C'3 polymorphism in Italy.

abstract：:We have investigated the organization and genomic distribution of sequences homologous to p82H, a cloned human alpha satellite sequence purported, based on previous in situ hybridization experiments, to exist at the centromere of each human chromosome. We report here that, using Southern blotting analysis under condit...

journal_title：Human genetics

authors： Waye JS,Mitchell AR,Willard HF

更新日期：1988-01-01 00:00:00

abstract：:The pediatric eye-tumor retinoblastoma is widely held as a paradigm of human cancer genetics and has been a model system for both the two-hit hypothesis of dominantly inherited cancer as well as for the concept of tumor-specific loss of constitutional heterozygosity to achieve expression of the tumorigenic phenotype. ...

journal_title：Human genetics

authors： Schubert EL,Strong LC,Hansen MF

更新日期：1997-10-01 00:00:00

abstract：:A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...

journal_title：Human genetics

authors： Brunner HG,van Bennekom A,Lambermon EM,Oei TL,Cremers WR,Wieringa B,Ropers HH

更新日期：1988-12-01 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:Variability in the susceptibility to infectious disease and its clinical manifestation can be determined by variation in the environment and by genetic variation in the pathogen and the host. Despite several successes based on candidate gene studies, defining the host variation affecting infectious disease has not bee...

journal_title：Human genetics

authors： Hollox EJ,Hoh BP

更新日期：2014-10-01 00:00:00

abstract：:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...

journal_title：Human genetics

authors： Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JR

更新日期：1991-06-01 00:00:00

abstract：:A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...

journal_title：Human genetics

authors： Disteche CM,Brown L,Saal H,Friedman C,Thuline HC,Hoar DI,Pagon RA,Page DC

更新日期：1986-12-01 00:00:00

abstract：:A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 00:00:00

abstract：:Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a delet...

journal_title：Human genetics

authors： Harteveld CL,Kriek M,Bijlsma EK,Erjavec Z,Balak D,Phylipsen M,Voskamp A,di Capua E,White SJ,Giordano PC

更新日期：2007-11-01 00:00:00

abstract：:Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration, which has X-linked, autosomal recessive and autosomal dominant forms. The disease genes in families with autosomal dominant retinitis pigmentosa (adRP) have been linked to six loci, on 3q, 6p, 7p, 7q, 8q and 19q. In a large American fami...

journal_title：Human genetics

authors： McGuire RE,Gannon AM,Sullivan LS,Rodriguez JA,Daiger SP

更新日期：1995-01-01 00:00:00

abstract：:COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-o...

journal_title：Human genetics

authors： Booth KT,Ghaffar A,Rashid M,Hovey LT,Hussain M,Frees K,Renkes EM,Nishimura CJ,Shahzad M,Smith RJ,Ahmed Z,Azaiez H,Riazuddin S

更新日期：2020-12-01 00:00:00

abstract：:Vascular twin nevi, i.e., telangiectatic nevus and nevus anemicus occurring together and adjacent to each other, can be explained as twin spots resulting from a somatic recombination. It is so far unclear, however, whether the postulated underlying autosomal recessive mutations are allelic. This problem can be approac...

journal_title：Human genetics

authors： Happle R

更新日期：1991-01-01 00:00:00

abstract：:A locus, LP, that determines quantitative variation of Lp(a) lipoprotein phenotypes is linked to the plasminogen (PLG) locus (peak lod score = 12.73). This linkage relationship assigns a locus with alleles that have an affect on risk for coronary artery disease to the long arm of chromosome 6. ...

journal_title：Human genetics

authors： Weitkamp LR,Guttormsen SA,Schultz JS

更新日期：1988-05-01 00:00:00

abstract：:We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...

journal_title：Human genetics

authors： Kuribayashi F,de Boer M,Leusen JH,Verhoeven AJ,Roos D

更新日期：1996-05-01 00:00:00

abstract：:Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for alpha1-antitrypsin (alpha1AT) variants by electrophoresis on agarose-polyacrylamide gels at pH 4.7 and isoelectric focusing (IEF). The frequencies of the Pi (Protease i...

journal_title：Human genetics

authors： Klasen EC,Franken C,Volkers WS,Bernini LF

更新日期：1977-07-26 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine. We have rece...

