Risk of chromosomal abnormalities, with emphasis on live-born offspring of young mothers.

abstract：:The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the N...

journal_title：American journal of human genetics

authors： Shields GF,Hecker K,Voevoda MI,Reed JK

更新日期：1992-04-01 00:00:00

abstract：:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional a...

journal_title：American journal of human genetics

authors： Sanna-Cherchi S,Khan K,Westland R,Krithivasan P,Fievet L,Rasouly HM,Ionita-Laza I,Capone VP,Fasel DA,Kiryluk K,Kamalakaran S,Bodria M,Otto EA,Sampson MG,Gillies CE,Vega-Warner V,Vukojevic K,Pediaditakis I,Makar GS,M

更新日期：2017-11-02 00:00:00

abstract：:Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is precisely controlled to guarantee efficient compaction of the genome and proper chromosomal segregation during cell division and to accomplish DNA replication, transcription, and repair. Due to the important structural and regulatory rol...

journal_title：American journal of human genetics

authors： Flex E,Martinelli S,Van Dijck A,Ciolfi A,Cecchetti S,Coluzzi E,Pannone L,Andreoli C,Radio FC,Pizzi S,Carpentieri G,Bruselles A,Catanzaro G,Pedace L,Miele E,Carcarino E,Ge X,Chijiwa C,Lewis MES,Meuwissen M,Kenis S

更新日期：2019-09-05 00:00:00

abstract：:Genome regions containing multiple copies of homologous genes, such as the immunoglobulin (Ig) heavy-chain constant-region (IGHC) locus, are often unstable and give rise to duplicated and deleted haplotypes. Analysis of such processes is fundamental to understanding the mechanisms of evolution of multigene families. I...

journal_title：American journal of human genetics

authors： Bottaro A,Cariota U,DeMarchi M,Carbonara AO

更新日期：1991-04-01 00:00:00

abstract：:To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality thresholds, data from 4,506 markers in 2,692 individuals were included ...

journal_title：American journal of human genetics

authors： Sawcer S,Ban M,Maranian M,Yeo TW,Compston A,Kirby A,Daly MJ,De Jager PL,Walsh E,Lander ES,Rioux JD,Hafler DA,Ivinson A,Rimmler J,Gregory SG,Schmidt S,Pericak-Vance MA,Akesson E,Hillert J,Datta P,Oturai A,Ryder L

更新日期：2005-09-01 00:00:00

abstract：:To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region s...

journal_title：American journal of human genetics

authors： Palanichamy MG,Sun C,Agrawal S,Bandelt HJ,Kong QP,Khan F,Wang CY,Chaudhuri TK,Palla V,Zhang YP

更新日期：2004-12-01 00:00:00

abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...

journal_title：American journal of human genetics

authors： Yoshida K,Oshima A,Shimmoto M,Fukuhara Y,Sakuraba H,Yanagisawa N,Suzuki Y

更新日期：1991-08-01 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：:Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause neurodevelopmental disorders (NDDs). Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hand...

journal_title：American journal of human genetics

authors： Nixon KCJ,Rousseau J,Stone MH,Sarikahya M,Ehresmann S,Mizuno S,Matsumoto N,Miyake N,DDD Study.,Baralle D,McKee S,Izumi K,Ritter AL,Heide S,Héron D,Depienne C,Titheradge H,Kramer JM,Campeau PM

更新日期：2019-04-04 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：:Palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11 at the constitutional t(11;22) breakpoint are predicted to induce genomic instability, which mediates the translocation. A PCR-based translocation-detection system for the t(11;22) has been developed with PCR primers flanking the PATRRs of both chromo...

journal_title：American journal of human genetics

authors： Kurahashi H,Shaikh TH,Zackai EH,Celle L,Driscoll DA,Budarf ML,Emanuel BS

更新日期：2000-09-01 00:00:00

abstract：:We demonstrate that satellite III (SatIII) DNA subfamilies cloned from human acrocentric chromosomes arose in the Hominoidea superfamily. Two groups, distinguished by sequence composition, evolved nonconcurrently, with group 2 evolving 16-23 million years ago (MYA) and the more recent group 1 sequences emerging approx...

journal_title：American journal of human genetics

authors： Jarmuz M,Glotzbach CD,Bailey KA,Bandyopadhyay R,Shaffer LG

更新日期：2007-03-01 00:00:00

abstract：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...

journal_title：American journal of human genetics

authors： Ganczakowski M,Town M,Bowden DK,Vulliamy TJ,Kaneko A,Clegg JB,Weatherall DJ,Luzzatto L

更新日期：1995-01-01 00:00:00

abstract：:Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals w...

journal_title：American journal of human genetics

authors： Assoum M,Philippe C,Isidor B,Perrin L,Makrythanasis P,Sondheimer N,Paris C,Douglas J,Lesca G,Antonarakis S,Hamamy H,Jouan T,Duffourd Y,Auvin S,Saunier A,Begtrup A,Nowak C,Chatron N,Ville D,Mireskandari K,Milani P

