Etiological study of omphalocele.

abstract：:We have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated wi...

journal_title：Human genetics

authors： Sharp A,Robinson DO,Jacobs P

更新日期：2001-09-01 00:00:00

abstract：:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...

journal_title：Human genetics

authors： Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

更新日期：2001-06-01 00:00:00

abstract：:A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t' on palms and an increase of the main line index. Although of little diagnostic value these changes must be ...

journal_title：Human genetics

authors： Mastroiacovo P,Currò V,Calabro A,Dallapiccola B

更新日期：1976-12-15 00:00:00

abstract：:We investigated whether the amount of circulating cell-free fetal DNA in maternal serum is influenced by fetal karyotype, using real-time quantitative polymerase chain reaction assay. Serum samples were obtained from pregnant women at gestational ages ranging from 15 to 17 weeks, prior to their undergoing amniocentesi...

journal_title：Human genetics

authors： Ohashi Y,Miharu N,Honda H,Samura O,Ohama K

更新日期：2001-02-01 00:00:00

abstract：:The gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization. ...

journal_title：Human genetics

authors： Sutherland GR,Baker E,Fernandez KE,Callen DF,Goodwin RG,Lupton S,Namen AE,Shannon MF,Vadas MA

更新日期：1989-07-01 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：:Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...

journal_title：Human genetics

authors： Pulst SM,Fain P,Cohn V,Nee LE,Polinsky RJ,Korenberg JR

更新日期：1991-06-01 00:00:00

abstract：:We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data fro...

journal_title：Human genetics

authors： Mondal M,Bergström A,Xue Y,Calafell F,Laayouni H,Casals F,Majumder PP,Tyler-Smith C,Bertranpetit J

更新日期：2017-05-01 00:00:00

abstract：:An easy-to-use, simulation-based power calculator (ASP) for linkage analysis using sib-pair designs (concordant or discordant) has been developed and made publicly available via the Internet. The program employs a diallelic model for the trait locus, at which parental/offspring genotypes are simulated, assuming Hardy-...

journal_title：Human genetics

authors： Krawczak M

更新日期：2001-12-01 00:00:00

abstract：:We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in link...

journal_title：Human genetics

authors： Sabol SZ,Hu S,Hamer D

更新日期：1998-09-01 00:00:00

abstract：:A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...

journal_title：Human genetics

authors： Dziuba P,Dziekanowska D,Hübner H

更新日期：1976-03-12 00:00:00

abstract：:It has recently been suggested that short expansions of CAG repeat in the gene ATXN-2 causing SCA2 (spinocerebellar ataxia type 2) are associated with an increased risk of amyotrophic lateral sclerosis (ALS) in the populations of the USA and northern Europe. In this study, we investigated the role of ATXN-2 in Italian...

journal_title：Human genetics

authors： Corrado L,Mazzini L,Oggioni GD,Luciano B,Godi M,Brusco A,D'Alfonso S

更新日期：2011-10-01 00:00:00

abstract：:B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

journal_title：Human genetics

authors： Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

更新日期：1997-04-01 00:00:00

abstract：:The marriage rate of epileptic patients was 62% in males and 78% in females. Compared with the rates in the general population, the male patients had a 15% lower rate, but there was no difference in females. There were 263 patients with at least one offspring selected for the study. There were 234 sons and 272 daughte...

journal_title：Human genetics

authors： Tsuboi T,Endo S

更新日期：1977-04-15 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：:Among 639 spontaneous abortions between the 8th and 14th week of gestation 342 (53.5%) revealed an abnormal karyotype. While the rate of trisomies distinctly increased with advancing maternal age, a decrease in the rate of 45,X conceptuses and polyploidies was observed among abortions from older women. The overall rel...

journal_title：Human genetics

authors： Neuber M,Rehder H,Zuther C,Lettau R,Schwinger E

更新日期：1993-07-01 00:00:00

abstract：:Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...

journal_title：Human genetics

authors： Schönberger J,Kühler L,Martins E,Lindner TH,Silva-Cardoso J,Zimmer M

更新日期：2005-12-01 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：:By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and ...

journal_title：Human genetics

authors： Menko FH,Bijvoet OL,Meera Khan P,Nijenhuis LE,von Loghem E,Schreuder I,Bernini LF,Pronk JC,Madan K,Went LN

更新日期：1984-01-01 00:00:00

abstract：:To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...

journal_title：Human genetics

authors： Zedenius J,Wallin G,Svensson A,Grimelius L,Höög A,Lundell G,Bäckdahl M,Larsson C

更新日期：1995-07-01 00:00:00

abstract：:Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...

journal_title：Human genetics

authors： Seth PK,Seth S

更新日期：1976-08-30 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：:Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family have been reinvestigated after 17 years. Cultures for sister chromatid...

journal_title：Human genetics

authors： Romain DR,Columbano-Green LM,Smythe RH,Parfitt RG,Gebbie OB,Chapman CJ

更新日期：1986-06-01 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：:Heteromorphisms of chromosomes 1, 9, and 16 were studied by C-banding in a population of 403 mentally retarded individuals from diverse ethnic groups. A significant difference in the distribution of heteromorphisms was found among the different racial groups. The Orientals had a larger C-band on chromosome 1 and a sma...

journal_title：Human genetics

authors： Matsuura J,Mayer M,Jacobs P

更新日期：1978-11-24 00:00:00

abstract：:Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1-15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in ...

journal_title：Human genetics

authors： Bala S,Kraus C,Wijnen J,Meera Khan P,Ballhausen WG

更新日期：1996-11-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...

journal_title：Human genetics

authors： Zuvich RL,McCauley JL,Oksenberg JR,Sawcer SJ,De Jager PL,International Multiple Sclerosis Genetics Consortium.,Aubin C,Cross AH,Piccio L,Aggarwal NT,Evans D,Hafler DA,Compston A,Hauser SL,Pericak-Vance MA,Haines JL

更新日期：2010-03-01 00:00:00

abstract：:The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By...

journal_title：Human genetics

authors： Eiberg H,Troelsen J,Nielsen M,Mikkelsen A,Mengel-From J,Kjaer KW,Hansen L

更新日期：2008-03-01 00:00:00

abstract：:Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1). MKS1 is part of the Finnish disease ...

journal_title：Human genetics

authors： Consugar MB,Kubly VJ,Lager DJ,Hommerding CJ,Wong WC,Bakker E,Gattone VH 2nd,Torres VE,Breuning MH,Harris PC

更新日期：2007-06-01 00:00:00

abstract：:Wegener's granulomatosis (WG) is a systemic disease with complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis and the presence of antineutrophil cytoplasmatic autoantibodies (C-ANCAs) in sera of patients. Here...

journal_title：Human genetics

authors： Jagiello P,Gencik M,Arning L,Wieczorek S,Kunstmann E,Csernok E,Gross WL,Epplen JT

更新日期：2004-04-01 00:00:00