Kalirin: a novel genetic risk factor for ischemic stroke.

abstract：:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...

journal_title：Human genetics

authors： Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JT

更新日期：2002-09-01 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：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 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：:Lactose tolerance tests with conventional blood glucose determination and with breath hydrogen analysis after storage of breath samples in aluminium aerosol cans were simultaneously performed in 60 healthy adult subjects. Both tests were equally reliable in the diagnosis of the lactase phenotype in healthy persons. In...

journal_title：Human genetics

authors： Howell JN,Schockenhoff T,Flatz G

更新日期：1981-05-01 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：:To develop a general method for analysis of the mutation and prenatal diagnosis of X-linked hyper-IgM syndrome (XHM), the human CD40 ligand (hCD40L) gene was cloned and sequenced with special reference to the 5' and 3' flanking regions and exon/intron boundaries. The hCD40L gene consists of five exons and four introns...

journal_title：Human genetics

authors： Seyama K,Kira S,Ishidoh K,Souma S,Miyakawa T,Kominami E

更新日期：1996-02-01 00:00:00

abstract：:Genomic disorders are human diseases caused by meiotic chromosomal rearrangements of unstable regions flanked by Low Copy Repeats (LCRs). LCRs act as substrates for Non-Allelic Homologous Recombination (NAHR) leading to deletions and duplications. The aim of this study was to assess the basal frequency of deletions an...

journal_title：Human genetics

authors： Molina O,Anton E,Vidal F,Blanco J

更新日期：2011-01-01 00:00:00

abstract：:The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...

journal_title：Human genetics

authors： Bhat A,Koul A,Rai E,Sharma S,Dhar MK,Bamezai RN

更新日期：2007-06-01 00:00:00

abstract：:Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by using labeled centromeric satellite DNA as probes. This approach allows the rapid identification of all human centromeres by their individual pseudo-coloring in ...

journal_title：Human genetics

authors： Nietzel A,Rocchi M,Starke H,Heller A,Fiedler W,Wlodarska I,Loncarevic IF,Beensen V,Claussen U,Liehr T

更新日期：2001-03-01 00:00:00

abstract：:Oxidative damage caused by reactive oxygen species (ROS) and other free radicals is involved in a number of pathological conditions including cancer. In a population-based case-control study of non-Hodgkin lymphoma (NHL) (n = 518 cases, 597 controls) among women in Connecticut, we analyzed one or more single nucleotid...

journal_title：Human genetics

authors： Lan Q,Zheng T,Shen M,Zhang Y,Wang SS,Zahm SH,Holford TR,Leaderer B,Boyle P,Chanock S

更新日期：2007-04-01 00:00:00

abstract：:Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In ...

journal_title：Human genetics

authors： Isozumi K,DeLong R,Kaplan J,Hung WY,Siddique T

更新日期：1997-06-01 00:00:00

abstract：:Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...

journal_title：Human genetics

authors： Ishikiriyama S,Niikawa N

更新日期：1984-01-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...

journal_title：Human genetics

authors： Low-Kam C,Rhainds D,Lo KS,Provost S,Mongrain I,Dubois A,Perreault S,Robinson JF,Hegele RA,Dubé MP,Tardif JC,Lettre G

更新日期：2016-11-01 00:00:00

abstract：:The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the ...

journal_title：Human genetics

authors： Fuhrmann W,Altland K,Köhler A,Holzgreve W,Jovanović V,Rauskolb R,Pawlowitzki IH,Miny P

更新日期：1988-01-01 00:00:00

abstract：:A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...

journal_title：Human genetics

authors： Barbi G,Steinbach P,Wiedenmann A,Vogel W

更新日期：1983-01-01 00:00:00

abstract：:Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at least in part by genetic factors [Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this stu...

journal_title：Human genetics

authors： Tung JY,Rosen MP,Nelson LM,Turek PJ,Witte JS,Cramer DW,Cedars MI,Pera RA

