Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

abstract：:We have used the human-sperm/hamster-egg system to compare the frequencies of structural and numerical chromosomal aberrations in 909 sperm karyotypes from four normal healthy men. The frequency of structural aberrations was 1.3, 4.8, 9.0, and 10.4% respectively in the four donors. Certain specific breakpoints were se...

journal_title：Human genetics

authors： Brandriff B,Gordon L,Ashworth L,Watchmaker G,Carrano A,Wyrobek A

更新日期：1984-01-01 00:00:00

abstract：:Complex diseases are far more common than diseases that follow simple Mendelian patterns of inheritance. Difficulties are experienced in the designing of experiments to dissect out the contribution of a single allele to a complex phenotype. We review the literature regarding a point mutation in methylenetetrahydrofola...

journal_title：Human genetics

authors： Fletcher O,Kessling AM

更新日期：1998-07-01 00:00:00

abstract：:A Monte Carlo simulation procedure was used to estimate the exact level of the standardized X2 test statistic (Xs2) for randomness in the FSM methodology for the identification of fragile sites from chromosomal breakage data for single individuals. A random-number generator was used to simulate 10,000 chromosomal brea...

journal_title：Human genetics

authors： Greenbaum IF,Fulton JK,White ED,Dahm PF

更新日期：1997-11-01 00:00:00

abstract：:Many recent studies have established that haplotype diversity in a small region may not be greatly diminished when the number of markers is reduced to a smaller set of "haplotype-tagging" single-nucleotide polymorphisms (SNPs) that identify the most common haplotypes. These studies are motivated by the assumption that...

journal_title：Human genetics

authors： Zhang W,Collins A,Morton NE

更新日期：2004-07-01 00:00:00

abstract：:The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...

journal_title：Human genetics

authors： Therman E,Sarto GE,Stubblefield PA

更新日期：1983-01-01 00:00:00

abstract：:Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of en...

journal_title：Human genetics

authors： Daniele A,Di Natale P

更新日期：1987-03-01 00:00:00

abstract：:This study was undertaken to evaluate the efficiency of flow cytometry in the detection of the serological H-Y antigen, and to survey expression of H-Y in the normal human population. Peripheral blood leukocytes (granulocytes) were reacted with monoclonal H-Y antibody, gw-16, and with FITC-conjugated goat anti-mouse I...

journal_title：Human genetics

authors： Kent M,Wachtel S,Thaler HT

更新日期：1990-06-01 00:00:00

abstract：:Coffin-Lowry syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes RSK2, a serine/threonine kinase acting in the MAPK/ERK pathway. The mouse invalidated for the Rps6ka3 (Rsk2-KO) gene displays learning and long-term spatial memory defi...

journal_title：Human genetics

authors： Mehmood T,Schneider A,Sibille J,Marques Pereira P,Pannetier S,Ammar MR,Dembele D,Thibault-Carpentier C,Rouach N,Hanauer A

更新日期：2011-03-01 00:00:00

abstract：:The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...

journal_title：Human genetics

authors： Hampe W,Rezgaoui M,Hermans-Borgmeyer I,Schaller HC

更新日期：2001-06-01 00:00:00

abstract：:Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we report three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. There were strong, but not always complete,...

journal_title：Human genetics

authors： Beckman LE,Van Landeghem GF,Sikström C,Beckman L

更新日期：1998-02-01 00:00:00

abstract：:The spinal muscular atrophy (SMA) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious mutations in the survival motor neuron 1 (SMN1) gene cause SMA, a common lethal childhood neuropathy. We have used a number of approaches to probe the evolutionary history of these genes and sh...

journal_title：Human genetics

authors： Rochette CF,Gilbert N,Simard LR

更新日期：2001-03-01 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 cDNA for the human catalytic subunit (C beta) of cAMP-dependent protein kinase (PKA) has been cloned from a testis cDNA library. In the present study, we have determined the chromosomal localization of this gene using a cDNA for C beta as a probe. Southern blot analysis of genomic DNA from human/mouse cell hybrids r...

journal_title：Human genetics

authors： Simard J,Bérubé D,Sandberg M,Grzeschik KH,Gagné R,Hansson V,Jahnsen T

更新日期：1992-03-01 00:00:00

abstract：:A "new" low incidence red cell antigen, NFLD, is described. It was found in a Caucasian family and is inherited as an autosomal dominant. The antigen is not part of the AB0, MNSs, Duffy, Kidd, or Yt blood group systems and probably does not belong to the Rh or Kell blood group systems. ...

