Distribution of Gd- alleles in some ethnic groups of the USSR.

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：:Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, howev...

journal_title：Human genetics

authors： LaConte LEW,Chavan V,Elias AF,Hudson C,Schwanke C,Styren K,Shoof J,Kok F,Srivastava S,Mukherjee K

更新日期：2018-03-01 00:00:00

abstract：:Familial and twin studies have shown that the individual variability of the normal human electroencephalogram (EEG) is largely genetically determined. In epileptology, these genetic parameters of the EEG background activity are almost totally neglected. The aim of the present study has been to investigate whether a sp...

journal_title：Human genetics

authors： Doose H,Castiglione E,Waltz S

更新日期：1995-12-01 00:00:00

abstract：:Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...

journal_title：Human genetics

authors： Fryns JP,Timmermans J,Hondt FD,François B,Emmery L,van den Berghe H

更新日期：1979-09-02 00:00:00

abstract：:A polymorphic BamHI site was located in the coding region of the human T cell receptor delta gene TCRDV2. Two alleles defined by the absence or the presence of the BamHI site were detected by the polymerase chain reaction. ...

journal_title：Human genetics

authors： Zhang XM,Lefranc MP

更新日期：1993-08-01 00:00:00

abstract：:A cytogenetic follow-up has been made of nine mixoploid children found among 11 148 consecutive newborn children. The frequency of the cell line with normal chromosomes increased in all but two, and the increase was statistically significant, being from 20% to 39% in four cases, and from 1% to 17% in three, while in o...

journal_title：Human genetics

authors： Nielsen J,Krag-Olsen B

更新日期：1980-01-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...

journal_title：Human genetics

authors： Mitchell SL,Goodloe R,Brown-Gentry K,Pendergrass SA,Murdock DG,Crawford DC

更新日期：2014-07-01 00:00:00

abstract：:The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...

journal_title：Human genetics

authors： Happle R

更新日期：1985-01-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...

journal_title：Human genetics

authors： Douabin-Gicquel V,Soriano N,Ferran H,Wojcik F,Palierne E,Tamim S,Jovelin T,McKie AT,Le Gall JY,David V,Mosser J

更新日期：2001-10-01 00:00:00

abstract：:Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...

journal_title：Human genetics

authors： Kalousek DK,Dill FJ,Pantzar T,McGillivray BC,Yong SL,Wilson RD

更新日期：1987-10-01 00:00:00

abstract：:Following the application of two-color fluorescence in-situ hybridization (FISH) to human interphase cells, we examined the replication timing of the fragile-X locus relative to the non-transcribed late replicating alpha-satellite region of chromosome-X, a built-in intracellular reference locus. In this assay, an unre...

journal_title：Human genetics

authors： Yeshaya J,Shalgi R,Shohat M,Avivi L

更新日期：1998-01-01 00:00:00

abstract：:A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...

journal_title：Human genetics

authors： Disteche CM,Brown L,Saal H,Friedman C,Thuline HC,Hoar DI,Pagon RA,Page DC

更新日期：1986-12-01 00:00:00

abstract：:The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...

journal_title：Human genetics

authors： Stöhr H,Klein J,Gehrig A,Koehler MR,Jurklies B,Kellner U,Leo-Kottler B,Schmid M,Weber BH

更新日期：1999-01-01 00:00:00

abstract：:Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromo...

journal_title：Human genetics

authors： Niebuhr E

更新日期：1978-06-09 00:00:00

abstract：:The incidence of exfoliated epithelial cells containing micronuclei was determined in two small human populations, one homozygous and the other heterozygous for the Bloom syndrome gene (bl). The objectives of the study were two: to learn whether the chromosome instability featured so prominently by Bloom syndrome (BS)...

journal_title：Human genetics

authors： Rosin MP,German J

更新日期：1985-01-01 00:00:00

abstract：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 00:00:00

abstract：:Deficient debrisoquine/sparteine type oxidation is inherited as an autosomal recessive trait. Of all Caucasians, 5-10% are poor metabolisers, due to the absence of cytochrome P4502D6. Extensive metabolisers (EMs) exhibit highly variable metabolic activity. We investigated the relationship between CYP2D6 activity and g...

journal_title：Human genetics

authors： Mura C,Panserat S,Vincent-Viry M,Galteau MM,Jacqz-Aigrain E,Krishnamoorthy R

更新日期：1993-10-01 00:00:00

abstract：:In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where ...

journal_title：Human genetics

authors： Schwartz M,Anvret M,Claustres M,Eiken HG,Eiklid K,Schaedel C,Stolpe L,Tranebjaerg L

更新日期：1994-02-01 00:00:00

abstract：:Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...

journal_title：Human genetics

authors： Graziano F,Biino G,Bonati MT,Neale BM,Do R,Concas MP,Vaccargiu S,Pirastu M,Terradura-Vagnarelli O,Cirillo M,Laurenzi M,Mancini M,Zanchetti A,Grassi M

更新日期：2019-07-01 00:00:00

abstract：:Genomic disorders are human diseases caused by meiotic chromosomal rearrangements of unstable regions flanked by Low Copy Repeats (LCRs). LCRs act as substrates for Non-Allelic Homologous Recombination (NAHR) leading to deletions and duplications. The aim of this study was to assess the basal frequency of deletions an...

journal_title：Human genetics

authors： Molina O,Anton E,Vidal F,Blanco J

更新日期：2011-01-01 00:00:00

abstract：:The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47, +21 cases was studied. The ...

journal_title：Human genetics

authors： Roth MP,Feingold J,Baumgarten A,Bigel P,Stoll C

更新日期：1983-01-01 00:00:00

abstract：:A 12 kb haplotype upstream of the key signaling protein gene, AKT1, has been associated with insulin resistance and metabolic syndrome (Devaney et al. 2010). The region contains the first exon and promoter sequences of AKT1, but also includes the complete transcript unit for a highly conserved yet uncharacterized zinc...

journal_title：Human genetics

authors： Devaney SA,Mate SE,Devaney JM,Hoffman EP

更新日期：2011-04-01 00:00:00

abstract：:This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...

journal_title：Human genetics

authors： Chen Y,Zhang J,Zhang L,Shen Y,Xu Q

更新日期：2012-07-01 00:00:00

abstract：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR patients. In this s...

journal_title：Human genetics

authors： Brophy PD,Alasti F,Darbro BW,Clarke J,Nishimura C,Cobb B,Smith RJ,Manak JR

更新日期：2013-12-01 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：:Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here, we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5' end of TRPS1. Based on the additional abn...

journal_title：Human genetics

authors： David D,Marques B,Ferreira C,Araújo C,Vieira L,Soares G,Dias C,Pinto M

更新日期：2013-11-01 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：:Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...

journal_title：Human genetics

authors： Nghiem PP,Kornegay JN

更新日期：2019-05-01 00:00:00

abstract：:The secondary constriction in human chromosome 1 consists of a proximal segment stained by the GC-specific fluorochrome mithramycin and a distal segment stained by such fluorochromes as DAPI or DIPI, which show enhanced fluorescence intensities in AT-rich regions of the chromosomes. A study involving 21 individuals re...

journal_title：Human genetics

authors： Sigmund J,Schwarz S

更新日期：1979-01-19 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