Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

abstract：:Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...

journal_title：Human genetics

authors： Eising E,Huisman SMH,Mahfouz A,Vijfhuizen LS,Anttila V,Winsvold BS,Kurth T,Ikram MA,Freilinger T,Kaprio J,Boomsma DI,van Duijn CM,Järvelin MR,Zwart JA,Quaye L,Strachan DP,Kubisch C,Dichgans M,Davey Smith G,Stefansso

更新日期：2016-04-01 00:00:00

abstract：:The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...

journal_title：Human genetics

authors： Stöhr H,Klein J,Gehrig A,Koehler MR,Jurklies B,Kellner U,Leo-Kottler B,Schmid M,Weber BH

更新日期：1999-01-01 00:00:00

abstract：:We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...

journal_title：Human genetics

authors： Rowe PS,Goulding J,Read A,Lehrach H,Francis F,Hanauer A,Oudet C,Biancalana V,Kooh SW,Davies KE

更新日期：1994-03-01 00:00:00

abstract：:Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...

journal_title：Human genetics

authors： Sharma G,Polasa H

更新日期：1978-12-18 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：:A cosmid library was constructed from genomic DNA of a human-mouse somatic cell hybrid containing an 11q-16q translocation chromosome as the only human DNA. Cosmids with human inserts were prehybridized with total human DNA and were screened to find probes that revealed highly polymorphic loci. From one such cosmid, C...

journal_title：Human genetics

authors： Bufton L,Mohandas TK,Magenis RE,Sheehy R,Bestwick RK,Litt M

更新日期：1986-12-01 00:00:00

abstract：:The decade since the publication of the Human Genome Project draft has ended with the discovery of hundreds of genomic markers related to diseases and phenotypes. However, the project has not yet delivered on its promise to tailor treatments for individuals. The number of genomic markers in clinical practice is very s...

journal_title：Human genetics

authors： Tajik P,Bossuyt PM

更新日期：2011-07-01 00:00:00

abstract：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

journal_title：Human genetics

authors： Müller CR,Migl B,Traupe H,Ropers HH

更新日期：1980-01-01 00:00:00

abstract：:In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...

journal_title：Human genetics

authors： Tchirkov A,Bay JO,Pernin D,Bignon YJ,Rio P,Grancho M,Kwiatkowski F,Giollant M,Malet P,Verrelle P

更新日期：1997-12-01 00:00:00

abstract：:The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...

journal_title：Human genetics

authors： Kuwano A,Morimoto Y,Nagai T,Fukushima Y,Ohashi H,Hasegawa T,Kondo I

更新日期：1996-01-01 00:00:00

abstract：:Chronic gastro-oesophageal reflux disease can induce a metaplastic change of the distal oesophagus called Barrett's oesophagus whereby the normal squamous epithelium is substituted by a columnar epithelium. Patients with Barrett's oesophagus are at increased risk of oesophageal adenocarcinoma which occurs through dysp...

journal_title：Human genetics

authors： di Pietro M,Fitzgerald RC

更新日期：2009-08-01 00:00:00

abstract：:The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia. Mutation analysis in 19 families of German, Swiss and Turkish descent by single-strand conformation polymorphism and sequencing resulted in the detection of seven ...

journal_title：Human genetics

authors： Schindelhauer D,Weiss M,Hellebrand H,Golla A,Hergersberg M,Seger R,Belohradsky BH,Meindl A

更新日期：1996-07-01 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 00:00:00

abstract：:H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,...

journal_title：Human genetics

authors： Fraccaro M,Mayerová A,Wolf U,Bühler E,Gebauer J,Gilgenkrantz S,Lindsten J,Lo Curto F,Ritzén EM

更新日期：1982-01-01 00:00:00

abstract：:Enzymes encoded by two gene families, alcohol dehydrogenase ( ADH) and aldehyde dehydrogenase ( ALDH), mediate alcohol metabolism in humans. Allelic variants have been identified that alter metabolic rates and influence risk for alcoholism. Specifically, ADH1B*47His (previously ADH2-2) and ALDH2-2 have been shown to c...