journal_title：Human genetics

authors： Lewis M,Kaita H,Allderdice PW,Bergren M,McAlpine PJ

更新日期：1984-01-01 00:00:00

abstract：:The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, an...

journal_title：Human genetics

authors： Notarangelo LD,Parolini O,Albertini A,Duse M,Mazzolari E,Plebani A,Camerino G,Ugazio AG

更新日期：1991-12-01 00:00:00

abstract：:Although microsatellite typing is the dominant method in genome research and indirect gene diagnosis, precise relationships of exonic and adjacent simple repeat polymorphisms are not known. We investigated exon 2 sequences of HLA-DRB1 genes and their neighbouring (GT)n(GA)m repeats including the intervening single cop...

journal_title：Human genetics

authors： Epplen C,Santos EJ,Guerreiro JF,van Helden P,Epplen JT

更新日期：1997-03-01 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：:Familial and twin studies have shown that the individual variability of the normal human electroencephalogram (EEG) is largely genetically determined. In epileptology, these genetic parameters of the EEG background activity are almost totally neglected. The aim of the present study has been to investigate whether a sp...

journal_title：Human genetics

authors： Doose H,Castiglione E,Waltz S

更新日期：1995-12-01 00:00:00

abstract：:We compared the fragile X (fraX) expression in T and B lymphocytes from four hemizygous males with fraX. Blood cultures were stimulated with a T cell mitogen (phytohemagglutinin:PHA) and with a B cell mitogen (pokeweed mitogen:PWM). A significant decrease in fraX expression was observed in cultures stimulated with PWM...

journal_title：Human genetics

authors： Marchese CA,Lin MS,Wilson MG

更新日期：1984-01-01 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：:We have analyzed the allele frequency distribution at the highly polymorphic variable number of tandem repeat (VNTR) locus D1S80 (pMCT118) in seven ethnic populations (namely, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, American and Western Samoans, Kacharis of Nor...

journal_title：Human genetics

authors： Deka R,DeCroo S,Jin L,McGarvey ST,Rothhammer F,Ferrell RE,Chakraborty R

更新日期：1994-09-01 00:00:00

abstract：:This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...

journal_title：Human genetics

authors： Hunter AG,Martsolf JT,Baker CG,Reed MH

更新日期：1978-02-16 00:00:00

abstract：:Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...

journal_title：Human genetics

authors： Guerreiro JF,Figueiredo MS,Santos SE,Zago MA

更新日期：1992-08-01 00:00:00

abstract：:cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...

journal_title：Human genetics

authors： Singh S,Jantke I,Simon M,Meybohm I,Boldyreff B,Issinger O,Goedde HW

更新日期：1994-04-01 00:00:00

abstract：:A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations. ...

journal_title：Human genetics

authors： Limon J,Filipiuk J,Nedoszytko B,Mrózek K,Castrén M,Larramendy M,Roszkiewicz J

更新日期：1991-07-01 00:00:00

abstract：:While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...

journal_title：Human genetics

authors： Bademci G,Abad C,Incesulu A,Rad A,Alper O,Kolb SM,Cengiz FB,Diaz-Horta O,Silan F,Mihci E,Ocak E,Najafi M,Maroofian R,Yilmaz E,Nur BG,Duman D,Guo S,Sant DW,Wang G,Monje PV,Haaf T,Blanton SH,Vona B,Walz K,Te

更新日期：2018-07-01 00:00:00

abstract：:Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...

journal_title：Human genetics

authors： Ray M,Pearson J

更新日期：1979-04-27 00:00:00

abstract：:A polymorphism was identified in 3' untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G-->A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving fr...

journal_title：Human genetics

authors： Ramus SJ,Cotton RG

更新日期：1995-12-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment ...

journal_title：Human genetics

authors： Wang MH,Fiocchi C,Zhu X,Ripke S,Kamboh MI,Rebert N,Duerr RH,Achkar JP

更新日期：2014-05-01 00:00:00

abstract：:Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one pro...

journal_title：Human genetics

authors： Oosthuizen CJ,Herbert JS,Vermaak LK,Brusnicky J,Fricke J,du Plessis L,Retief AE

更新日期：1990-07-01 00:00:00