journal_title：Human genetics

authors： Raz T,Barrett T,Szargel R,Mandel H,Neufeld EJ,Nosaka K,Viana MB,Cohen N

更新日期：1998-10-01 00:00:00

abstract：:The most common form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene that is carried on the X-chromosome and give rise to the X-linked form of the disease. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, the catalytic core of the superoxide-generating enz...

journal_title：Human genetics

authors： Noack D,Heyworth PG,Kyono W,Cross AR

更新日期：2001-08-01 00:00:00

abstract：:We have isolated cDNA clones from a human NK cell cDNA library that encode the serine protease granzyme B. Although the sequence of the entire coding region for the mature protein and the 3' untranslated region of the clone are identical to other cDNA isolates of this gene obtained from human T cell cDNA libraries, th...

journal_title：Human genetics

authors： Dahl CA,Bach FH,Chan W,Huebner K,Russo G,Croce CM,Herfurth T,Cairns JS

更新日期：1990-04-01 00:00:00

abstract：:Genetic anticipation is the increased incidence, earlier onset, or increased severity of a disease in successive generations. Before the biological basis of anticipation had been demonstrated, the phenomenon was thought to be due to sampling bias, epigenetic effects, gene conversion, or recombinant events. Since then,...

journal_title：Human genetics

authors： Brown BW,Costello TJ,Hwang SJ,Strong LC

更新日期：2005-12-01 00:00:00

abstract：:The centromeric regions of cattle, goat and sheep chromosomes bind anti-5-MeC as revealed by immunofluorescence technique, indicating concentration of 5-MeC at these heterochromatic regions. The centromere of the submetacentric X of cattle remains nearly unstained and so do the centromeres of the acrocentric X chromos...

journal_title：Human genetics

authors： Schnedl W,Erlanger BF,Miller OJ

更新日期：1976-01-28 00:00:00

abstract：:The maternal age distribution of 45,X abortuses was significantly lower than that of chromosomally normal abortuses in two co-ordinated studies. One, carried out in Geneva, included 44 X-monosomic abortuses and the other, in Hiroshima, was based on 38 abortuses with a 45,X karyotype. It was deduced that 45,X conceptus...

journal_title：Human genetics

authors： Kajii T,Ohama K

更新日期：1979-10-01 00:00:00

abstract：:We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...

journal_title：Human genetics

authors： Wassink TH,Losh M,Frantz RS,Vieland VJ,Goedken R,Piven J,Sheffield VC

更新日期：2005-07-01 00:00:00

abstract：:Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical a...

journal_title：Human genetics

authors： Grody WW,Kern RM,Klein D,Dodson AE,Wissman PB,Barsky SH,Cederbaum SD

更新日期：1993-03-01 00:00:00

abstract：:In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfec...

journal_title：Human genetics

authors： Rose NJ,Mackay K,Byers PH,Dalgleish R

更新日期：1995-02-01 00:00:00

abstract：:Family-based candidate gene and genome-wide association studies are a logical progression from linkage studies for the identification of gene and polymorphisms underlying complex traits. An efficient way to analyse phenotypic and genotypic data is to model linkage and association simultaneously. An important result fr...

journal_title：Human genetics

authors： Gordon S,Visscher PM

更新日期：2007-03-01 00:00:00

abstract：:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...

journal_title：Human genetics

authors： Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

更新日期：1989-06-01 00:00:00

abstract：:We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just p...

journal_title：Human genetics

authors： Ellison JW,Tekin M,Sikes KS,Yankowitz J,Shapiro L,Rappold GA,Neely KE

更新日期：2002-04-01 00:00:00

abstract：:The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from ...

journal_title：Human genetics

authors： Cooke A,Gillard EF,Yates JR,Mitchell MJ,Aitken DA,Weir DM,Affara NA,Ferguson-Smith MA

更新日期：1988-05-01 00:00:00

abstract：:The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...

journal_title：Human genetics

authors： Cans C,Cohen O,Lavergne C,Mermet MA,Demongeot J,Jalbert P

更新日期：1993-12-01 00:00:00

abstract：:Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal basement membrane. Mutations in any of the three genes encoding the alpha3, beta3 and ...

journal_title：Human genetics

authors： Mühle C,Jiang QJ,Charlesworth A,Bruckner-Tuderman L,Meneguzzi G,Schneider H

更新日期：2005-01-01 00:00:00