, +2, +7, +8, +12, +13, +20, whereas study of ovarian tissue and peripheral lymphocytes found each to have no...

journal_title：American journal of human genetics

authors： Seely JR,Seely BL,Bley R Jr,Altmiller CJ

更新日期：1984-07-01 00:00:00

abstract：:We report the physical linkage of the gene encoding one of the subunits of the GABAA receptor (GABRA3) to the polymorphic locus DXS374 on the human X chromosome at Xq28. X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these di...

journal_title：American journal of human genetics

authors： Bell MV,Bloomfield J,McKinley M,Patterson MN,Darlison MG,Barnard EA,Davies KE

更新日期：1989-12-01 00:00:00

abstract：:About 20%-25% of Caucasian individuals are nonsecretors who fail to express soluble A, B, H, and Lewis b histo-blood group antigens in secretory organs and secretory fluids because of the absence of the Secretor gene (FUT2)-encoded alpha(1,2)-fucosyltransferase (Se enzyme) activity. Recently, the FUT2 and a pseudogene...

journal_title：American journal of human genetics

authors： Koda Y,Soejima M,Liu Y,Kimura H

更新日期：1996-08-01 00:00:00

abstract：:A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male ...

journal_title：American journal of human genetics

authors： Green PM,Saad S,Lewis CM,Giannelli F

更新日期：1999-12-01 00:00:00