Parental trisomy 21 mosaicism.

abstract：:The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy (DM). Six APOC2 RFLPs (TaqI, BglI, BanI, BamHI, NcoI, and AvaII) have been identified to date. We have conducted a com...

journal_title：American journal of human genetics

authors： MacKenzie AE,MacLeod HL,Hunter AG,Korneluk RG

更新日期：1989-01-01 00:00:00

abstract：:Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population...

journal_title：American journal of human genetics

authors： He Z,Zhang D,Renton AE,Li B,Zhao L,Wang GT,Goate AM,Mayeux R,Leal SM

更新日期：2017-02-02 00:00:00

abstract：:We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes. ...

journal_title：American journal of human genetics

authors： Brown DT,Samuels DC,Michael EM,Turnbull DM,Chinnery PF

更新日期：2001-02-01 00:00:00

abstract：:The central challenges in tumor sequencing studies is to identify driver genes and pathways, investigate their functional relationships, and nominate drug targets. The efficiency of these analyses, particularly for infrequently mutated genes, is compromised when subjects carry different combinations of driver mutation...

journal_title：American journal of human genetics

authors： Hua X,Hyland PL,Huang J,Song L,Zhu B,Caporaso NE,Landi MT,Chatterjee N,Shi J

更新日期：2016-03-03 00:00:00

abstract：:To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the dis...

journal_title：American journal of human genetics

authors： Génin E,Clerget-Darpoux F

更新日期：1996-04-01 00:00:00

abstract：:SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes ...

journal_title：American journal of human genetics

authors： Tolchin D,Yeager JP,Prasad P,Dorrani N,Russi AS,Martinez-Agosto JA,Haseeb A,Angelozzi M,Santen GWE,Ruivenkamp C,Mercimek-Andrews S,Depienne C,Kuechler A,Mikat B,Ludecke HJ,Bilan F,Le Guyader G,Gilbert-Dussardier B,Ker

更新日期：2020-06-04 00:00:00

abstract：:Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibil...

journal_title：American journal of human genetics

authors： Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes V

更新日期：1996-05-01 00:00:00

abstract：:Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidos...

journal_title：American journal of human genetics

authors： Jacobson DR,Reveille JD,Buxbaum JN

更新日期：1991-07-01 00:00:00

abstract：:A novel type IV collagen, alpha 3(IV), has recently been identified in human and bovine basement membranes. Here we describe the cloning and sequencing of a cDNA encoding 218 residues of the NC1 domain of the human alpha 3(IV) chain. Of interest is the possible role of abnormalities of the alpha 3(IV) chain in Alport ...

journal_title：American journal of human genetics

authors： Morrison KE,Mariyama M,Yang-Feng TL,Reeders ST

更新日期：1991-09-01 00:00:00

abstract：:Recent studies suggest that hereditary prostate cancer is a complex disease involving multiple susceptibility genes and variable phenotypic expression. While conducting a genomewide search on 162 North American families with > or =3 members affected with prostate cancer (PRCA), we found evidence for linkage to chromos...

journal_title：American journal of human genetics

authors： Berry R,Schroeder JJ,French AJ,McDonnell SK,Peterson BJ,Cunningham JM,Thibodeau SN,Schaid DJ

更新日期：2000-07-01 00:00:00

abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...

journal_title：American journal of human genetics

authors： Schutte M,Seal S,Barfoot R,Meijers-Heijboer H,Wasielewski M,Evans DG,Eccles D,Meijers C,Lohman F,Klijn J,van den Ouweland A,Futreal PA,Nathanson KL,Weber BL,Easton DF,Stratton MR,Rahman N,Breast Cancer Linkage Consortiu

更新日期：2003-04-01 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：: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：:Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway...

