Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

abstract：:Results are presented on chromosome analyses made on 4,481 embryos or fetuses studied through chorionic villus sampling (CVS) in whom there was no known bias to presence of a chromosome abnormality except advanced parental age. We excluded from the analysis most cases in which mosaicism was diagnosed or in which there...

journal_title：American journal of human genetics

authors： Hook EB,Cross PK,Jackson L,Pergament E,Brambati B

更新日期：1988-06-01 00:00:00

abstract：:Arthrogryposis multiplex congenita (AMC) is characterized by the presence of multiple joint contractures resulting from reduced or absent fetal movement. Here, we report two unrelated families affected by lethal AMC. By genetic mapping and whole-exome sequencing in a multiplex family, a heterozygous truncating MAGEL2 ...

journal_title：American journal of human genetics

authors： Mejlachowicz D,Nolent F,Maluenda J,Ranjatoelina-Randrianaivo H,Giuliano F,Gut I,Sternberg D,Laquerrière A,Melki J

更新日期：2015-10-01 00:00:00

abstract：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

journal_title：American journal of human genetics

authors： Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

更新日期：1996-09-01 00:00:00

abstract：:At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-d...

journal_title：American journal of human genetics

authors： Verlaan DJ,Siegel AM,Rouleau GA

更新日期：2002-06-01 00:00:00

abstract：:Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations...

journal_title：American journal of human genetics

authors： Aksentijevich I,Torosyan Y,Samuels J,Centola M,Pras E,Chae JJ,Oddoux C,Wood G,Azzaro MP,Palumbo G,Giustolisi R,Pras M,Ostrer H,Kastner DL

更新日期：1999-04-01 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：: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：:Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of ge...

journal_title：American journal of human genetics

authors： Starita LM,Ahituv N,Dunham MJ,Kitzman JO,Roth FP,Seelig G,Shendure J,Fowler DM

更新日期：2017-09-07 00:00:00

abstract：:Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

journal_title：American journal of human genetics

authors： Goodman FR,Majewski F,Collins AL,Scambler PJ

更新日期：2002-02-01 00:00:00

abstract：:Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to...

journal_title：American journal of human genetics

authors： Timms AE,Crane AM,Sims AM,Cordell HJ,Bradbury LA,Abbott A,Coyne MR,Beynon O,Herzberg I,Duff GW,Calin A,Cardon LR,Wordsworth BP,Brown MA

更新日期：2004-10-01 00:00:00

abstract：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

journal_title：American journal of human genetics

authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

更新日期：2000-04-01 00:00:00

abstract：:To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families containing at least two cases of epithelial ovarian cancer. Germline mutations were found in 43% of the families; BRCA1...

journal_title：American journal of human genetics

authors： Gayther SA,Russell P,Harrington P,Antoniou AC,Easton DF,Ponder BA

更新日期：1999-10-01 00:00:00

abstract：:Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more res...

journal_title：American journal of human genetics

authors： Kaukonen JA,Amati P,Suomalainen A,Rötig A,Piscaglia MG,Salvi F,Weissenbach J,Fratta G,Comi G,Peltonen L,Zeviani M

更新日期：1996-04-01 00:00:00

abstract：:The mean and standard deviation of the first arrival time for a single mutant to reach a certain frequency and the mean age of a mutant persisting in a population have been studied using diffusion methods. These quantities are shown to be highly dependent on both the heterozygous effect and the population size. For pa...

journal_title：American journal of human genetics

authors： Li WH

更新日期：1975-05-01 00:00:00

abstract：:The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous rel...

journal_title：American journal of human genetics

authors： Taschner PE,de Vos N,Thompson AD,Callen DF,Doggett N,Mole SE,Dooley TP,Barth PG,Breuning MH

更新日期：1995-03-01 00:00:00

abstract：:Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with childhood onset...

