Mitochondrial DNA polymorphism among five Asian populations.

abstract：:The phosphatase activity of bisphosphoglyceromutase (DPGM) was used to determine the phenotypes of the enzyme. DPGM was polymorphic in four Alaskan ethnic groups. ...

journal_title：American journal of human genetics

authors： Scott EM,Wright RC

更新日期：1982-11-01 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：:Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are...

journal_title：American journal of human genetics

authors： Lee-Kirsch MA,Gong M,Schulz H,Rüschendorf F,Stein A,Pfeiffer C,Ballarini A,Gahr M,Hubner N,Linné M

更新日期：2006-10-01 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：:Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication...

journal_title：American journal of human genetics

authors： Burrage LC,Charng WL,Eldomery MK,Willer JR,Davis EE,Lugtenberg D,Zhu W,Leduc MS,Akdemir ZC,Azamian M,Zapata G,Hernandez PP,Schoots J,de Munnik SA,Roepman R,Pearring JN,Jhangiani S,Katsanis N,Vissers LE,Brunner HG,

更新日期：2015-12-03 00:00:00

abstract：:The problem considered is that of estimating the age or rate of increase of a variant on the basis of the present number of replicates observed in a population. In place of previous diffusion equation analyses of age probability distributions, the likelihood for the age is studied on the basis of a discrete branching ...

journal_title：American journal of human genetics

authors： Thompson EA

更新日期：1976-09-01 00:00:00

abstract：:Epigenetic modifications, including DNA methylation, represent a potential mechanism for environmental impacts on human disease. Maternal smoking in pregnancy remains an important public health problem that impacts child health in a myriad of ways and has potential lifelong consequences. The mechanisms are largely unk...

journal_title：American journal of human genetics

authors： Joubert BR,Felix JF,Yousefi P,Bakulski KM,Just AC,Breton C,Reese SE,Markunas CA,Richmond RC,Xu CJ,Küpers LK,Oh SS,Hoyo C,Gruzieva O,Söderhäll C,Salas LA,Baïz N,Zhang H,Lepeule J,Ruiz C,Ligthart S,Wang T,Taylor

更新日期：2016-04-07 00:00:00

abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...

journal_title：American journal of human genetics

authors： Schutte M,Seal S,Barfoot R,Meijers-Heijboer H,Wasielewski M,Evans DG,Eccles D,Meijers C,Lohman F,Klijn J,van den Ouweland A,Futreal PA,Nathanson KL,Weber BL,Easton DF,Stratton MR,Rahman N,Breast Cancer Linkage Consortiu

更新日期：2003-04-01 00:00:00

abstract：:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discr...

journal_title：American journal of human genetics

authors： Leslie PW

更新日期：1983-09-01 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：:Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of t...

journal_title：American journal of human genetics

authors： Richard I,Brenguier L,Dinçer P,Roudaut C,Bady B,Burgunder JM,Chemaly R,Garcia CA,Halaby G,Jackson CE,Kurnit DM,Lefranc G,Legum C,Loiselet J,Merlini L,Nivelon-Chevallier A,Ollagnon-Roman E,Restagno G,Topaloglu H,Beck

更新日期：1997-05-01 00:00:00

abstract：:Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the pro alpha 2(I) human collagen gene, we found...

journal_title：American journal of human genetics

authors： Tsipouras P,Børresen AL,Dickson LA,Berg K,Prockop DJ,Ramirez F

更新日期：1984-11-01 00:00:00

abstract：:A novel technique for detecting electrophoretic and quantitative variants of group-specific component (Gc) proteins is described. The technique, in vitro labeling with radioactive vitamin D followed by polyacrylamide gel electrophoresis and autoradiography (PAGE autoradiography), permits sensitive, high resolution det...

journal_title：American journal of human genetics

authors： Daiger SP,Cavalli-Sforza LL

更新日期：1977-11-01 00:00:00

abstract：:X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inacti...

journal_title：American journal of human genetics

authors： Plenge RM,Tranebjaerg L,Jensen PK,Schwartz C,Willard HF

更新日期：1999-03-01 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

abstract：:It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown ...

journal_title：American journal of human genetics

authors： Shashi V,Golden WL,Allinson PS,Blanton SH,von Kap-Herr C,Kelly TE

更新日期：1996-06-01 00:00:00

abstract：:The long-QT syndrome (LQT; Ward-Romano syndrome) is a cardiac disorder that is inherited as an autosomal dominant trait. Affected family members suffer from recurrent syncope and sudden death due to ventricular arrhythmias. Recently, we identified a DNA marker on the short arm of chromosome 11 (the Harvey ras-1 locus ...