journal_title：American journal of human genetics

authors： Panagiotou ES,Sanjurjo Soriano C,Poulter JA,Lord EC,Dzulova D,Kondo H,Hiyoshi A,Chung BH,Chu YW,Lai CHY,Tafoya ME,Karjosukarso D,Collin RWJ,Topping J,Downey LM,Ali M,Inglehearn CF,Toomes C

更新日期：2017-06-01 00:00:00

abstract：:Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. ...

journal_title：American journal of human genetics

authors： Rahimi AG,Goedde HW,Flatz G,Kaifie S,Benkmann HG,Delbrück H

更新日期：1977-07-01 00:00:00

abstract：:In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed w...

journal_title：American journal of human genetics

authors： Le Caignec C,Lefevre M,Schott JJ,Chaventre A,Gayet M,Calais C,Moisan JP

更新日期：2002-07-01 00:00:00

abstract：:Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recent...

journal_title：American journal of human genetics

authors： Shete S,Amos CI

更新日期：2002-03-01 00:00:00

abstract：:Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the othe...

journal_title：American journal of human genetics

authors： Ogilvie DJ,Wordsworth BP,Priestley LM,Dalgleish R,Schmidtke J,Zoll B,Sykes BC

更新日期：1987-12-01 00:00:00

abstract：:Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test for association with low HDL-C by using a regional-tag SNP strategy. We identified one SNP, rs2548861, in the WW-domain-containing oxidoreductase (WWOX) gene ...

journal_title：American journal of human genetics

authors： Lee JC,Weissglas-Volkov D,Kyttälä M,Dastani Z,Cantor RM,Sobel EM,Plaisier CL,Engert JC,van Greevenbroek MM,Kane JP,Malloy MJ,Pullinger CR,Huertas-Vazquez A,Aguilar-Salinas CA,Tusie-Luna T,de Bruin TW,Aouizerat BE,van de

更新日期：2008-08-01 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：:Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...

journal_title：American journal of human genetics

authors： Martin ER,Monks SA,Warren LL,Kaplan NL

更新日期：2000-07-01 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：:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsen...

journal_title：American journal of human genetics

authors： Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

更新日期：2006-12-01 00:00:00

abstract：:DNA length polymorphism in the 5'-flanking region of the human insulin gene has been reported by Bell et al. (1981), Rotwein et al. (1981), and Owerbach and Nerup (1982). Bgl I digestions of human DNA that have been hybridized to an insulin probe using the Southern technique shows that there are two distinct groups of...

journal_title：American journal of human genetics

authors： Yokoyama S

更新日期：1983-03-01 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：:Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyse...

journal_title：American journal of human genetics

authors： Kichaev G,Bhatia G,Loh PR,Gazal S,Burch K,Freund MK,Schoech A,Pasaniuc B,Price AL

更新日期：2019-01-03 00:00:00

abstract：:We have devised a zymogram method with high sensitivity and resolution for investigating molecular heterogeneity and genetic polymorphism of deoxyribonuclease I. A combination technique of polyacrylamide-gel isoelectric-focusing electrophoresis and the newly developed zymogram method have led to the discovery of genet...

journal_title：American journal of human genetics

authors： Kishi K,Yasuda T,Ikehara Y,Sawazaki K,Sato W,Iida R

更新日期：1990-07-01 00:00:00

abstract：:Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the dise...

journal_title：American journal of human genetics

authors： Simonaro CM,Park JH,Eliyahu E,Shtraizent N,McGovern MM,Schuchman EH

更新日期：2006-05-01 00:00:00

abstract：:Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 5...

journal_title：American journal of human genetics

authors： Wallis GA,Starman BJ,Zinn AB,Byers PH

更新日期：1990-06-01 00:00:00

abstract：:Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We analyzed all centromere regions to identify the junction between the unique chromosome arm and the pericentromeric repeats. A molecular-ruler clone panel for each chromosome...

journal_title：American journal of human genetics

authors： Baldwin EL,May LF,Justice AN,Martin CL,Ledbetter DH

更新日期：2008-02-01 00:00:00