Association of three-gene interaction among MTHFR, ALOX5AP and NOTCH3 with thrombotic stroke: a multicenter case-control study.

abstract：:The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diag...

journal_title：Human genetics

authors： Simoni G,Fraccaro M,Arslanian A,Bacchetta M,Baccichetti C,Bignone FA,Cagiano A,Carbonara AO,Carozzi F,Cuoco C,Bricarelli FD,Dallapiccola B,Dalprà L,Carbone LD,Ferranti G,Filippi G,Frateschi M,Gimelli G,Gualtieri RM,

更新日期：1982-01-01 00:00:00

abstract：:Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore,...

journal_title：Human genetics

authors： Naumova AK,Al Tuwaijri A,Morin A,Vaillancourt VT,Madore AM,Berlivet S,Kohan-Ghadr HR,Moussette S,Laprise C

更新日期：2013-07-01 00:00:00

abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

journal_title：Human genetics

authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

更新日期：2004-06-01 00:00:00

abstract：:Susceptibility to viral bronchiolitis, the commonest cause of infant admissions to hospital in the industrialised world, is associated with polymorphism at the IL8 locus. Here we map the genomic boundaries of the disease association by case-control analysis and TDT in 580 affected UK infants. Markers for association m...

journal_title：Human genetics

authors： Hull J,Rowlands K,Lockhart E,Sharland M,Moore C,Hanchard N,Kwiatkowski DP

更新日期：2004-02-01 00:00:00

abstract：:A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was...

journal_title：Human genetics

authors： Bender K,Mauff G,Hitzeroth HW

更新日期：1977-09-22 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：:In a pilot study, the possible influence of the inherited electroencephalogram (EEG) pattern on aspects of psychologic maturation was investigated. The twin sample consisted of 208 pairs, 110 monozygotic (MZ) and 98 dizygotic (DZ), mostly children and adolescents. The study showed a greater similarity between MZ compa...

journal_title：Human genetics

authors： Vogel F,Schalt E,Krüger J,Klarich G

更新日期：1982-01-01 00:00:00

abstract：:Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...

journal_title：Human genetics

authors： Jenderny J,Köster E,Meyer A,Borchers O,Grote W,Harms D,Jänig U

更新日期：1995-12-01 00:00:00

abstract：:Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented f...

journal_title：Human genetics

authors： Mulley JC,Nicholls C,Sutherland GR

更新日期：1983-01-01 00:00:00

abstract：:A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...

journal_title：Human genetics

authors： Chockkalingam K,Board PG,Nurse GT

更新日期：1982-01-01 00:00:00

abstract：:Using dual-laser sorted chromosomes and spot-blot analysis, we have previously assigned genomic DNA sequences coding for human alpha 1 (IV) procollagen to chromosome 13 (Pihlajaniemi et al. 1985). By in situ hybridization to normal chromosomes and chromosomes with 13q deletions, we now report the localization of this ...

journal_title：Human genetics

authors： Boyd CD,Weliky K,Toth-Fejel S,Deak SB,Christiano AM,Mackenzie JW,Sandell LJ,Tryggvason K,Magenis E

更新日期：1986-10-01 00:00:00

abstract：:This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...

journal_title：Human genetics

authors： Gottweis H,Chen H,Starkbaum J

更新日期：2011-09-01 00:00:00

abstract：:A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...

journal_title：Human genetics

authors： Cappa F,Caridi G,Gimelli G,Ghiggeri GM

更新日期：1995-05-01 00:00:00

abstract：:Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). We performed mutation screening in a group of 20 patients, identyifing 28 mutat...

journal_title：Human genetics

authors： Tessitore A,Villani GR,Di Domenico C,Filocamo M,Gatti R,Di Natale P

更新日期：2000-12-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mut...

journal_title：Human genetics

authors： Konecki DS,Schlotter M,Trefz FK,Lichter-Konecki U

更新日期：1991-08-01 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine. We have rece...

journal_title：Human genetics

authors： Raz T,Barrett T,Szargel R,Mandel H,Neufeld EJ,Nosaka K,Viana MB,Cohen N

更新日期：1998-10-01 00:00:00

abstract：:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...

journal_title：Human genetics

authors： Pérez-Castillo A,Martín-Lucas MA,Abrisqueta JA

更新日期：1986-01-01 00:00:00

abstract：:It is shown by discontinuous sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis of human red cell membranes, followed by periodic acid Schiff (PAS) staining and densitometry, that the band PAS-3 (monomeric Ss glycoprotein) exhibits a polymorphism with respect to its staining intensity. In membranes of the ...

journal_title：Human genetics

authors： Dahr W,Uhlenbruck G,Schmalisch R,Janssen E

更新日期：1976-05-19 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：:Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...

journal_title：Human genetics

authors： Basel-Vanagaite L,Yilmaz R,Tang S,Reuter MS,Rahner N,Grange DK,Mortenson M,Koty P,Feenstra H,Farwell Gonzalez KD,Sticht H,Boddaert N,Désir J,Anyane-Yeboa K,Zweier C,Reis A,Kubisch C,Jewett T,Zeng W,Borck G

更新日期：2014-07-01 00:00:00

abstract：:An infant exposed to high levels of lead in utero was found to have increased numbers of cells with chromosome breaks in blood samples obtained at 6 weeks and 3 months of life. Later samples did not show significant abnormality. Physical and neurological examinations of the patient up to 18 months of age gave results ...

journal_title：Human genetics

authors： Qazi QH,Madahar C,Yuceoglu AM

更新日期：1980-02-01 00:00:00

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 00:00:00

abstract：:Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizin...

journal_title：Human genetics

authors： Cantú JM,Rivas F,Hernández-Jáuregui P,Díaz M,Cortés-Gallegos V,Vaca G,Velázquez A,Ibarra B

更新日期：1981-01-01 00:00:00

abstract：:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

journal_title：Human genetics

authors： Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

更新日期：2013-11-01 00:00:00

abstract：:A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization (FISH) techniques was used to map a series of DNA markers relative to the 1q21 breakpoint of the renal cell carcinoma (RCC)-associated (X;1)-(p11;q21) translocation. This breakpoint maps betw...

journal_title：Human genetics

authors： Weterman MA,Wilbrink M,Dijkhuizen T,van den Berg E,Geurts van Kessel A

更新日期：1996-07-01 00:00:00

abstract：:A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform case-controlled studies in patients with fragile X syndrome, we studied MCH in erythrocytes from transgenic mice with an Fmr1 knockout. None of the knockout mice showed ...

journal_title：Human genetics

authors： Reyniers E,Van Bockstaele DR,De Boulle K,Kooy RF,Bakker CE,Oostra BA,Willems PJ

更新日期：1996-01-01 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 polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...

journal_title：Human genetics

authors： Singh MK,Pandey UB,Ghoshal UC,Srivenu I,Kapoor VK,Choudhuri G,Mittal B

更新日期：2004-02-01 00:00:00

abstract：:The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...

journal_title：Human genetics

authors： Couturier-Turpin MH,Esnous C,Louvel A,Poirier Y,Couturier D

更新日期：1992-02-01 00:00:00