Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

abstract：:Eleven normal families with at least four children were studied cytogenetically using the C-band technique to identify polymorphisms in the constitutive heterochromatin of chromosomes 1, 9 and 16. Thirteen individuals showed one or more variants in such chromosomes. The analysis of the segregation ratios in the 35 off...

journal_title：American journal of human genetics

authors： Carnevale A,Ibañez BB,del Castillo V

更新日期：1976-07-01 00:00:00

abstract：:Neuroblastoma is a cancer of the developing sympathetic nervous system. It is diagnosed in 600-700 children per year in the United States and accounts for 12% of pediatric cancer deaths. Despite recent advances in our understanding of this malignancy's complex genetic architecture, the contribution of rare germline va...

journal_title：American journal of human genetics

authors： Egolf LE,Vaksman Z,Lopez G,Rokita JL,Modi A,Basta PV,Hakonarson H,Olshan AF,Diskin SJ

更新日期：2019-09-05 00:00:00

abstract：:Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A g...

journal_title：American journal of human genetics

authors： Roume J,Genin E,Cormier-Daire V,Ma HW,Mehaye B,Attie T,Razavi-Encha F,Fallet-Bianco C,Buenerd A,Clerget-Darpoux F,Munnich A,Le Merrer M

更新日期：1998-10-01 00:00:00

abstract：:An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that the expansion might have...

journal_title：American journal of human genetics

authors： Xi Z,van Blitterswijk M,Zhang M,McGoldrick P,McLean JR,Yunusova Y,Knock E,Moreno D,Sato C,McKeever PM,Schneider R,Keith J,Petrescu N,Fraser P,Tartaglia MC,Baker MC,Graff-Radford NR,Boylan KB,Dickson DW,Mackenzie IR

更新日期：2015-06-04 00:00:00

abstract：:Retinitis pigmentosa is the name given to a heterogeneous group of hereditary retinal degenerations characterized by progressive visual field loss, pigmentary changes of the retina, abnormal electroretinograms, and, frequently, night blindness. In this study, we investigated a family with dominant cone-rod degeneratio...

journal_title：American journal of human genetics

authors： McGuire RE,Sullivan LS,Blanton SH,Church MW,Heckenlively JR,Daiger SP

更新日期：1995-07-01 00:00:00

abstract：:Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Yet, germline mutat...

journal_title：American journal of human genetics

authors： Borrego S,Wright FA,Fernández RM,Williams N,López-Alonso M,Davuluri R,Antiñolo G,Eng C

更新日期：2003-01-01 00:00:00

abstract：:We describe a log-linear method for analysis of case-parent-triad data, based on maximum likelihood with stratification on parental mating type. The method leads to estimates of association parameters, such as relative risks, for a single allele, and also to likelihood ratio chi2 tests (LRTs) of linkage disequilibrium...

journal_title：American journal of human genetics

authors： Weinberg CR,Wilcox AJ,Lie RT

更新日期：1998-04-01 00:00:00

abstract：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

journal_title：American journal of human genetics

authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

更新日期：1984-07-01 00:00:00

abstract：:Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, present...

journal_title：American journal of human genetics

authors： Raas-Rothschild A,Wanders RJ,Mooijer PA,Gootjes J,Waterham HR,Gutman A,Suzuki Y,Shimozawa N,Kondo N,Eshel G,Espeel M,Roels F,Korman SH

更新日期：2002-04-01 00:00:00

abstract：:Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ~50,000 SNPs in up to 87,736 individuals of European ancestry and combined these in a meta-analy...

journal_title：American journal of human genetics

authors： Tragante V,Barnes MR,Ganesh SK,Lanktree MB,Guo W,Franceschini N,Smith EN,Johnson T,Holmes MV,Padmanabhan S,Karczewski KJ,Almoguera B,Barnard J,Baumert J,Chang YP,Elbers CC,Farrall M,Fischer ME,Gaunt TR,Gho JM,Gieg

更新日期：2014-03-06 00:00:00

abstract：:Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part of Finland, with a local incidence of 1 in 1500. We recently assigned the locus for vLINCL, CLN5, to 13q21.1-q32. In the present study, the haplotype analysis of...

journal_title：American journal of human genetics

authors： Varilo T,Savukoski M,Norio R,Santavuori P,Peltonen L,Järvelä I

更新日期：1996-03-01 00:00:00

abstract：:Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both...

journal_title：American journal of human genetics

authors： Royal CD,Novembre J,Fullerton SM,Goldstein DB,Long JC,Bamshad MJ,Clark AG

更新日期：2010-05-14 00:00:00

abstract：:In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three "frames" that are defined by mutations that are nonrecurrent, or nearly so. The rapid generation and extinction of new dinucleotide length variants causes the ha...

