Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.

abstract：:In order to understand the role of the insulin receptor substrate-2 (IRS2) gene (chromosome region: 13q34) in obesity, a complex disorder associated with insulin resistance and glucose intolerance, we determined single nucleotide polymorphims (SNPs) and complex haplotypes in women with morbid obesity and a body mass i...

journal_title：Human genetics

authors： Lautier C,El Mkadem SA,Renard E,Brun JF,Gris JC,Bringer J,Grigorescu F

更新日期：2003-07-01 00:00:00

abstract：:A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encou...

journal_title：Human genetics

authors： Asakawa J,Satoh C,Takahashi N,Fujita M,Kaneko J,Goriki K,Hazama R,Kageoka T

更新日期：1984-01-01 00:00:00

abstract：:A total of 12 mutations associated with acute intermittent porphyria (AIP) have been detected in the porphobilinogen deaminase gene in Swedish AIP families. Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a ...

journal_title：Human genetics

authors： Lundin G,Lee JS,Thunell S,Anvret M

更新日期：1997-07-01 00:00:00

abstract：:Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...

journal_title：Human genetics

authors： Gruber C,Bogunovic D

更新日期：2020-06-01 00:00:00

abstract：:The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...

journal_title：Human genetics

authors： Mattei MG,de Thé H,Mattei JF,Marchio A,Tiollais P,Dejean A

更新日期：1988-10-01 00:00:00

abstract：:Segregation analysis of informative families for chromosome 6 markers confirmed the map order GLO--Bf--HLA-(B, C)--HLA-A, and, surprisingly, implies that PGM3 is more probably located on the HLA-A than on the HLA-B side of the linkage group. Therefore the map position of PGM3 should be reconsidered, i.e., more informa...

journal_title：Human genetics

authors： Schunter F,Wernet P,Kömpf J,Bissbort S,Göhler F

更新日期：1978-11-16 00:00:00

abstract：:Using "new" techniques (malic acid thin layer agarose gel electrophoresis and/or isoelectric focusing), the polymorphism of the human red cell isozyme system esterase D (ESD) was shown to be extended. We report the gene frequencies observed among 312 unrelated Caucasian individuals living in the Düsseldorf area. The f...

journal_title：Human genetics

authors： Henke J,Schweitzer H,Bär W,Weidinger S,Weissmann J,Baur MP

更新日期：1986-05-01 00:00:00

abstract：:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...

journal_title：Human genetics

authors： Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama K

更新日期：1989-12-01 00:00:00

abstract：:DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...

journal_title：Human genetics

authors： Hundrieser J,Sanguansermsri T,Papp T,Laig M,Flatz G

更新日期：1988-09-01 00:00:00

abstract：:Partial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus arteriosus, dysmorphic features, and T-cell abnormalities. The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examina...

journal_title：Human genetics

authors： Greenberg F,Crowder WE,Paschall V,Colon-Linares J,Lubianski B,Ledbetter DH

更新日期：1984-01-01 00:00:00

abstract：:With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...

journal_title：Human genetics

authors： Kim H,Kim SY,Joly Y

更新日期：2018-08-01 00:00:00

abstract：:Complex investigation of a spontaneous abortus with monosomy 21 was carried out. Phenotypic expression at the organism and tissue level was characterized by the pathology of the external form of the embryo and by abnormalities of the embryonic facial structures, the stomodeum, the anterior part of the primary gut, and...

journal_title：Human genetics

authors： Kuliev AM,Grinberg KN,Kukharenko VI,Kulazenko VP,Bogomazov EA

更新日期：1977-09-22 00:00:00

abstract：:Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...

journal_title：Human genetics

authors： Teng YS,Tan SG,Lopez CG,Ng T,Lie-Injo LE

更新日期：1978-04-24 00:00:00

abstract：:Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...

journal_title：Human genetics

authors： McDonough CW,Bostrom MA,Lu L,Hicks PJ,Langefeld CD,Divers J,Mychaleckyj JC,Freedman BI,Bowden DW

更新日期：2009-12-01 00:00:00

abstract：:A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...

journal_title：Human genetics

authors： Krasnopolskaya XD,Shatskaya TL

更新日期：1987-03-01 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 Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

journal_title：Human genetics

authors： Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

更新日期：1997-05-01 00:00:00

abstract：:In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where ...

journal_title：Human genetics

authors： Schwartz M,Anvret M,Claustres M,Eiken HG,Eiklid K,Schaedel C,Stolpe L,Tranebjaerg L

更新日期：1994-02-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-f...

journal_title：Human genetics

authors： Cooper DN,Youssoufian H

更新日期：1988-02-01 00:00:00

abstract：:A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...

journal_title：Human genetics

authors： Smith A,Noel M

更新日期：1980-01-01 00:00:00

abstract：:Out of a population of 138,598 infants born in southern Poland between 1987 and 1989, and screened for phenylketonuria (PKU), 28 cases were ascertained probands and their parents were isolated and eight polymorphic restriction sites were analyzed within the phenylalanine hydroxylase gene region. Twenty-one different h...

journal_title：Human genetics

authors： Zygulska M,Eigel A,Aulehla-Scholz C,Pietrzyk JJ,Horst J

更新日期：1991-01-01 00:00:00

abstract：:A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...

journal_title：Human genetics

authors： Schwaller J,Chen T,Fey MF,Tobler A

更新日期：1993-11-01 00:00:00

abstract：:Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression. Previous ge...

journal_title：Human genetics

authors： Raizis AM,Ferguson MM,George PM

更新日期：2000-07-01 00:00:00

abstract：:Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these ge...

journal_title：Human genetics

authors： Xu R,Feng S,Li Z,Fu Y,Yin P,Ai Z,Liu W,Yu X,Li M

更新日期：2014-10-01 00:00:00

abstract：:The identification of genomic rearrangements involving more than 0.5 kb of the BRCA1 gene has confirmed a more complex mutation spectrum than was initially appreciated. Genomic rearrangements in BRCA1 represent 15% of all mutations in a group of French and American breast and ovarian cancer families and 36% of all mut...

journal_title：Human genetics

authors： Rohlfs EM,Chung CH,Yang Q,Skrzynia C,Grody WW,Graham ML,Silverman LM

更新日期：2000-10-01 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：:Most genetic studies recruit high risk families and the discoveries are based on non-random selected groups. We must consider the consequences of this ascertainment process in order to apply the results of genetic research to the general population. In previous reports, we developed a latent variable model to assess t...

journal_title：Human genetics

authors： Feng R,Zhang H

更新日期：2006-05-01 00:00:00

abstract：:The phenotypes of glyoxalase I (GLO) were determined in a random population from Hessen (Germany) by high-voltage agarose gel electrophoresis. The gene frequencies in 1150 unrelated individuals were 0.4391 for GLO1 and 0.5609 fro GLO2. Rare phenotypes were not observed. The segregation of phenotypes in 50 families an...

journal_title：Human genetics

authors： Kühnl P,Schwabenland R,Spielmann W

更新日期：1977-08-31 00:00:00

abstract：:Different populations suffer from different rates of obesity and type-2 diabetes (T2D). Little is known about the genetic or adaptive component, if any, that underlies these differences. Given the cultural, geographic, and dietary variation that accumulated among humans over the last 60,000 years, we examined whether ...

journal_title：Human genetics

authors： Klimentidis YC,Abrams M,Wang J,Fernandez JR,Allison DB

更新日期：2011-04-01 00:00:00