NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

abstract：:We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes and results in ti...

journal_title：American journal of human genetics

authors： Cuajungco MP,Leyne M,Mull J,Gill SP,Lu W,Zagzag D,Axelrod FB,Maayan C,Gusella JF,Slaugenhaupt SA

更新日期：2003-03-01 00:00:00

abstract：:The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocati...

journal_title：American journal of human genetics

authors： MacKenzie AE,Korneluk RG,Zorzato F,Fujii J,Phillips M,Iles D,Wieringa B,Leblond S,Bailly J,Willard HF

更新日期：1990-06-01 00:00:00

abstract：:Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study rep...

journal_title：American journal of human genetics

authors： Stephens TD,Shepard TH

更新日期：1983-05-01 00:00:00

abstract：:More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown...

journal_title：American journal of human genetics

authors： Sirmaci A,Erbek S,Price J,Huang M,Duman D,Cengiz FB,Bademci G,Tokgöz-Yilmaz S,Hişmi B,Ozdağ H,Oztürk B,Kulaksizoğlu S,Yildirim E,Kokotas H,Grigoriadou M,Petersen MB,Shahin H,Kanaan M,King MC,Chen ZY,Blanton SH,L

更新日期：2010-05-14 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：: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：:Germline mutations of PTEN (phosphatase and tensin homolog deleted on chromosome 10) are associated with the multihamartomatous disorder Cowden syndrome (CS). Moreover, patients with CS with germline PTEN promoter mutations have aberrant PTEN protein expression and an increased frequency of breast cancer. Here, we exa...

journal_title：American journal of human genetics

authors： Teresi RE,Zbuk KM,Pezzolesi MG,Waite KA,Eng C

更新日期：2007-10-01 00:00:00

abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

journal_title：American journal of human genetics

authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

更新日期：1995-12-01 00:00:00

abstract：:The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant ...

journal_title：American journal of human genetics

authors： Bruder CE,Piotrowski A,Gijsbers AA,Andersson R,Erickson S,Diaz de Ståhl T,Menzel U,Sandgren J,von Tell D,Poplawski A,Crowley M,Crasto C,Partridge EC,Tiwari H,Allison DB,Komorowski J,van Ommen GJ,Boomsma DI,Pedersen NL

更新日期：2008-03-01 00:00:00

abstract：:The alkaline phosphatases comprise a multigene enzyme family that hydolyze phosphate esters and are widely distributed in nature. Three main classes have been isolated from humans, the placental, intestinal, and liver/bone/kidney forms. We have mapped the placental and intestinal alkaline phosphatase genes to 2q34-q37...

journal_title：American journal of human genetics

authors： Griffin CA,Smith M,Henthorn PS,Harris H,Weiss MJ,Raducha M,Emanuel BS

更新日期：1987-12-01 00:00:00

abstract：:Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting primarily the cone photoreceptors. The COD1 locus originally was localized, by the study of three independent families, to a region between Xp11.3 and Xp21.1, encompassing the retinitis pigmentosa (RP) 3 locus. We have refined the COD1 locus...

journal_title：American journal of human genetics

authors： Seymour AB,Dash-Modi A,O'Connell JR,Shaffer-Gordon M,Mah TS,Stefko ST,Nagaraja R,Brown J,Kimura AE,Ferrell RE,Gorin MB

更新日期：1998-01-01 00:00:00

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：:Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in thes...

journal_title：American journal of human genetics

authors： Wooderchak-Donahue WL,McDonald J,O'Fallon B,Upton PD,Li W,Roman BL,Young S,Plant P,Fülöp GT,Langa C,Morrell NW,Botella LM,Bernabeu C,Stevenson DA,Runo JR,Bayrak-Toydemir P

更新日期：2013-09-05 00:00:00

abstract：:Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of ...

journal_title：American journal of human genetics

authors： Mathew CG,Thorpe K,Easton DF,Chin KS,Jadayel D,Ponder M,Moore G,Wallis CE,Slater CP,De Jong G

更新日期：1989-01-01 00:00:00

abstract：:Personalized genetic information is not widely utilized as a resource in learning environments, in part because of concerns about data privacy and the treatment of sensitive personal information. Here we describe the implementation of a curriculum centered on analyzing personalized genetic-ancestry test results during...

journal_title：American journal of human genetics

authors： Wright EA,Wagner JK,Shriver MD,Fernandez JR,Jablonski NG

更新日期：2019-02-07 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：:Comparisons are presented of the ages of onset of 20 cases of hereditary medullary carcinoma of the thyroid (MCT) and of 22 sporadic cases of this same type of cancer. These data are compatible with what might be expected by the two-mutational-event theory of the initiation of cancer postulated by Knudson. It had been...

