394delTT: a Nordic cystic fibrosis mutation.

abstract：:The pachytene configurations formed in the ovary of a mosaic 18p-;iso 18q human foetus (22 weeks gestation) are analysed using a surface spreading technique. Three features of interest are the apparent meiotic delay of oocyte development, oocyte degeneration, and the triple pairing which occurs in one cell line when t...

journal_title：Human genetics

authors： Speed RM

更新日期：1986-03-01 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：:We present clinical, cytogenetic, and linkage data of four DNA probes from the terminal long arm of the X chromosome in ten new families with fragile X syndrome. A prior/posterior method of multipoint linkage analysis is employed to combine these results with published data to refine the linkage map of terminal Xq. Te...

journal_title：Human genetics

authors： Buchanan JA,Buckton KE,Gosden CM,Newton MS,Clayton JF,Christie S,Hastie N

更新日期：1987-06-01 00:00:00

abstract：:Familial juvenile hyperuricaemic (gouty) nephropathy (FJHN), is an autosomal dominant disease associated with a reduced fractional excretion of urate, and progressive renal failure. FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta...

journal_title：Human genetics

authors： Piret SE,Danoy P,Dahan K,Reed AA,Pryce K,Wong W,Torres RJ,Puig JG,Müller T,Kotanko P,Lhotta K,Devuyst O,Brown MA,Thakker RV

更新日期：2011-01-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have been successful in identifying and confirming novel genetic variants that are associated with diverse HIV phenotypes. However, these studies have predominantly focused on European cohorts. HLA molecules have been consistently associated with HIV outcomes, some of which have ...

journal_title：Human genetics

authors： Gingras SN,Tang D,Tuff J,McLaren PJ

更新日期：2020-06-01 00:00:00

abstract：:We describe a comparative study of the behavior of nucleolar structures and their relationship with nucleolar chromosomes and synaptonemal complexes at first meiotic prophase of human oocytes in an attempt to elucidate the nature of this cellular organization and to learn more about maternal nondisjunction. The number...

journal_title：Human genetics

authors： García M,Dietrich A,Pujol R,Egozcue J

更新日期：1989-05-01 00:00:00

abstract：:Increased levels of retinol binding protein 4 (RBP4) in serum is associated with insulin resistance. To examine this further, the genomic region of RBP4 was genetically surveyed in Mongolian people, who as a group are suffering from a recent rapid increase in diabetes. The RBP4 gene was screened by DHPLC system, and t...

journal_title：Human genetics

authors： Munkhtulga L,Nakayama K,Utsumi N,Yanagisawa Y,Gotoh T,Omi T,Kumada M,Erdenebulgan B,Zolzaya K,Lkhagvasuren T,Iwamoto S

更新日期：2007-02-01 00:00:00

abstract：:Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since ...

journal_title：Human genetics

authors： Spranger J,Bierbaum B,Herrmann J

更新日期：1976-08-30 00:00:00

abstract：:Rubella virus causes a relatively benign disease in most cases, although infection during pregnancy can result in serious birth defects. An effective vaccine has been available since the early 1970s and outbreaks typically do not occur among highly vaccinated (≥2 doses) populations. Nevertheless, considerable inter-in...

journal_title：Human genetics

authors： Kennedy RB,Ovsyannikova IG,Haralambieva IH,Lambert ND,Pankratz VS,Poland GA

更新日期：2014-11-01 00:00:00

abstract：:The genomic components identified by each of two closely related cDNA clones for the major 35 kilodalton non-serum surfactant-associated proteins (PSP-A) were shown to derive from human chromosome 10 by Southern blot analysis of DNAs from human-rodent somatic cell hybrids. By in situ hybridization to human metaphase c...

journal_title：Human genetics

authors： Bruns G,Stroh H,Veldman GM,Latt SA,Floros J

更新日期：1987-05-01 00:00:00

abstract：:Superoxide, which mitochondria mainly produce in vascular endothelial cells, plays an important role in the pathogenesis of atherosclerosis and coronary artery disease. Accordingly, mitochondrial functional differences are thought to be one of the most important factors for the risk of myocardial infarction among vari...

