Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

abstract：:Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identi...

journal_title：Human genetics

authors： Brodaty H,Mitchell P,Luscombe G,Kwok JJ,Badenhop RF,McKenzie R,Schofield PR

更新日期：2002-01-01 00:00:00

abstract：:The length of 44 silver-stained human autosomal pachytene complements was shown to vary from about 300 micrometer to at least 535 micrometer. The lengths of the individual 22 autosomal chromosomes of eight complements representing this interval was measured and the relative lengths calculated. For most of the chromoso...

journal_title：Human genetics

authors： Jørgensen AL,Bak AL

更新日期：1981-01-01 00:00:00

abstract：:Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the...

journal_title：Human genetics

authors： Ballabio A,Parenti G,Napolitano E,Di Natale P,Andria G

更新日期：1985-01-01 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 loss of survival motor neuron-1 (SMN1) is responsible for the development of the neurodegenerative disorder spinal muscular atrophy (SMA). A nearly identical copy of SMN1 is present on the same chromosomal region called SMN2. While SMN2 encodes a normal SMN protein, the majority of SMN2-derived transcripts are alt...

journal_title：Human genetics

authors： Sakla MS,Lorson CL

更新日期：2008-01-01 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：:Sarcoidosis is known to be a systemic granulomatous disorder characterized by a cell-mediated Th1-type inflammatory response. To identify a key genetic factor in the pathogenesis of sarcoidosis, we investigated single nucleotide polymorphisms within 10 candidate genes involved in type 1 immune process ( IFNA17, IFNB, ...

journal_title：Human genetics

authors： Akahoshi M,Ishihara M,Remus N,Uno K,Miyake K,Hirota T,Nakashima K,Matsuda A,Kanda M,Enomoto T,Ohno S,Nakashima H,Casanova JL,Hopkin JM,Tamari M,Mao XQ,Shirakawa T

更新日期：2004-04-01 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：:One hundred normal American Blacks (B) were studied by sequential QFQ and RFA banding techniques in order to estimate the type and frequency of heteromorphisms. Color heteromorphisms were classified into one of six colors by RFA and intensity variation into one of five levels by QFQ. The data are compared with a previ...

journal_title：Human genetics

authors： Verma RS,Dosik H

更新日期：1981-01-01 00:00:00

abstract：:A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and ha...

journal_title：Human genetics

authors： Baranova H,Perriot J,Albuisson E,Ivaschenko T,Baranov VS,Hemery B,Mouraire P,Riol N,Malet P

更新日期：1997-06-01 00:00:00

abstract：:It is commonly acknowledged that estimates of heritability from classical twin studies have many potential shortcomings. Despite this, in the post-GWAS era, these heritability estimates have come to be a continual source of interest and controversy. While the heritability estimates of a quantitative trait are subject ...

journal_title：Human genetics

authors： Benchek PH,Morris NJ

更新日期：2013-12-01 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：: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：:Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discusse...

journal_title：Human genetics

authors： MacDonald IM,Cox DM

更新日期：1985-01-01 00:00:00

abstract：:A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted ...

journal_title：Human genetics

authors： Presneau N,Laplace-Marieze V,Sylvain V,Lortholary A,Hardouin A,Bernard-Gallon D,Bignon YJ

更新日期：1998-09-01 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：:The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...

journal_title：Human genetics

authors： Sofuni T,Tanabe K,Awa AA

更新日期：1980-01-01 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：:Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...

journal_title：Human genetics

authors： Guerreiro JF,Figueiredo MS,Santos SE,Zago MA

更新日期：1992-08-01 00:00:00

abstract：:Three families are reported showing transmission of a previously described variant, which is not associated with any clinical abnormality. The variant involves additional material at the band 9p12, which shows homogeneous staining of intermediate density with GTL- and RBG-banding, and negative staining with CBG-bandin...

journal_title：Human genetics

authors： Webb GC,Krumins EJ,Eichenbaum SZ,Voullaire LE,Earle E,Choó KH

更新日期：1989-04-01 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...

journal_title：Human genetics

authors： Shatskaya TL,Krasnopolskaya KD,Idelson LJ

更新日期：1976-07-27 00:00:00

abstract：:The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(...

journal_title：Human genetics

authors： Motegi T

更新日期：1981-01-01 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：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 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：:Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...

journal_title：Human genetics

authors： Rannan-Eliya SV,Taylor IB,De Heer IM,Van Den Ouweland AM,Wall SA,Wilkie AO

更新日期：2004-08-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein comple...

journal_title：Human genetics

authors： Ebermann I,Scholl HP,Charbel Issa P,Becirovic E,Lamprecht J,Jurklies B,Millán JM,Aller E,Mitter D,Bolz H

更新日期：2007-04-01 00:00:00

abstract：:The functional intronless gene coding for a calmodulin-like protein (CLP) has been localized to human chromosome 10p13-ter. Chromosomal assignment was performed by Southern blot analysis of DNA from human-rodent somatic cell hybrids and amplification of a CLP gene-specific 1090-bp DNA fragment by the polymerase chain ...

journal_title：Human genetics

authors： Berchtold MW,Koller M,Egli R,Rhyner JA,Hameister H,Strehler EE

更新日期：1993-01-01 00:00:00

abstract：:Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat sy...

journal_title：Human genetics

authors： Goodart SA,Butler MG,Overhauser J

更新日期：1996-06-01 00:00:00