Importance sampling. I. Computing multimodel p values in linkage analysis.

abstract：:We performed a genomewide linkage analysis of six separate measurements of body mass index (BMI) taken over a span of 28 years, from 1971 to 1998, in the Framingham Heart Study. Variance-components linkage analysis was performed on 330 families, using 401 polymorphic markers. The number of individuals with data at eac...

journal_title：American journal of human genetics

authors： Atwood LD,Heard-Costa NL,Cupples LA,Jaquish CE,Wilson PW,D'Agostino RB

更新日期：2002-11-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive con...

journal_title：American journal of human genetics

authors： Zhou J,Tawk M,Tiziano FD,Veillet J,Bayes M,Nolent F,Garcia V,Servidei S,Bertini E,Castro-Giner F,Renda Y,Carpentier S,Andrieu-Abadie N,Gut I,Levade T,Topaloglu H,Melki J

更新日期：2012-07-13 00:00:00

abstract：:Apolipoprotein J (apo J) is a newly identified member of a growing family of proteins associated with various lipoprotein particles. Apo J is a glycoprotein which exists in the plasma associated with high-density lipoprotein subfractions which also contain apo A-I and cholesteryl ester transfer protein (CETP). We have...

journal_title：American journal of human genetics

authors： Kamboh MI,Harmony JA,Sepehrnia B,Nwankwo M,Ferrell RE

更新日期：1991-12-01 00:00:00

abstract：:Integration of detailed phenotype information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately and efficiently extr...

journal_title：American journal of human genetics

authors： Son JH,Xie G,Yuan C,Ena L,Li Z,Goldstein A,Huang L,Wang L,Shen F,Liu H,Mehl K,Groopman EE,Marasa M,Kiryluk K,Gharavi AG,Chung WK,Hripcsak G,Friedman C,Weng C,Wang K

更新日期：2018-07-05 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：:Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

journal_title：American journal of human genetics

authors： Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

更新日期：2012-01-13 00:00:00

abstract：:While genetic causes are known for many syndromes involving developmental anomalies, a large number of individuals with overlapping phenotypes remain undiagnosed. Using exome-sequencing analysis and review of matchmaker databases, we have discovered four de novo missense variants predicted to affect the N-terminal reg...

journal_title：American journal of human genetics

authors： Reis LM,Sorokina EA,Thompson S,Muheisen S,Velinov M,Zamora C,Aylsworth AS,Semina EV

更新日期：2019-08-01 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：:With the imminent availability of ultra-high-volume genotyping platforms (on the order of 100,000-1,000,000 genotypes per sample) at a manageable cost, there is growing interest in the possibility of conducting genomewide association studies for a variety of diseases but, so far, little consensus on methods to design ...

journal_title：American journal of human genetics

authors： Thomas DC,Haile RW,Duggan D

更新日期：2005-09-01 00:00:00

abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...

journal_title：American journal of human genetics

authors： Dougherty MJ

更新日期：2009-07-01 00:00:00

abstract：:Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we rep...

journal_title：American journal of human genetics

authors： Antonellis A,Ellsworth RE,Sambuughin N,Puls I,Abel A,Lee-Lin SQ,Jordanova A,Kremensky I,Christodoulou K,Middleton LT,Sivakumar K,Ionasescu V,Funalot B,Vance JM,Goldfarb LG,Fischbeck KH,Green ED

更新日期：2003-05-01 00:00:00

abstract：:Disordered mitochondrial metabolism may play an important role in a number of idiopathic neurodegenerative disorders. The question of mitochondrial dysfunction is particularly attractive in the case of idiopathic Parkinson disease (PD), since Vyas et al. recognized in the 1980s that the parkinsonism-inducing compound ...

journal_title：American journal of human genetics

authors： Parker WD Jr,Swerdlow RH

更新日期：1998-04-01 00:00:00

abstract：:Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a...

journal_title：American journal of human genetics

authors： Rees JL

更新日期：2004-11-01 00:00:00

abstract：:Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth ...

journal_title：American journal of human genetics

authors： Valente EM,Salpietro DC,Brancati F,Bertini E,Galluccio T,Tortorella G,Briuglia S,Dallapiccola B

更新日期：2003-09-01 00:00:00

abstract：:EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

journal_title：American journal of human genetics

authors： Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

更新日期：2017-02-02 00:00:00

abstract：:The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availabilit...

