Ala45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis.

abstract：:Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical a...

journal_title：Human genetics

authors： Grody WW,Kern RM,Klein D,Dodson AE,Wissman PB,Barsky SH,Cederbaum SD

更新日期：1993-03-01 00:00:00

abstract：:Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalise...

journal_title：Human genetics

authors： Connell F,Kalidas K,Ostergaard P,Brice G,Homfray T,Roberts L,Bunyan DJ,Mitton S,Mansour S,Mortimer P,Jeffery S,Lymphoedema Consortium.

更新日期：2010-02-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

journal_title：Human genetics

authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

更新日期：1995-07-01 00:00:00

abstract：:The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surge...

journal_title：Human genetics

authors： Martin LJ,Ramachandran V,Cripe LH,Hinton RB,Andelfinger G,Tabangin M,Shooner K,Keddache M,Benson DW

更新日期：2007-04-01 00:00:00

abstract：:Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed ...

journal_title：Human genetics

authors： Cowell JK,Rutland P,Jay M,Hungerford J

更新日期：1986-02-01 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:The karyotype of leukemic cells was studied in 88 acute nonlymphocytic leukemia (ANLL) patients. Chromosome abnormalities were discovered in 78.4% of all patients and in 72.5% of the 69 patients studied before treatment. Characteristic abnormalities: translocations 8;21, 15;17, 9;22 or 6;9, rearrangements of 11q, gain...

journal_title：Human genetics

authors： Prigogina EL,Fleischman EW,Puchkova GP,Mayakova SA,Volkova MA,Protasova AK,Frenkel MA

更新日期：1986-06-01 00:00:00

abstract：:A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of car...

journal_title：Human genetics

authors： Rosendaal FR,Bröcker-Vriends AH,van Houwelingen JC,Smit C,Varekamp I,van Dijck H,Suurmeijer TP,Vandenbroucke JP,Briët E

更新日期：1990-12-01 00:00:00

abstract：:Air pollution is recognized as causal factor for cardiovascular disease (CVD) and is associated with multiple CVD risk factors. Substantial research effort has been invested in understanding the linkages between genetic variation and CVD risk, resulting in over 50 CVD-associated genetic loci. More recently, gene-air p...

journal_title：Human genetics

authors： Ward-Caviness CK

更新日期：2019-06-01 00:00:00

abstract：:We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. T...

journal_title：Human genetics

authors： Zschocke J,Hoffmann GF

更新日期：1999-05-01 00:00:00

abstract：:Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans worldwide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (-13907, -13910 and -13915) of the lact...

journal_title：Human genetics

authors： Olds LC,Ahn JK,Sibley E

更新日期：2011-01-01 00:00:00

abstract：:Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...

journal_title：Human genetics

authors： Hayward NK,Keegan R,Nancarrow DJ,Little MH,Smith PJ,Gardiner RA,Seymour GJ,Kidson C,Lavin MF

更新日期：1988-02-01 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：:A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...

journal_title：Human genetics

authors： Dumanski JP,Geurts van Kessel AH,Ruttledge M,Wladis A,Sugawa N,Collins VP,Nordenskjöld M

更新日期：1990-02-01 00:00:00

abstract：:We have developed a new enzyme-linked immunosorbent assay for determination of H-Y phenotype in the human. This assay, which measures the inhibition of the reaction of a monoclonal anti-H-Y antibody and a mouse testis extract as a source of H-Y antigen, was applied to the supernatant of lymphocytes from ten normal mal...

journal_title：Human genetics

authors： Farber CM,Liebenthal D,Wachtel SS,Cunningham-Rundles C

更新日期：1984-01-01 00:00:00

abstract：:Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene wit...

journal_title：Human genetics

authors： Krug T,Manso H,Gouveia L,Sobral J,Xavier JM,Albergaria I,Gaspar G,Correia M,Viana-Baptista M,Simões RM,Pinto AN,Taipa R,Ferreira C,Fontes JR,Silva MR,Gabriel JP,Matos I,Lopes G,Ferro JM,Vicente AM,Oliveira SA

更新日期：2010-03-01 00:00:00

abstract：:High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...

journal_title：Human genetics

authors： Xiao X,Sun W,Ouyang J,Li S,Jia X,Tan Z,Hejtmancik JF,Zhang Q

更新日期：2019-10-01 00:00:00

abstract：:Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has b...

journal_title：Human genetics

authors： Chery M,Biancalana V,Philippe C,Malpuech G,Carla H,Gilgenkrantz S,Mandel JL,Hanauer A

更新日期：1994-05-01 00:00:00

abstract：:Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...

journal_title：Human genetics

authors： Yamakawa-Kobayashi K,Kobayashi T,Obara T,Hamaguchi H

更新日期：1993-08-01 00:00:00

abstract：:Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuola...

journal_title：Human genetics

authors： Campos-Xavier AB,Saraiva JM,Ribeiro LM,Munnich A,Cormier-Daire V

更新日期：2003-02-01 00:00:00

abstract：:The development of next-generation sequencing technologies has opened-up some new possibilities to explore the contribution of genetic variants to human diseases and in particular that of rare variants. Statistical methods have been developed to test for association with rare variants that require the definition of te...

journal_title：Human genetics

authors： Bocher O,Génin E

更新日期：2020-11-01 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...

journal_title：Human genetics

authors： Hes F,Zewald R,Peeters T,Sijmons R,Links T,Verheij J,Matthijs G,Leguis E,Mortier G,van der Torren K,Rosman M,Lips C,Pearson P,van der Luijt R

更新日期：2000-04-01 00:00:00

abstract：:Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...

journal_title：Human genetics

authors： Salomon J,Goulet O,Canioni D,Brousse N,Lemale J,Tounian P,Coulomb A,Marinier E,Hugot JP,Ruemmele F,Dufier JL,Roche O,Bodemer C,Colomb V,Talbotec C,Lacaille F,Campeotto F,Cerf-Bensussan N,Janecke AR,Mueller T,Kolet

更新日期：2014-03-01 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：: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：:To provide a more precise genetic map of the p22.3-p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observ...

journal_title：Human genetics

authors： Alitalo T,Kruse TA,Ahrens P,Albertsen HM,Eriksson AW,de la Chapelle A

更新日期：1991-04-01 00:00:00

abstract：:Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during chi...

journal_title：Human genetics

authors： St Pourcain B,Haworth CM,Davis OS,Wang K,Timpson NJ,Evans DM,Kemp JP,Ronald A,Price T,Meaburn E,Ring SM,Golding J,Hakonarson H,Plomin R,Davey Smith G

更新日期：2015-06-01 00:00:00

abstract：:Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...

journal_title：Human genetics

authors： Krepinsky AB,Heddle JA,German J

更新日期：1979-01-01 00:00:00

abstract：:The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...

journal_title：Human genetics

authors： Tchen P,Bois E,Feingold J,Feingold N,Kaplan J

更新日期：1977-09-22 00:00:00

abstract：:Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...

journal_title：Human genetics

authors： Egeo A,Mazzocco M,Sotgia F,Arrigo P,Oliva R,Bergonòn S,Nizetic D,Rasore-Quartino A,Scartezzini P

更新日期：1998-03-01 00:00:00