journal_title：American journal of human genetics

authors： Keating M,Dunn C,Atkinson D,Timothy K,Vincent GM,Leppert M

更新日期：1991-12-01 00:00:00

abstract：:A family-history cancer survey was conducted on 5,486 men who underwent a radical prostatectomy, for clinically localized prostate cancer, in the Department of Urology at the Mayo Clinic during 1966-95; 4,288 men responded to the survey. Complex segregation analysis was performed to assess the genetic basis of age at ...

journal_title：American journal of human genetics

authors： Schaid DJ,McDonnell SK,Blute ML,Thibodeau SN

更新日期：1998-06-01 00:00:00

abstract：:X inactivation involves initiation, propagation, and maintenance of genetic inactivation. Studies of replication timing in X;autosome translocations have suggested that X inactivation may spread into adjacent autosomal DNA. To examine the inactivation of autosomal material at the molecular level, we assessed the trans...

journal_title：American journal of human genetics

authors： White WM,Willard HF,Van Dyke DL,Wolff DJ

更新日期：1998-07-01 00:00:00

abstract：:Génin and Clerget-Darpoux recently discussed the derivation of the probabilities of identity states for populations in which there was some degree of kinship, primarily to allow the extension of the classical affected-sib-pair method to such populations. It is argued here that their derivation makes certain assumption...

journal_title：American journal of human genetics

authors： Cannings C

更新日期：1998-03-01 00:00:00

abstract：:Shovel shape of upper incisors is a common characteristic in Asian and Native American populations but is rare or absent in African and European populations. Like other common dental traits, genetic polymorphisms involved in the tooth shoveling have not yet been clarified. In ectodysplasin A receptor (EDAR), where dys...

journal_title：American journal of human genetics

authors： Kimura R,Yamaguchi T,Takeda M,Kondo O,Toma T,Haneji K,Hanihara T,Matsukusa H,Kawamura S,Maki K,Osawa M,Ishida H,Oota H

更新日期：2009-10-01 00:00:00

abstract：:We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early dea...

journal_title：American journal of human genetics

authors： Wortmann SB,Ziętkiewicz S,Kousi M,Szklarczyk R,Haack TB,Gersting SW,Muntau AC,Rakovic A,Renkema GH,Rodenburg RJ,Strom TM,Meitinger T,Rubio-Gozalbo ME,Chrusciel E,Distelmaier F,Golzio C,Jansen JH,van Karnebeek C,Lillqu

更新日期：2015-02-05 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsen...

journal_title：American journal of human genetics

authors： Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

更新日期：2006-12-01 00:00:00

abstract：:To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed. Expansion of the fragile X chromosome to the full mutation was seen in 13.4% of offspring from premutation mothers with 56-59 repeats, 20....

journal_title：American journal of human genetics

authors： Nolin SL,Lewis FA 3rd,Ye LL,Houck GE Jr,Glicksman AE,Limprasert P,Li SY,Zhong N,Ashley AE,Feingold E,Sherman SL,Brown WT

更新日期：1996-12-01 00:00:00

abstract：:Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. Here, in the four-generation family UW-AP, linkage analysis revealed four regions that provided the maximal LOD scor...

journal_title：American journal of human genetics

authors： Chen DH,Below JE,Shimamura A,Keel SB,Matsushita M,Wolff J,Sul Y,Bonkowski E,Castella M,Taniguchi T,Nickerson D,Papayannopoulou T,Bird TD,Raskind WH

更新日期：2016-06-02 00:00:00

abstract：:Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE reviews, we assessed the scientific evidence supporting the purported gene-disease associations for genes included in g...

journal_title：American journal of human genetics

authors： Janssens AC,Gwinn M,Bradley LA,Oostra BA,van Duijn CM,Khoury MJ

更新日期：2008-03-01 00:00:00

abstract：:The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this study was to identify the target gene(s) and the functional variant(...

journal_title：American journal of human genetics

authors： Vicente CT,Edwards SL,Hillman KM,Kaufmann S,Mitchell H,Bain L,Glubb DM,Lee JS,French JD,Ferreira MA

更新日期：2015-08-06 00:00:00

abstract：:The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

journal_title：American journal of human genetics

authors： McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

更新日期：1995-06-01 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：:HLA class II loci are useful markers in human population genetics, because they are extremely variable and because new molecular techniques allow large-scale analysis of DNA allele frequencies. Direct DNA typing by hybridization with sequence-specific oligonucleotide probes (HLA oligotyping) after enzymatic in vitro P...

journal_title：American journal of human genetics

authors： Tiercy JM,Sanchez-Mazas A,Excoffier L,Shi-Isaac X,Jeannet M,Mach B,Langaney A

更新日期：1992-09-01 00:00:00