更新日期：2006-02-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...

journal_title：Human genetics

authors： Mackay DJ,Hahnemann JM,Boonen SE,Poerksen S,Bunyan DJ,White HE,Durston VJ,Thomas NS,Robinson DO,Shield JP,Clayton-Smith J,Temple IK

更新日期：2006-03-01 00:00:00

abstract：:To dissect the genetic architecture of sexual dimorphism in obesity-related traits, we evaluated the sex-genotype interaction, sex-specific heritability and genome-wide linkages for seven measurements related to obesity. A total of 1,365 non-diabetic Chinese subjects from the family study of the Stanford Asia-Pacific ...

journal_title：Human genetics

authors： Chiu YF,Chuang LM,Kao HY,Shih KC,Lin MW,Lee WJ,Quertermous T,Curb JD,Chen I,Rodriguez BL,Hsiung CA

更新日期：2010-11-01 00:00:00

abstract：:Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. The 21 intragenic duplications detected account for 7.9% of the total. Among these, one du...

journal_title：Human genetics

authors： Galvagni F,Saad FA,Danieli GA,Miorin M,Vitiello L,Mostacciuolo ML,Angelini C

更新日期：1994-07-01 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：:Southern African Bantu-speaking negroid and San populations were examined with regard to the glucose-6-phosphate dehydrogenase (G6PD) PvuII restriction fragment length polymorphism (RFLP) showing alleles of 4 kb and 1.6 kb, called Type 1 and Type 2, respectively. The standardized disequilibrium coefficient for the ele...

journal_title：Human genetics

authors： Coetzee MJ,Bartleet SC,Ramsay M,Jenkins T

更新日期：1992-04-01 00:00:00

abstract：:Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy b...

journal_title：Human genetics

authors： Böhme A,Cleve H,Schönitzer D,Reissigl H,Kazda S,Müller W

更新日期：1983-01-01 00:00:00

abstract：:The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...

journal_title：Human genetics

authors： Cans C,Cohen O,Lavergne C,Mermet MA,Demongeot J,Jalbert P

更新日期：1993-12-01 00:00:00

abstract：:By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...

journal_title：Human genetics

authors： Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GN

更新日期：1991-09-01 00:00:00

abstract：:Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...

journal_title：Human genetics

authors： Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo B

更新日期：1986-04-01 00:00:00

abstract：:Pairs of cultured amniotic cells and maternal fibroblasts ("feto-maternal pairs") were studied for hexosaminidase A (HXA) and arylsulfatase A (ASA) activity. These lysosomal enzyme activities are genetically deficient in Tay-Sachs disease and metachromatic leukodystrophy, respectively. After HXA was standardized by re...

journal_title：Human genetics

authors： Harzer K,Hayashi K

更新日期：1981-01-01 00:00:00

abstract：:The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...

journal_title：Human genetics

authors： Schneppenheim R,Krey S,Bergmann F,Bock D,Budde U,Lange M,Linde R,Mittler U,Meili E,Mertes G

更新日期：1994-12-01 00:00:00

abstract：:Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing loss have been reported to have been missed by newborn hearing screens. The aim of this study was to evaluate the efficacy of concurrent hear...

journal_title：Human genetics

authors： Guo L,Xiang J,Sun L,Yan X,Yang J,Wu H,Guo K,Peng J,Xie X,Yin Y,Wang J,Yang H,Shen J,Zhao L,Peng Z

更新日期：2020-04-01 00:00:00

abstract：:TransferrinC (TfC) subtypes were determined by isoelectric focusing (PAGIF) on samples from 90 carriers of the TFB and TfD alleles. In all cases of CB and CD heterozygotes only one of the two common subtypes of the TfC allele, TfC1 or TfC2, was observed. This is considered strong support for the hypothesis of two comm...

journal_title：Human genetics

authors： Kühnl P,Spielmann W,Weber W

更新日期：1979-01-19 00:00:00