Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.

abstract：:A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...

journal_title：Human genetics

authors： Tsuda M,Sei Y,Matsumoto M,Kamiguchi H,Yamamoto M,Shinohara Y,Igarashi T,Yamamura M

更新日期：1992-12-01 00:00:00

abstract：:A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers. ...

journal_title：Human genetics

authors： Hashimoto T,Tsukino R,Chiyo H,Furuyama J

更新日期：1980-02-01 00:00:00

abstract：:Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...

journal_title：Human genetics

authors： Krepinsky AB,Heddle JA,German J

更新日期：1979-01-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have primarily focused on marginal effects for individual markers and have incorporated external functional information only after identifying robust statistical associations. We applied a new approach combining the genetics of gene expression and functional classification of ge...

journal_title：Human genetics

authors： Zhang M,Liang L,Morar N,Dixon AL,Lathrop GM,Ding J,Moffatt MF,Cookson WO,Kraft P,Qureshi AA,Han J

更新日期：2012-04-01 00:00:00

abstract：:We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular ...

journal_title：Human genetics

authors： David D,Freixo JP,Fino J,Carvalho I,Marques M,Cardoso M,Piña-Aguilar RE,Morton CC

更新日期：2020-04-01 00:00:00

abstract：:Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...

journal_title：Human genetics

authors： Malcolm S,de Saint Basile G,Arveiler B,Lau YL,Szabo P,Fischer A,Griscelli C,Debre M,Mandel JL,Callard RE

更新日期：1987-10-01 00:00:00

abstract：:Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to ...

journal_title：Human genetics

authors： Gamazon ER,Stranger BE

更新日期：2014-06-01 00:00:00

abstract：:A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (Fx) codominant to F. The Fx allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17,Fx. ...

journal_title：Human genetics

authors： Petersen GB,Sørensen IJ,Buskjaer L,Lamm LU

更新日期：1979-01-01 00:00:00

abstract：:A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...

journal_title：Human genetics

authors： Lenz W,Zygulska M,Horst J

更新日期：1993-05-01 00:00:00

abstract：:Congenital hypothyroidism affects 1/3000-4000 newborns and it has been estimated that 10-20% are familial cases with an autosomal recessive mode of inheritance. Previous studies of mostly individual cases have led to the identification of mutations in a number of genes, indicating that it is a genetically heterogeneou...

journal_title：Human genetics

authors： Ahlbom BE,Yaqoob M,Gustavsson P,Abbas HG,Annerén G,Larsson A,Wadelius C

更新日期：2002-02-01 00:00:00

abstract：:A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was...

journal_title：Human genetics

authors： Bender K,Mauff G,Hitzeroth HW

更新日期：1977-09-22 00:00:00

abstract：:Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has b...

journal_title：Human genetics

authors： Chery M,Biancalana V,Philippe C,Malpuech G,Carla H,Gilgenkrantz S,Mandel JL,Hanauer A

更新日期：1994-05-01 00:00:00

abstract：:Three common alleles, epsilon2, epsilon3, and epsilon4, of the gene coding for apolipoprotein E (apoE) have been identified as predictors of interindividual variation in measures of lipid and lipoprotein metabolism, and ultimately risk of coronary heart disease (CHD), within many populations. Here we evaluated the uti...

journal_title：Human genetics

authors： Stengård JH,Weiss KM,Sing CF

更新日期：1998-08-01 00:00:00

abstract：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

更新日期：2005-05-01 00:00:00

abstract：:A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...

journal_title：Human genetics

authors： Dziuba P,Dziekanowska D,Hübner H

更新日期：1976-03-12 00:00:00

abstract：:A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The rep...

journal_title：Human genetics

authors： Turleau C,Chavin-Colin F,de Grouchy J,Repessé G,Beauvais P

更新日期：1977-06-10 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...

journal_title：Human genetics

authors： Perrichot RA,Mercier B,Simon PM,Whebe B,Cledes J,Ferec C

更新日期：1999-09-01 00:00:00

abstract：:Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans worldwide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (-13907, -13910 and -13915) of the lact...

journal_title：Human genetics

authors： Olds LC,Ahn JK,Sibley E

更新日期：2011-01-01 00:00:00

abstract：:Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during chi...

journal_title：Human genetics

authors： St Pourcain B,Haworth CM,Davis OS,Wang K,Timpson NJ,Evans DM,Kemp JP,Ronald A,Price T,Meaburn E,Ring SM,Golding J,Hakonarson H,Plomin R,Davey Smith G

更新日期：2015-06-01 00:00:00

abstract：:X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently b...

journal_title：Human genetics

authors： Schwartz M,Blichfeldt S,Müller J

更新日期：1997-01-01 00:00:00

abstract：:Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...

journal_title：Human genetics

authors： Szamalek JM,Goidts V,Chuzhanova N,Hameister H,Cooper DN,Kehrer-Sawatzki H

更新日期：2005-07-01 00:00:00

abstract：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:PTEN is one of the most frequently mutated tumor suppressor genes in human cancers. Mutations occur in either heritable or sporadic fashion. Sequencing of cDNA from patients and normal individuals often reveals splicing variants (SVs) of PTEN, some of which are non-mutation related. To investigate whether these SVs we...

journal_title：Human genetics

authors： Liu Y,Malaviarachchi P,Beggs M,Emanuel PD

更新日期：2010-12-01 00:00:00

abstract：:Five DNA probes known to originate from the region 7q22-q31 were sublocalized by in situ hybridization to metaphase preparations of fibroblasts having besides a normal chromosome 7, a homologue 7 with an apparent interstitial deletion of a large part of band q22. A flow cytometric chromosome analysis confirmed a loss ...

journal_title：Human genetics

authors： van der Hout AH,van der Veen AY,Aten JA,Buys CH

更新日期：1988-10-01 00:00:00

abstract：:A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1. ...

journal_title：Human genetics

authors： de Verneuil H,Grandchamp B,Foubert C,Weil D,N'Guyen VC,Gross MS,Sassa S,Nordmann Y

更新日期：1984-01-01 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：:We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...

journal_title：Human genetics

authors： Divoky V,Baysal E,Oner R,Cürük MA,Walker EL 3rd,Indrak K,Huisman TH

更新日期：1994-01-01 00:00:00

abstract：:Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, howev...

journal_title：Human genetics

authors： LaConte LEW,Chavan V,Elias AF,Hudson C,Schwanke C,Styren K,Shoof J,Kok F,Srivastava S,Mukherjee K

更新日期：2018-03-01 00:00:00

abstract：:Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to identify additional novel breast cancer susceptibility variants and to rep...

journal_title：Human genetics

authors： Sehrawat B,Sridharan M,Ghosh S,Robson P,Cass CE,Mackey JR,Greiner R,Damaraju S

更新日期：2011-10-01 00:00:00

abstract：:GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variet...

journal_title：Human genetics

authors： Carmona-Mora P,Widagdo J,Tomasetig F,Canales CP,Cha Y,Lee W,Alshawaf A,Dottori M,Whan RM,Hardeman EC,Palmer SJ

更新日期：2015-10-01 00:00:00