journal_title：Human genetics

authors： Nishigaki Y,Yamada Y,Fuku N,Matsuo H,Segawa T,Watanabe S,Kato K,Yokoi K,Yamaguchi S,Nozawa Y,Tanaka M

更新日期：2007-02-01 00:00:00

abstract：:From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones with the same inv(14) were observed in two other cases. Similar breakpoints may exist, both for t(14;14) and ...

journal_title：Human genetics

authors： Aurias A,Croquette MF,Nuyts JP,Griscelli C,Dutrillaux B

更新日期：1986-01-01 00:00:00

abstract：:We wished to determine the time of pregnancy at which optimal numbers of nucleated red blood cells (NRBC) are present in maternal blood. Because 30% of the NRBC in maternal blood are fetal, there are implications for prenatal screening and diagnosis. Samples of whole blood were collected from each of 225 women at vari...

journal_title：Human genetics

authors： Shulman LP,Phillips OP,Tolley E,Sammons D,Wachtel SS

更新日期：1998-12-01 00:00:00

abstract：:A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...

journal_title：Human genetics

authors： Jung U,Urner U,Grade K,Coutelle C

更新日期：1994-07-01 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：:Experiments have been performed to determine whether human lymphocytes in primary cultures can show an "adaptive" response to the induction of cellular lesions (manifested as a production of sister chromatid exchanges, SCEs) as previously found in bacteria and established human and mammalian cell lines. Human lymphocy...

journal_title：Human genetics

authors： Morimoto K,Sato-Mizuno M,Koizumi A

更新日期：1986-05-01 00:00:00

abstract：:Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to...

journal_title：Human genetics

authors： Yang TL,Xiong DH,Guo Y,Recker RR,Deng HW

更新日期：2006-08-01 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：: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：:A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...

journal_title：Human genetics

authors： Millar DS,Grundy CB,Bignell P,Mitchell DC,Corden D,Woods P,Kakkar VV,Cooper DN

更新日期：1993-03-01 00:00:00

abstract：:We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...

journal_title：Human genetics

authors： Wildenberg SC,King RA,Oetting WS

更新日期：1995-02-01 00:00:00

abstract：:The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the control of an imprinting center (IC). The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in br...

journal_title：Human genetics

authors： Runte M,Kroisel PM,Gillessen-Kaesbach G,Varon R,Horn D,Cohen MY,Wagstaff J,Horsthemke B,Buiting K

更新日期：2004-05-01 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：:Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution map...

journal_title：Human genetics

authors： Tapia-Páez I,O'Brien KP,Kost-Alimova M,Sahlén S,Kedra D,Bruder CE,Andersson B,Roe BA,Hu P,Imreh S,Blennow E,Dumanski JP

更新日期：2000-05-01 00:00:00

abstract：:A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...

journal_title：Human genetics

authors： Fujimaki W,Baba K,Tatara K,Umezu R,Kusakawa S,Mashima Y

更新日期：1987-07-01 00:00:00

abstract：:Databases of disease-associated or disease-causing mutations allow the study, not only of the molecular mechanisms underlying the primary lesions at the DNA level, but also of the functional consequences of mutation at the phenotypic level. The Human Gene Mutation Database (HGMD) and the bioinformatics analyses of its...

journal_title：Human genetics

authors： Knecht C,Krawczak M

更新日期：2014-04-01 00:00:00

abstract：:Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...

journal_title：Human genetics

authors： Chen Z,Takahashi M,Naruse T,Nakajima T,Chen YW,Inoue Y,Ishikawa I,Iwai T,Kimura A

更新日期：2007-11-01 00:00:00

abstract：:Although the occurrence of bladder cancer is common, the molecular events underlying the pathogenesis of this cancer remain ill-defined. A loss of heterozygosity (LOH) at specific chromosomal loci may predispose individuals to the development of bladder cancer but this has not been examined in detail. Furthermore, the...

journal_title：Human genetics

authors： Shipman R,Schraml P,Colombi M,Raefle G,Ludwig CU

更新日期：1993-06-01 00:00:00

abstract：:In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seem...

journal_title：Human genetics

authors： Wieacker P,Horn N,Pearson P,Wienker TF,McKay E,Ropers HH

更新日期：1983-01-01 00:00:00

abstract：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

journal_title：Human genetics

authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

更新日期：1996-10-01 00:00:00