journal_title：Human genetics

authors： Mulligan CJ,Robin RW,Osier MV,Sambuughin N,Goldfarb LG,Kittles RA,Hesselbrock D,Goldman D,Long JC

更新日期：2003-09-01 00:00:00

abstract：:Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with ...

journal_title：Human genetics

authors： Okur V,Cho MT,Henderson L,Retterer K,Schneider M,Sattler S,Niyazov D,Azage M,Smith S,Picker J,Lincoln S,Tarnopolsky M,Brady L,Bjornsson HT,Applegate C,Dameron A,Willaert R,Baskin B,Juusola J,Chung WK

更新日期：2016-07-01 00:00:00

abstract：:Lipoprotein(a) [Lp(a)] is a quantitative trait in human plasma. Lp(a) consists of a low-density lipoprotein and the plasminogen-related apolipoprotein(a) [apo(a)]. The apo(a) gene determines a size polymorphism of the protein, which is related to Lp(a) levels in plasma. In an attempt to gain a deeper insight into the ...

journal_title：Human genetics

authors： Kraft HG,Köchl S,Menzel HJ,Sandholzer C,Utermann G

更新日期：1992-11-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...

journal_title：Human genetics

authors： Mitchell SL,Goodloe R,Brown-Gentry K,Pendergrass SA,Murdock DG,Crawford DC

更新日期：2014-07-01 00:00:00

abstract：:The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...

journal_title：Human genetics

authors： Thomas NS,Maloney V,Bryant V,Huang S,Brewer C,Lachlan K,Jacobs PA

更新日期：2009-03-01 00:00:00

abstract：:The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc v...

journal_title：Human genetics

authors： Thymann M,Hoste B,Scheffrahn W,Constans J,Cleve H

更新日期：1985-01-01 00:00:00

abstract：:The geographical distribution and prevalence of 256 single base-pair substitutions (105 of them being different) within the coding region of the human protein C (PROC) gene were correlated with their initial likelihoods of generation. A significant positive correlation was observed between these "mutational likelihood...

journal_title：Human genetics

authors： Krawczak M,Reitsma PH,Cooper DN

更新日期：1995-08-01 00:00:00

abstract：:The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...

journal_title：Human genetics

authors： Happle R

更新日期：1985-01-01 00:00:00

abstract：:Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...

journal_title：Human genetics

authors： Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE

更新日期：2005-10-01 00:00:00

abstract：:A pachytene chromomere map of bivalent 10 is presented. Recent results from high-resolution metaphase banding document a similar pattern of intrachromosomal differentiation. ...

journal_title：Human genetics

authors： Hungerford DA,Hungerford AM

更新日期：1979-11-01 00:00:00

abstract：:An 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical features similar to those described in Caucasian cases. ...

journal_title：Human genetics

authors： Kuroki Y,Yokota S,Nakai H,Yamamoto Y,Matsui I

更新日期：1977-08-31 00:00:00

abstract：:A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres ...

journal_title：Human genetics

authors： Houshmand M,Larsson NG,Oldfors A,Tulinius M,Holme E

更新日期：1996-03-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric co...

journal_title：Human genetics

authors： Yurov YB,Laurent AM,Marcais B,Vorsanova SG,Roizes G

更新日期：1995-03-01 00:00:00

abstract：:Plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase or chitinase (CHIT) might play a role in degrading the chitin wall of some microorganisms. In about 6% of Caucasian people the enzyme shows pseudodeficiency (defined as very low activity without apparent symptoms). We have mapped this locus by linkage a...

journal_title：Human genetics

authors： Eiberg H,Den Tandt WR

更新日期：1997-12-01 00:00:00

abstract：:A large partially inbred kindred segregating Tangier disease is analyzed for linkage to seventeen informative markers. Three criteria were developed to classify heterozygotes and each criterion's validity was subsequently evaluated by assessing the pedigree distribution of diagnoses for internal consistency. The resul...

journal_title：Human genetics

authors： Suarez BK,Schonfeld G,Sparkes RS

更新日期：1982-01-01 00:00:00