A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

abstract：:The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We use...

journal_title：American journal of human genetics

authors： Hartig MB,Iuso A,Haack T,Kmiec T,Jurkiewicz E,Heim K,Roeber S,Tarabin V,Dusi S,Krajewska-Walasek M,Jozwiak S,Hempel M,Winkelmann J,Elstner M,Oexle K,Klopstock T,Mueller-Felber W,Gasser T,Trenkwalder C,Tiranti V,Kr

更新日期：2011-10-07 00:00:00

abstract：:The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation has been investigated in a group of phase-known double heterozygotes for the FRA-X mutant and the G6PD Mediterranean variant. In these individuals, the number ...

journal_title：American journal of human genetics

authors： Rocchi M,Archidiacono N,Rinaldi A,Filippi G,Bartolucci G,Fancello GS,Siniscalco M

更新日期：1990-04-01 00:00:00

abstract：:In humans, deviations from a 1:1 male:female ratio have been identified in both chromosomally normal and trisomic live births: among normal newborns there is a slight excess of males, among trisomy 18 live borns a large excess of females, and among trisomy 21 live borns an excess of males. These differences could aris...

journal_title：American journal of human genetics

authors： Griffin DK,Abruzzo MA,Millie EA,Feingold E,Hassold TJ

更新日期：1996-11-01 00:00:00

abstract：:Congenital heart defects (CHDs) are among the most common birth defects in humans (incidence 8-10 per 1,000 live births). Although their etiology is often poorly understood, most are considered to arise from multifactorial influences, including environmental and genetic components, as well as from less common syndromi...

journal_title：American journal of human genetics

authors： Karkera JD,Lee JS,Roessler E,Banerjee-Basu S,Ouspenskaia MV,Mez J,Goldmuntz E,Bowers P,Towbin J,Belmont JW,Baxevanis AD,Schier AF,Muenke M

更新日期：2007-11-01 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：:The polymerase chain reaction (PCR) makes it possible to rapidly generate a very large number of copies of a specific region of DNA. Application of PCR to individual human sperm cells permits the typing of a large number of independent male meiotic events. If the donor male is heterozygous at three loci, sperm typing ...

journal_title：American journal of human genetics

authors： Boehnke M,Arnheim N,Li H,Collins FS

更新日期：1989-07-01 00:00:00

abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

journal_title：American journal of human genetics

authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

更新日期：1995-08-01 00:00:00

abstract：:Admixture mapping (also known as "mapping by admixture linkage disequilibrium," or MALD) provides a way of localizing genes that cause disease, in admixed ethnic groups such as African Americans, with approximately 100 times fewer markers than are required for whole-genome haplotype scans. However, it has not been pos...

journal_title：American journal of human genetics

authors： Smith MW,Patterson N,Lautenberger JA,Truelove AL,McDonald GJ,Waliszewska A,Kessing BD,Malasky MJ,Scafe C,Le E,De Jager PL,Mignault AA,Yi Z,De The G,Essex M,Sankale JL,Moore JH,Poku K,Phair JP,Goedert JJ,Vlahov D,

更新日期：2004-05-01 00:00:00

abstract：:The poly(ADP-ribose) polymerase (PADPRP) gene (13q33-qter) depicts a two-allele (A/B) polymorphism. In the noncancer population, the frequency of the B allele is higher among blacks than among whites. Since the incidence of multiple myeloma and prostate and lung cancer is higher in the U.S. black population, we have a...

journal_title：American journal of human genetics

authors： Lyn D,Cherney BW,Lalande M,Berenson JR,Lichtenstein A,Lupold S,Bhatia KG,Smulson M

更新日期：1993-01-01 00:00:00

abstract：:Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene. The mutation has been identifie...

journal_title：American journal of human genetics

authors： Dreyer B,Tranebjaerg L,Brox V,Rosenberg T,Möller C,Beneyto M,Weston MD,Kimberling WJ,Cremers CW,Liu XZ,Nilssen O

更新日期：2001-07-01 00:00:00

abstract：:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three l...

journal_title：American journal of human genetics

authors： Goldstein AM,Dracopoli NC,Ho EC,Fraser MC,Kearns KS,Bale SJ,McBride OW,Clark WH Jr,Tucker MA