journal_title：American journal of human genetics

authors： Chan RWY,Serpas L,Ni M,Volpi S,Hiraki LT,Tam LS,Rashidfarrokhi A,Wong PCH,Tam LHP,Wang Y,Jiang P,Cheng ASH,Peng W,Han DSC,Tse PPP,Lau PK,Lee WS,Magnasco A,Buti E,Sisirak V,AlMutairi N,Chan KCA,Chiu RWK,Reizi

更新日期：2020-11-05 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypica...

journal_title：American journal of human genetics

authors： Luscan R,Mechaussier S,Paul A,Tian G,Gérard X,Defoort-Dellhemmes S,Loundon N,Audo I,Bonnin S,LeGargasson JF,Dumont J,Goudin N,Garfa-Traoré M,Bras M,Pouliet A,Bessières B,Boddaert N,Sahel JA,Lyonnet S,Kaplan J,Cowa

更新日期：2017-12-07 00:00:00

abstract：:Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclea...

journal_title：American journal of human genetics

authors： Ogdie MN,Macphie IL,Minassian SL,Yang M,Fisher SE,Francks C,Cantor RM,McCracken JT,McGough JJ,Nelson SF,Monaco AP,Smalley SL

更新日期：2003-05-01 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：:A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion m...

journal_title：American journal of human genetics

authors： McDowell GA,Mules EH,Fabacher P,Shapira E,Blitzer MG

更新日期：1992-11-01 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：:The genetic linkage of the loci for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase (ESD) were examined by two-dimensional gel electrophoresis using blood from four informative families. No recombinants were observed in the four families totaling 17 children, giving a summed lod scor...

journal_title：American journal of human genetics

authors： Kondo I,Hamaguchi H

更新日期：1985-11-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene ...

journal_title：American journal of human genetics

authors： Abalkhail H,Mitchell J,Habgood J,Orrell R,de Belleroche J

更新日期：2003-08-01 00:00:00

abstract：:As genetic maps become denser, the effect of laboratory typing errors becomes more serious. We review a general method for detecting errors in pedigree genotyping data that is a variant of the likelihood-ratio test statistic. It pinpoints individuals and loci with relatively unlikely genotypes. Power and significance ...

journal_title：American journal of human genetics

authors： Ehm MG,Kimmel M,Cottingham RW Jr

更新日期：1996-01-01 00:00:00

abstract：:Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human ...

journal_title：American journal of human genetics

authors： Ledley FD,Lumetta MR,Zoghbi HY,VanTuinen P,Ledbetter SA,Ledbetter DH

更新日期：1988-06-01 00:00:00

abstract：:Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (...

journal_title：American journal of human genetics

authors： Weedon MN,Hastings R,Caswell R,Xie W,Paszkiewicz K,Antoniadi T,Williams M,King C,Greenhalgh L,Newbury-Ecob R,Ellard S

更新日期：2011-08-12 00:00:00

abstract：:Although recent studies provide evidence for a common genetic basis between complex traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-specific manner remains elusive. Here, we have quantified the overlap of genes identified through large-scale genome-wide association studies (GW...

journal_title：American journal of human genetics

authors： Freund MK,Burch KS,Shi H,Mancuso N,Kichaev G,Garske KM,Pan DZ,Miao Z,Mohlke KL,Laakso M,Pajukanta P,Pasaniuc B,Arboleda VA

更新日期：2018-10-04 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：:Recombination rates vary both across the genome and between different species, but little information is available about the temporal and physical scales over which such rates change. To shed light on these questions, we performed a high-resolution analysis of a genomic region within the beta-globin gene cluster that ...

journal_title：American journal of human genetics

authors： Wall JD,Frisse LA,Hudson RR,Di Rienzo A

更新日期：2003-12-01 00:00:00

abstract：:Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has...

journal_title：American journal of human genetics

authors： Michot C,Le Goff C,Goldenberg A,Abhyankar A,Klein C,Kinning E,Guerrot AM,Flahaut P,Duncombe A,Baujat G,Lyonnet S,Thalassinos C,Nitschke P,Casanova JL,Le Merrer M,Munnich A,Cormier-Daire V

更新日期：2012-04-06 00:00:00