A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other.

abstract：:A matched case-control study of 100 mothers of Down syndrome children, 100 mothers of children with other defects (defect controls), and 100 mothers of children with no defects (normal controls) was carried out. All infants were born in upstate New York in 1980 and 1981. Matching was very close on maternal age for the...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK

更新日期：1985-11-01 00:00:00

abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

journal_title：American journal of human genetics

authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

更新日期：1997-07-01 00:00:00

abstract：:Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with ...

journal_title：American journal of human genetics

authors： Jamieson CR,Fryns JP,Jacobs J,Matthijs G,Abramowicz MJ

更新日期：2000-12-01 00:00:00

abstract：:Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by mitotic recombination of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita (DC). DC is a mult...

journal_title：American journal of human genetics

authors： Jongmans MC,Verwiel ET,Heijdra Y,Vulliamy T,Kamping EJ,Hehir-Kwa JY,Bongers EM,Pfundt R,van Emst L,van Leeuwen FN,van Gassen KL,Geurts van Kessel A,Dokal I,Hoogerbrugge N,Ligtenberg MJ,Kuiper RP

更新日期：2012-03-09 00:00:00

abstract：:X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS defici...

journal_title：American journal of human genetics

authors： Basler E,Grompe M,Parenti G,Yates J,Ballabio A

更新日期：1992-03-01 00:00:00

abstract：:Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are perf...

journal_title：American journal of human genetics

authors： Hu YJ,Berndt SI,Gustafsson S,Ganna A,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,Hirschhorn J,North KE,Ingelsson E,Lin DY

更新日期：2013-08-08 00:00:00

abstract：:A stepwise logistic-regression procedure is proposed for evaluation of the relative importance of variants at different sites within a small genetic region. By fitting statistical models with main effects, rather than modeling the full haplotype effects, we generate tests, with few degrees of freedom, that are likely ...

journal_title：American journal of human genetics

authors： Cordell HJ,Clayton DG

更新日期：2002-01-01 00:00:00

abstract：:Recent studies have suggested that a significant fraction of the human genome is contained in blocks of strong linkage disequilibrium, ranging from ~5 to >100 kb in length, and that within these blocks a few common haplotypes may account for >90% of the observed haplotypes. Furthermore, previous studies have suggested...

journal_title：American journal of human genetics

authors： Crawford DC,Carlson CS,Rieder MJ,Carrington DP,Yi Q,Smith JD,Eberle MA,Kruglyak L,Nickerson DA

更新日期：2004-04-01 00:00:00

abstract：:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tes...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra A

更新日期：1991-03-01 00:00:00

abstract：:Loss-of-heterozygosity (LOH) studies have implicated one or more chromosome 11 tumor-suppressor gene(s) in the development of cutaneous melanoma as well as a variety of other forms of human cancer. In the present study, we have identified multiple independent critical regions on this chromosome by use of homozygosity ...

journal_title：American journal of human genetics

authors： Goldberg EK,Glendening JM,Karanjawala Z,Sridhar A,Walker GJ,Hayward NK,Rice AJ,Kurera D,Tebha Y,Fountain JW

更新日期：2000-08-01 00:00:00

abstract：:Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nucleus, are thus emer...

journal_title：American journal of human genetics

authors： Kumar R,Corbett MA,van Bon BW,Woenig JA,Weir L,Douglas E,Friend KL,Gardner A,Shaw M,Jolly LA,Tan C,Hunter MF,Hackett A,Field M,Palmer EE,Leffler M,Rogers C,Boyle J,Bienek M,Jensen C,Van Buggenhout G,Van Esch H,

更新日期：2015-08-06 00:00:00

abstract：:The sib-pair interval-mapping procedure of Fulker and Cardon is extended to take account of all available marker information on a chromosome simultaneously. The method provides a computationally fast multipoint analysis of sib-pair data, using a modified Haseman-Elston approach. It gives results very similar to those ...

journal_title：American journal of human genetics

authors： Fulker DW,Cherny SS,Cardon LR

更新日期：1995-05-01 00:00:00

abstract：:Eleven normal families with at least four children were studied cytogenetically using the C-band technique to identify polymorphisms in the constitutive heterochromatin of chromosomes 1, 9 and 16. Thirteen individuals showed one or more variants in such chromosomes. The analysis of the segregation ratios in the 35 off...

journal_title：American journal of human genetics

authors： Carnevale A,Ibañez BB,del Castillo V

更新日期：1976-07-01 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 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：: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：:Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We ...