更新日期：2016-12-01 00:00:00

abstract：:Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relati...

journal_title：American journal of human genetics

authors： So HC,Kwan JS,Cherny SS,Sham PC

更新日期：2011-05-13 00:00:00

abstract：:Although the use of model systems for studying the mechanism of mutations that have a large effect is common, we highlight here the ways that zebrafish-model-system studies of a gene, GRIK5, that contributes to the polygenic liability to develop eye diseases have helped to illuminate a mechanism that implicates vascul...

journal_title：American journal of human genetics

authors： Unlu G,Gamazon ER,Qi X,Levic DS,Bastarache L,Denny JC,Roden DM,Mayzus I,Breyer M,Zhong X,Konkashbaev AI,Rzhetsky A,Knapik EW,Cox NJ

更新日期：2019-03-07 00:00:00

abstract：:Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in...

journal_title：American journal of human genetics

authors： Lewis RA,Shroyer NF,Singh N,Allikmets R,Hutchinson A,Li Y,Lupski JR,Leppert M,Dean M

更新日期：1999-02-01 00:00:00

abstract：:Microsatellites are a major type of molecular markers in genetics studies. Their mutational dynamics are not clear. We investigated the patterns and characteristics of 97 mutation events unambiguously identified, from 53 multigenerational pedigrees with 630 subjects, at 362 autosomal dinucleotide microsatellite loci. ...

journal_title：American journal of human genetics

authors： Huang QY,Xu FH,Shen H,Deng HY,Liu YJ,Liu YZ,Li JL,Recker RR,Deng HW

更新日期：2002-03-01 00:00:00

abstract：:Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholeste...

journal_title：American journal of human genetics

authors： Ludwig EH,McCarthy BJ

更新日期：1990-10-01 00:00:00

abstract：:A collection of 1,069 human PCR-based genetic markers has been developed, and their distribution over the 22 autosomes and the X chromosome has been determined. Each marker was developed around a short-tandem-repeat DNA sequence. The majority (85%) of the markers described here were selected to contain tetranucleotide...

journal_title：American journal of human genetics

authors：

更新日期：1995-09-01 00:00:00

abstract：:We recently reported a two-stage genomewide screen of 48 sib pairs affected with intracranial aneurysms (IAs) that revealed suggestive linkage to chromosome 19q13, with a LOD score of 2.58. The region supporting linkage spanned approximately 22 cM. Here, we report a follow-up study of the locus at 19q13, with a sample...

journal_title：American journal of human genetics

authors： van der Voet M,Olson JM,Kuivaniemi H,Dudek DM,Skunca M,Ronkainen A,Niemelä M,Jääskeläinen J,Hernesniemi J,Helin K,Leinonen E,Biswas M,Tromp G

更新日期：2004-03-01 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：:Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of tumor aggressivenes...

journal_title：American journal of human genetics

authors： Slager SL,Schaid DJ,Cunningham JM,McDonnell SK,Marks AF,Peterson BJ,Hebbring SJ,Anderson S,French AJ,Thibodeau SN

更新日期：2003-03-01 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：:Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein...

journal_title：American journal of human genetics

authors： Loges NT,Olbrich H,Becker-Heck A,Häffner K,Heer A,Reinhard C,Schmidts M,Kispert A,Zariwala MA,Leigh MW,Knowles MR,Zentgraf H,Seithe H,Nürnberg G,Nürnberg P,Reinhardt R,Omran H

更新日期：2009-12-01 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：:The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neurodegenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical features in common with tho...

journal_title：American journal of human genetics

authors： Cancel G,Abbas N,Stevanin G,Dürr A,Chneiweiss H,Néri C,Duyckaerts C,Penet C,Cann HM,Agid Y

更新日期：1995-10-01 00:00:00

abstract：:In the present work, we demonstrate the possibility of using human blood platelets as mitochondrial donors for the repopulation of mtDNA-less (rho 0) cells. The noninvasive nature of platelet isolation, combined with the prolonged viability of platelet mitochondria and the simplicity and efficiency of the mitochondria...

journal_title：American journal of human genetics

authors： Chomyn A,Lai ST,Shakeley R,Bresolin N,Scarlato G,Attardi G

更新日期：1994-06-01 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：:The AIMilano apoprotein variant is associated with a marked reduction of high density lipoprotein (HDL) cholesterol levels and with increased triglyceridemia. In spite of the low HDL-cholesterol (HDL-Ch), carriers do not generally show clinical signs of atherosclerosis. The biochemical disorder is linked to a molecula...

journal_title：American journal of human genetics

authors： Gualandri V,Franceschini G,Sirtori CR,Gianfranceschi G,Orsini GB,Cerrone A,Menotti A

更新日期：1985-11-01 00:00:00