更新日期：1993-03-01 00:00:00

abstract：:We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

journal_title：American journal of human genetics

authors： Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

更新日期：1996-04-01 00:00:00

abstract：:Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confir...

journal_title：American journal of human genetics

authors： Ricciuti FC,Gelehrter TD,Rosenberg LE

更新日期：1976-07-01 00:00:00

abstract：:Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed th...

journal_title：American journal of human genetics

authors： Zhang F,Seeman P,Liu P,Weterman MA,Gonzaga-Jauregui C,Towne CF,Batish SD,De Vriendt E,De Jonghe P,Rautenstrauss B,Krause KH,Khajavi M,Posadka J,Vandenberghe A,Palau F,Van Maldergem L,Baas F,Timmerman V,Lupski JR

更新日期：2010-06-11 00:00:00

abstract：:In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. We propose a Monte Carlo procedure based on th...

journal_title：American journal of human genetics

authors： Kong A,Frigge M,Irwin M,Cox N

更新日期：1992-12-01 00:00:00

abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

journal_title：American journal of human genetics

authors： Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

更新日期：1996-07-01 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：:Analysis of human-Chinese hamster somatic cell hybrids with spontaneously derived chromosome structural changes has provided data for the regional and subregional localization of gene loci which have previously been assigned to human chromosomes 2, 12, and X. Correlation of the expression of human gene loci with the h...

journal_title：American journal of human genetics

authors： Hamerton JL,Mohandas T,McAlpine J

更新日期：1975-09-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene ...

journal_title：American journal of human genetics

authors： Abalkhail H,Mitchell J,Habgood J,Orrell R,de Belleroche J

更新日期：2003-08-01 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：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

journal_title：American journal of human genetics

authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

更新日期：2000-04-01 00:00:00

abstract：:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rh...

journal_title：American journal of human genetics

authors： Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

更新日期：1991-01-01 00:00:00

abstract：:We consider sequential sampling of pedigrees for genetic analysis. Cannings and Thompson (1977) gave simple, general guidelines for valid sequential sampling schemes. We show that their formulation of the likelihood contains an error, which is, however, easily corrected so as to maintain the validity of the sequential...

journal_title：American journal of human genetics

authors： Hodge SE,Boehnke M

更新日期：1986-08-01 00:00:00

abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

journal_title：American journal of human genetics

authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

更新日期：2018-09-06 00:00:00

abstract：:We report recessive mutations in the gene for the latent transforming growth factor-beta binding protein 4 (LTBP4) in four unrelated patients with a human syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with ...

journal_title：American journal of human genetics

authors： Urban Z,Hucthagowder V,Schürmann N,Todorovic V,Zilberberg L,Choi J,Sens C,Brown CW,Clark RD,Holland KE,Marble M,Sakai LY,Dabovic B,Rifkin DB,Davis EC

更新日期：2009-11-01 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：:Bulimia nervosa (BN) is strongly familial, and additive genetic effects appear to contribute substantially to the observed familiality. In turn, behavioral components of BN, such as self-induced vomiting, are reliably measured and heritable. To identify regions of the genome harboring genetic variants conferring susce...

journal_title：American journal of human genetics

authors： Bulik CM,Devlin B,Bacanu SA,Thornton L,Klump KL,Fichter MM,Halmi KA,Kaplan AS,Strober M,Woodside DB,Bergen AW,Ganjei JK,Crow S,Mitchell J,Rotondo A,Mauri M,Cassano G,Keel P,Berrettini WH,Kaye WH

更新日期：2003-01-01 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：:Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...

journal_title：American journal of human genetics

authors： Richard G,Rouan F,Willoughby CE,Brown N,Chung P,Ryynänen M,Jabs EW,Bale SJ,DiGiovanna JJ,Uitto J,Russell L

更新日期：2002-05-01 00:00:00

abstract：:The genetic map in the region of human chromosome 7 that harbors the gene for cystic fibrosis (CF) has been refined by multilocus linkage studies in an expanded database including a large set of normal families. Six loci known to be linked to CF were examined: MET, an oncogene; COL1A2, collagen, TCRB, T-cell-receptor ...

journal_title：American journal of human genetics

authors： Lathrop GM,Farrall M,O'Connell P,Wainwright B,Leppert M,Nakamura Y,Lench N,Kruyer H,Dean M,Park M

更新日期：1988-01-01 00:00:00