Hand dermatoglyphics in trisomy 4p.

abstract：:This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation. ...

journal_title：Human genetics

authors： Der Kaloustian VM,Masri R,Khudr A,Talj F,Libbus B,Nabulsi M,Khouri FP

更新日期：1987-01-01 00:00:00

abstract：:Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection. In particular, genes encoding human leukocyte antigens (HLA) have various alleles, haplotypes, or specif...

journal_title：Human genetics

authors： Li X,Price MA,He D,Kamali A,Karita E,Lakhi S,Sanders EJ,Anzala O,Amornkul PN,Allen S,Hunter E,Kaslow RA,Gilmour J,Tang J,IAVI Africa HIV Prevention Partnership.

更新日期：2014-09-01 00:00:00

abstract：:We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was obse...

journal_title：Human genetics

authors： Zenteno JC,López M,Vera C,Méndez JP,Kofman-Alfaro S

更新日期：1997-10-01 00:00:00

abstract：:Chromosomal analysis from aborted tissue has become an important diagnostic aid. However, the necessary cultures are frequently unsuccessful due to the condition of the aborted tissue. Polyploidy, in particular triploidy, in the conceptus is a common cause of early pregnancy loss and unlike aneuploidy does not appear ...

journal_title：Human genetics

authors： Riekki K,Baillie JE,Nair KK,Dill FJ,Poland BJ,Baillie DL

更新日期：1977-07-26 00:00:00

abstract：:The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower...

journal_title：Human genetics

authors： Steen AM,Marcus S,Sahlén S,Nielsen KB,Lambert B

更新日期：1991-08-01 00:00:00

abstract：:A gene for early-onset familial breast cancer has recently been mapped to the chromosome 17q12-23 region. In order to confirm the gene location, we have tested an extensive early-onset breast cancer family with 4 markers in this chromosome region. Linkage was negative with all 4 markers. This study suggests that there...

journal_title：Human genetics

authors： Sobol H,Mazoyer S,Narod SA,Smith SA,Black DM,Kerbrat P,Jamot B,Solomon E,Ponder BA,Guerin D

更新日期：1992-06-01 00:00:00

abstract：:This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150 unrelated Greek familial hypercholesterolaemia (FH) heterozygous children by the analysis of six LDLR gene mutations. The linkage disequilibrium of two polymorphic microsatellites (D19S394 and D19S221) flank...

journal_title：Human genetics

authors： Traeger-Synodinos J,Mavroidis N,Kanavakis E,Drogari E,Humphries SE,Day IN,Kattamis C,Matsaniotis N

更新日期：1998-03-01 00:00:00

abstract：:Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed...

journal_title：Human genetics

authors： Tønnesen T,Lykkelund C,Güttler F

更新日期：1982-01-01 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：: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：:A non-alphoid repetitive DNA from human chromosome 22, consisting of a 48-bp motif, shows homology to both G-group chromosomes in the gorilla, thus indicating the presence of additional repeat family members on further human chromosomes. Therefore, we screened a chromosome-21-specific cosmid library using this repetit...

journal_title：Human genetics

authors： Müllenbach R,Lutz S,Holzmann K,Dooley S,Blin N

更新日期：1992-07-01 00:00:00

abstract：:A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...

journal_title：Human genetics

authors： Siebert G,Kömpf J,Ritter H

更新日期：1980-01-01 00:00:00

abstract：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 00:00:00

abstract：:Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German fa...

journal_title：Human genetics

authors： Bürger J,Metzke H,Paternotte C,Schilling F,Hazan J,Reis A

更新日期：1996-09-01 00:00:00

abstract：:A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular deg...

journal_title：Human genetics

authors： Zhang Q,Zulfiqar F,Xiao X,Riazuddin SA,Ayyagari R,Sabar F,Caruso R,Sieving PA,Riazuddin S,Hejtmancik JF

更新日期：2005-12-01 00:00:00

abstract：:Thioridazine (Mellaril), a psychotropic drug belonging to the phenothiazine group of drugs, was evaluated for its in vivo clastogenic effect on human chromosomes in lymphocyte cultures. Lymphocyte cultures were set up with peripheral blood samples of psychiatric patients (diagnosis: schizophrenia, mania, manic depress...

journal_title：Human genetics

authors： Saxena R,Ahuja YR

更新日期：1982-01-01 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the synd...

journal_title：Human genetics

authors： Sokolov BP,Prytkov AN,Tromp G,Knowlton RG,Prockop DJ

更新日期：1991-12-01 00:00:00

abstract：:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...

journal_title：Human genetics

authors： Stenson PD,Mort M,Ball EV,Evans K,Hayden M,Heywood S,Hussain M,Phillips AD,Cooper DN

更新日期：2017-06-01 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：:We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia. The delta was amplified using the polymerase chain reaction (PCR), and the amplified material was used in a direct sequencing experiment. The nuc...

journal_title：Human genetics

authors： Losekoot M,Fodde R,Giordano PC,Bernini LF

更新日期：1989-08-01 00:00:00

abstract：:A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...

journal_title：Human genetics

authors： Chockkalingam K,Board PG,Nurse GT

更新日期：1982-01-01 00:00:00

abstract：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

journal_title：Human genetics

authors： González R,Estrada M,García M,Gutierrez A

更新日期：1980-01-01 00:00:00

abstract：:Prior to the isolation of mammalian DNA repair genes and identification of their gene products, the comparison between the bacterial SOS response and various similar reactions in mammalian cells remains rather speculative. The increasing number of observed phenomena including enhanced DNA repair, virus induction, indu...

journal_title：Human genetics

authors： Herrlich P,Mallick U,Ponta H,Rahmsdorf HJ

更新日期：1984-01-01 00:00:00

abstract：:The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...

journal_title：Human genetics

authors： Weidinger S,Schwarzfischer F,Burgemeister R,Cleve H

更新日期：1984-01-01 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：: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：:A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...

journal_title：Human genetics

authors： Blake NM

更新日期：1978-07-12 00:00:00

abstract：:The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...

journal_title：Human genetics

authors： Dudley CR,Giuffra LA,Tippett P,Kidd KK,Reeders ST

更新日期：1990-11-01 00:00:00

abstract：:Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...

journal_title：Human genetics

authors： Nghiem PP,Kornegay JN

更新日期：2019-05-01 00:00:00

abstract：:Cytogenetic preparations from oocytes remaining unfertilised after in vitro fertilisation revealed single chromatids (as opposed to whole chromosomes) in 4 out of 38 meiosis II metaphases. In one oocyte, a single chromatid was present in addition to the normal 23,X complement, and in three oocytes, two identical but s...

journal_title：Human genetics

authors： Angell RR

更新日期：1991-02-01 00:00:00