TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

abstract：:The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles A...

journal_title：Human genetics

authors： Kömpf J,Siebert G,Ritter H

更新日期：1979-10-01 00:00:00

abstract：:Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal basement membrane. Mutations in any of the three genes encoding the alpha3, beta3 and ...

journal_title：Human genetics

authors： Mühle C,Jiang QJ,Charlesworth A,Bruckner-Tuderman L,Meneguzzi G,Schneider H

更新日期：2005-01-01 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：: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：:Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, such mutations have recently been described in a few autistic patients. In this study, a large sample of individuals with a...

journal_title：Human genetics

authors： Beyer KS,Blasi F,Bacchelli E,Klauck SM,Maestrini E,Poustka A,International Molecular Genetic Study of Autism Consortium (IMGSAC).

更新日期：2002-10-01 00:00:00

abstract：:The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

journal_title：Human genetics

authors： Kraus C,Ballhausen WG

更新日期：1992-03-01 00:00:00

abstract：:A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...

journal_title：Human genetics

authors： Leschot NJ,Lim KS

更新日期：1979-02-15 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：:Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...

journal_title：Human genetics

authors： Schuh-Huerta SM,Johnson NA,Rosen MP,Sternfeld B,Cedars MI,Reijo Pera RA

更新日期：2012-11-01 00:00:00

abstract：:The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromosome X in the Xq28 band. Ca2+ ATPase isoform-3 (ATP2B3) has also been...

journal_title：Human genetics

authors： Smolenicka Z,Guerini D,Carafoli E,Kress W,Liechti-Gallati S

更新日期：1996-12-01 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：:A Monte Carlo simulation procedure was used to estimate the exact level of the standardized X2 test statistic (Xs2) for randomness in the FSM methodology for the identification of fragile sites from chromosomal breakage data for single individuals. A random-number generator was used to simulate 10,000 chromosomal brea...

journal_title：Human genetics

authors： Greenbaum IF,Fulton JK,White ED,Dahm PF

更新日期：1997-11-01 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：:Fanconi anemia (FA) cells show an increased sensitivity to 8-methoxypsoralen (8-MOP) plus UVa treatment; after an initial reduction of their semiconservative DNA synthesis rate, they do not recover like normal cells. We microinjected extracts from normal cells into FA fibroblasts from complementation group A and deter...

journal_title：Human genetics

authors： Gök MM,Wunder E

更新日期：1987-04-01 00:00:00

abstract：:The pachytene configurations formed in the ovary of a mosaic 18p-;iso 18q human foetus (22 weeks gestation) are analysed using a surface spreading technique. Three features of interest are the apparent meiotic delay of oocyte development, oocyte degeneration, and the triple pairing which occurs in one cell line when t...

journal_title：Human genetics

authors： Speed RM

更新日期：1986-03-01 00:00:00

abstract：:Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...

journal_title：Human genetics

authors： Dryja TP,Bruns GA,Gallie B,Petersen R,Green W,Rapaport JM,Albert DM,Gerald PS

更新日期：1983-01-01 00:00:00

abstract：:A polymorphism was identified in 3' untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G-->A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving fr...

journal_title：Human genetics

authors： Ramus SJ,Cotton RG

更新日期：1995-12-01 00:00:00

abstract：:Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs...

journal_title：Human genetics

authors： Jordan DK,Burns TL,Divelbiss JE,Woolson RF,Patil SR

更新日期：1990-10-01 00:00:00

abstract：:Several studies have reported that a variant allele (S2) of the apolipoprotein (apo) A-I/C-III/A-IV complex is associated with hyperlipoproteinemia in some populations and that the frequency of this allele is two- to fivefold higher in patients with premature coronary heart disease (CHD) than in healthy controls. In t...

journal_title：Human genetics

authors： Bai H,Saku K,Liu R,Imamura M,Arakawa K

更新日期：1995-01-01 00:00:00

abstract：:Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...

journal_title：Human genetics

authors： Ferguson-Smith MA,Aitken DA,Turleau C,de Grouchy J

更新日期：1976-09-10 00:00:00

abstract：:Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with ...

journal_title：Human genetics

authors： Okur V,Cho MT,Henderson L,Retterer K,Schneider M,Sattler S,Niyazov D,Azage M,Smith S,Picker J,Lincoln S,Tarnopolsky M,Brady L,Bjornsson HT,Applegate C,Dameron A,Willaert R,Baskin B,Juusola J,Chung WK

更新日期：2016-07-01 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：:Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication w...

journal_title：Human genetics

authors： Utsch B,Becker K,Brock D,Lentze MJ,Bidlingmaier F,Ludwig M

更新日期：2002-05-01 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：: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 spinal muscular atrophy (SMA) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious mutations in the survival motor neuron 1 (SMN1) gene cause SMA, a common lethal childhood neuropathy. We have used a number of approaches to probe the evolutionary history of these genes and sh...

journal_title：Human genetics

authors： Rochette CF,Gilbert N,Simard LR

更新日期：2001-03-01 00:00:00

abstract：:Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in ...

journal_title：Human genetics

authors： Waltes R,Duketis E,Knapp M,Anney RJ,Huguet G,Schlitt S,Jarczok TA,Sachse M,Kämpfer LM,Kleinböck T,Poustka F,Bölte S,Schmötzer G,Voran A,Huy E,Meyer J,Bourgeron T,Klauck SM,Freitag CM,Chiocchetti AG

更新日期：2014-06-01 00:00:00

abstract：:This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation. ...

journal_title：Human genetics

authors： Der Kaloustian VM,Masri R,Khudr A,Talj F,Libbus B,Nabulsi M,Khouri FP

更新日期：1987-01-01 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：: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