journal_title：American journal of human genetics

authors： Hunter-Zinck H,Shi Y,Li M,Gorman BR,Ji SG,Sun N,Webster T,Liem A,Hsieh P,Devineni P,Karnam P,Gong X,Radhakrishnan L,Schmidt J,Assimes TL,Huang J,Pan C,Humphries D,Brophy M,Moser J,Muralidhar S,Huang GD,Przygod

更新日期：2020-04-02 00:00:00

abstract：:Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for mul...

journal_title：American journal of human genetics

authors： Kim HG,Kim HT,Leach NT,Lan F,Ullmann R,Silahtaroglu A,Kurth I,Nowka A,Seong IS,Shen Y,Talkowski ME,Ruderfer D,Lee JH,Glotzbach C,Ha K,Kjaergaard S,Levin AV,Romeike BF,Kleefstra T,Bartsch O,Elsea SH,Jabs EW,Mac

更新日期：2012-07-13 00:00:00

abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...

journal_title：American journal of human genetics

authors： Kitagawa T,Owada M,Sakiyama T,Aoki K,Kamoshita S,Amenomori Y,Kobayashi T

更新日期：1978-05-01 00:00:00

abstract：:Down syndrome is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors...

journal_title：American journal of human genetics

authors： Hobbs CA,Sherman SL,Yi P,Hopkins SE,Torfs CP,Hine RJ,Pogribna M,Rozen R,James SJ

更新日期：2000-09-01 00:00:00

abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

journal_title：American journal of human genetics

authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

更新日期：2007-04-01 00:00:00

abstract：:A clinical description of an apparently classical case of type 1 GM1 gangliosidosis is presented. The patient was the first-born child of first cousins. She was diagnosed at 6 weeks and died at 6 months. beta-Galactosidase activity was deficient in cultured fibroblasts using [3H]GM1 ganglioside and [3H]ceramide-lactos...

journal_title：American journal of human genetics

authors： Gravel RA,Lowden JA,Callahan JW,Wolfe LS,Ng Yin Kin NM

更新日期：1979-11-01 00:00:00

abstract：:Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used s...

journal_title：American journal of human genetics

authors： Jenne DE,Tinschert S,Reimann H,Lasinger W,Thiel G,Hameister H,Kehrer-Sawatzki H

更新日期：2001-09-01 00:00:00

abstract：:Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomer...

journal_title：American journal of human genetics

authors： Savage SA,Giri N,Baerlocher GM,Orr N,Lansdorp PM,Alter BP

更新日期：2008-02-01 00:00:00

abstract：:A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have det...

journal_title：American journal of human genetics

authors： Ding JH,Yang BZ,Bao Y,Roe CR,Chen YT

更新日期：1992-01-01 00:00:00

abstract：:Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric aci...

journal_title：American journal of human genetics

authors： Goodman SI,Gallegos DA,Pullin CJ,Halpern B,Truscott RJ,Wise G,Wilcken B,Ryan ED,Whelen DT

更新日期：1980-09-01 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：:We extend the methodology for family-based tests of association and linkage to allow for both variation in the phenotypes of subjects and incorporation of covariates into general-score tests of association. We use standard association models for a phenotype and any number of predictors. We then construct a score stati...

journal_title：American journal of human genetics

authors： Lunetta KL,Faraone SV,Biederman J,Laird NM

更新日期：2000-02-01 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：:In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study subjects is used in the actual analysis of the trait, and much of the phenotypic data is ignored. With proper consent, these...

journal_title：American journal of human genetics

authors： Perola M,Ohman M,Hiekkalinna T,Leppävuori J,Pajukanta P,Wessman M,Koskenvuo M,Palotie A,Lange K,Kaprio J,Peltonen L

更新日期：2001-07-01 00:00:00

abstract：:A convenient and reliable method for simulatneous visualization of silver staining (Ag-NOR) of the nucleolus organizers and fluorescent bandings in metaphase chromosomes is described. Studies employing this combined procedure on human chromosomes revealed that the Ag-NOR patterns may be characteristic for each chromos...

journal_title：American journal of human genetics

authors： Lau YF,Pfeiffer RA,Arrighi FE,Hsu TC

更新日期：1978-01-01 00:00:00