journal_title：American journal of human genetics

authors： Jackson CE,Block MA,Greenawald KA,Tashjian AH Jr

更新日期：1979-11-01 00:00:00

abstract：:The effects of reproductive compensation on an X-linked recessive lethal are examined. Complete compensation without regard to the sex of the offspring increases the incidence of female carriers by a factor of 1.5, and of affected males by 1.33. However, if families reproduce until they have a healthy male offspring, ...

journal_title：American journal of human genetics

authors： Templeton AR,Yokoyama S

更新日期：1980-07-01 00:00:00

abstract：:We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German famili...

journal_title：American journal of human genetics

authors： Schumacher J,Kaneva R,Jamra RA,Diaz GO,Ohlraun S,Milanova V,Lee YA,Rivas F,Mayoral F,Fuerst R,Flaquer A,Windemuth C,Gay E,Sanz S,González MJ,Gil S,Cabaleiro F,del Rio F,Perez F,Haro J,Kostov C,Chorbov V,Nikolo

更新日期：2005-12-01 00:00:00

abstract：:Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectu...

journal_title：American journal of human genetics

authors： Bennett JT,Tan TY,Alcantara D,Tétrault M,Timms AE,Jensen D,Collins S,Nowaczyk MJM,Lindhurst MJ,Christensen KM,Braddock SR,Brandling-Bennett H,Hennekam RCM,Chung B,Lehman A,Su J,Ng S,Amor DJ,University of Washington Ce

更新日期：2016-03-03 00:00:00

abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

journal_title：American journal of human genetics

authors： Liu J,Liu Y,Liu X,Deng HW

更新日期：2007-08-01 00:00:00

abstract：:We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) o...

journal_title：American journal of human genetics

authors： Tambor ES,Bernhardt BA,Chase GA,Faden RR,Geller G,Hofman KJ,Holtzman NA

更新日期：1994-10-01 00:00:00

abstract：:Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in night blindness, visual field loss, an abnormal electroretinogram, and characteristic retinal pigmentary changes. An important step in the understanding of RP has been the recognition that some...

journal_title：American journal of human genetics

authors： Sheffield VC,Fishman GA,Beck JS,Kimura AE,Stone EM

更新日期：1991-10-01 00:00:00

abstract：:Patients with a strong family history of breast cancer are often counseled to receive genetic screening for BRCA1 and BRCA2 mutations, the strongest known predictors of breast cancer. A major limitation of genetic testing is the number of inconclusive results due to unclassified BRCA1 and BRCA2 sequence variants. Many...

journal_title：American journal of human genetics

authors： Fackenthal JD,Cartegni L,Krainer AR,Olopade OI

更新日期：2002-09-01 00:00:00

abstract：:In this report, we describe a simple correction for multiple testing of single-nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with each other, on the basis of the spectral decomposition (SpD) of matrices of pairwise LD between SNPs. This method provides a useful alternative to more computationally inte...

journal_title：American journal of human genetics

authors： Nyholt DR

更新日期：2004-04-01 00:00:00

abstract：:Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appe...

journal_title：American journal of human genetics

authors： Twigg SR,Matsumoto K,Kidd AM,Goriely A,Taylor IB,Fisher RB,Hoogeboom AJ,Mathijssen IM,Lourenco MT,Morton JE,Sweeney E,Wilson LC,Brunner HG,Mulliken JB,Wall SA,Wilkie AO

更新日期：2006-06-01 00:00:00

abstract：:The study of recent natural selection in human populations has important applications to human history and medicine. Positive natural selection drives the increase in beneficial alleles and plays a role in explaining diversity across human populations. By discovering traits subject to positive selection, we can better...

journal_title：American journal of human genetics

authors： Bhatia G,Patterson N,Pasaniuc B,Zaitlen N,Genovese G,Pollack S,Mallick S,Myers S,Tandon A,Spencer C,Palmer CD,Adeyemo AA,Akylbekova EL,Cupples LA,Divers J,Fornage M,Kao WH,Lange L,Li M,Musani S,Mychaleckyj JC,Og

更新日期：2011-09-09 00:00:00

abstract：:Increased male prevalence has been repeatedly reported in several neurodevelopmental disorders (NDs), leading to the concept of a "female protective model." We investigated the molecular basis of this sex-based difference in liability and demonstrated an excess of deleterious autosomal copy-number variants (CNVs) in f...

journal_title：American journal of human genetics

authors： Jacquemont S,Coe BP,Hersch M,Duyzend MH,Krumm N,Bergmann S,Beckmann JS,Rosenfeld JA,Eichler EE

更新日期：2014-03-06 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：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...

journal_title：American journal of human genetics

authors： Ikeda H,Sasaki T,Yoshimoto T,Fukui M,Arinami T

更新日期：1999-02-01 00:00:00