journal_title：American journal of human genetics

authors： Malaspina P,Cruciani F,Ciminelli BM,Terrenato L,Santolamazza P,Alonso A,Banyko J,Brdicka R,García O,Gaudiano C,Guanti G,Kidd KK,Lavinha J,Avila M,Mandich P,Moral P,Qamar R,Mehdi SQ,Ragusa A,Stefanescu G,Caraghin M

更新日期：1998-09-01 00:00:00

abstract：:Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this...

journal_title：American journal of human genetics

authors： Fabre A,Charroux B,Martinez-Vinson C,Roquelaure B,Odul E,Sayar E,Smith H,Colomb V,Andre N,Hugot JP,Goulet O,Lacoste C,Sarles J,Royet J,Levy N,Badens C

更新日期：2012-04-06 00:00:00

abstract：:The level of linkage disequilibrium between the XY275 MspI polymorphism and the X and Y boundaries was investigated in 21 different southern African populations. A full range of frequencies of the high allele was observed on the 1,013 X chromosomes studied, in keeping with published data. In previous studies fixation ...

journal_title：American journal of human genetics

authors： Spurdle A,Ramsay M,Jenkins T

更新日期：1992-06-01 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：:Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this condition to chromosome Xq13.1-q21 in two large unrelated families. The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mu...

journal_title：American journal of human genetics

authors： Kennerson ML,Nicholson GA,Kaler SG,Kowalski B,Mercer JF,Tang J,Llanos RM,Chu S,Takata RI,Speck-Martins CE,Baets J,Almeida-Souza L,Fischer D,Timmerman V,Taylor PE,Scherer SS,Ferguson TA,Bird TD,De Jonghe P,Feely SM,

更新日期：2010-03-12 00:00:00

abstract：:A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide sc...

journal_title：American journal of human genetics

authors： Hauser ER,Crossman DC,Granger CB,Haines JL,Jones CJ,Mooser V,McAdam B,Winkelmann BR,Wiseman AH,Muhlestein JB,Bartel AG,Dennis CA,Dowdy E,Estabrooks S,Eggleston K,Francis S,Roche K,Clevenger PW,Huang L,Pedersen B,S

更新日期：2004-09-01 00:00:00

abstract：:Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive modifying gene in the affected parent. The observed proportion of affected fathers to affected mothers who had such offspring w...

journal_title：American journal of human genetics

authors： Ridley RM,Farrer LA,Frith CD,Conneally PM

更新日期：1992-03-01 00:00:00

abstract：:The association between HLA-DR and -DQ and insulin-dependent diabetes mellitus (IDDM) in a defined high-incidence area was analyzed in a total of 58 population-based patients, representing 77% of IDDM patients with age at onset below 16 years, and in 92 unrelated parents in control families without IDDM. HLA haplotype...

journal_title：American journal of human genetics

authors： Kockum I,Wassmuth R,Holmberg E,Michelsen B,Lernmark A

更新日期：1993-07-01 00:00:00

abstract：:We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymorphism within the be...

journal_title：American journal of human genetics

authors： Kazazian HH Jr,Orkin SH,Boehm CD,Goff SC,Wong C,Dowling CE,Newburger PE,Knowlton RG,Brown V,Donis-Keller H

更新日期：1986-06-01 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：: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：:Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. How...

journal_title：American journal of human genetics

authors： Zhao H,Li J,Robinson WP

更新日期：2000-10-01 00:00:00

abstract：:Familial juvenile polyposis (FJP) is a hamartomatouspolyposis syndrome in which affected family members develop upper and lower gastrointestinal juvenile polyps and are at increased risk for gastrointestinal cancer. A genetic locus for FJP has not yet been identified by linkage; therefore, the objective of this study ...

journal_title：American journal of human genetics

authors： Howe JR,Ringold JC,Summers RW,Mitros FA,Nishimura DY,Stone EM

更新日期：1998-05-01 00:00:00

abstract：:Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity. Loss...

journal_title：American journal of human genetics

authors： Li M,Cheng R,Liang J,Yan H,Zhang H,Yang L,Li C,Jiao Q,Lu Z,He J,Ji J,Shen Z,Li C,Hao F,Yu H,Yao Z

更新日期：2013-06-06 00:00:00

abstract：:X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS defici...

journal_title：American journal of human genetics

authors： Basler E,Grompe M,Parenti G,Yates J,Ballabio A

更新日期：1992-03-01 00:00:00

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：:Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE reviews, we assessed the scientific evidence supporting the purported gene-disease associations for genes included in g...

journal_title：American journal of human genetics

authors： Janssens AC,Gwinn M,Bradley LA,Oostra BA,van Duijn CM,Khoury MJ

更新日期：2008-03-01 00:00:00

abstract：:Alpha-globin gene cluster haplotypes were determined in Southern African San and negroid populations. Significant differences (P less than .01) between the two groups were found at three of the nine loci in the cluster. The most striking difference, however, was the relatively low level of variation found in the San (...

journal_title：American journal of human genetics

authors： Ramsay M,Jenkins T

更新日期：1988-10-01 00:00:00