journal_title：American journal of human genetics

authors： Stella A,Resta N,Gentile M,Susca F,Mareni C,Montera MP,Guanti G

更新日期：1993-11-01 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：:We tested 519 chromosome 3-specific cosmids for the presence of rare restriction-endonuclease sites in a search for cosmids containing HTF islands. We have identified 49 cosmids (9% of those tested) that contain multiple rare restriction-endonuclease sites. The cosmids were digested with several common cutting restric...

journal_title：American journal of human genetics

authors： Golembieski WA,Smith SE,Recchia F,Judge A,Shridhar V,Miller OJ,Drabkin H,Smith DI

更新日期：1991-09-01 00:00:00

abstract：:Multiple morphological abnormalities of the sperm flagellum (MMAF) is a severe form of male infertility defined by the presence of a mosaic of anomalies, including short, bent, curled, thick, or absent flagella, resulting from a severe disorganization of the axoneme and of the peri-axonemal structures. Mutations in DN...

journal_title：American journal of human genetics

authors： Kherraf ZE,Amiri-Yekta A,Dacheux D,Karaouzène T,Coutton C,Christou-Kent M,Martinez G,Landrein N,Le Tanno P,Fourati Ben Mustapha S,Halouani L,Marrakchi O,Makni M,Latrous H,Kharouf M,Pernet-Gallay K,Gourabi H,Robinson DR

更新日期：2018-09-06 00:00:00

abstract：:A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. I...

journal_title：American journal of human genetics

authors： Tajima Y,Kawashima I,Tsukimura T,Sugawara K,Kuroda M,Suzuki T,Togawa T,Chiba Y,Jigami Y,Ohno K,Fukushige T,Kanekura T,Itoh K,Ohashi T,Sakuraba H

更新日期：2009-11-01 00:00:00

abstract：:To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of...

journal_title：American journal of human genetics

authors： Grace ME,Berg A,He GS,Goldberg L,Horowitz M,Grabowski GA

更新日期：1991-09-01 00:00:00

abstract：:Age at onset of motor symptoms was collected on 611 persons affected with Huntington disease (HD) among 3,201 persons "at risk" in 108 kindreds. Life-table estimates correcting for truncated intervals of observation (censoring) produced a median age at onset 5 years older than the observed mean. Risk estimates of HD o...

journal_title：American journal of human genetics

authors： Adams P,Falek A,Arnold J

更新日期：1988-11-01 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：:A mutation in transthyretin (TTR Asn 90) has been identified in the Portuguese and German populations. This variant has a lower pI and was found by screening analyses in 2/4,000 German subjects and in 4/1,200 Portuguese by using either double one-dimensional (D1-D) electrophoresis with isoelectric focusing (IEF) or hy...

journal_title：American journal of human genetics

authors： Saraiva MJ,Almeida MR,Alves IL,Moreira P,Gawinowicz M,Costa PP,Rauh S,Banhzoff A,Altland K

更新日期：1991-05-01 00:00:00

abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

journal_title：American journal of human genetics

authors： Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

更新日期：2019-07-03 00:00:00

abstract：:We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regiona...

journal_title：American journal of human genetics

authors： Alves-Silva J,da Silva Santos M,Guimarães PE,Ferreira AC,Bandelt HJ,Pena SD,Prado VF

更新日期：2000-08-01 00:00:00

abstract：:We obtained conclusive linkage of Alzheimer disease (AD) with a candidate region of 19.7 cM at 7q36 in an extended multiplex family, family 1270, ascertained in a population-based study of early-onset AD in the northern Netherlands. Single-nucleotide polymorphism and haplotype association analyses of a Dutch patient-c...

journal_title：American journal of human genetics

authors： Rademakers R,Cruts M,Sleegers K,Dermaut B,Theuns J,Aulchenko Y,Weckx S,De Pooter T,Van den Broeck M,Corsmit E,De Rijk P,Del-Favero J,van Swieten J,van Duijn CM,Van Broeckhoven C

更新日期：2005-10-01 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS types I and II, which show phenotypic overlap and may sometimes be allelic. Type V collagen can exist as a h...

journal_title：American journal of human genetics

authors： Burrows NP,Nicholls AC,Richards AJ,Luccarini C,Harrison JB,Yates JR,Pope FM

更新日期：1998-08-01 00:00:00

abstract：:Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in addit...

journal_title：American journal of human genetics

authors： Radhakrishna U,Bornholdt D,Scott HS,Patel UC,Rossier C,Engel H,Bottani A,Chandal D,Blouin JL,Solanki JV,Grzeschik KH,Antonarakis SE

更新日期：1999-09-01 00:00:00