Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes.

abstract：:CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequenc...

journal_title：Human genetics

authors： Millar DS,Green PJ,Zoll B,Kakkar VV,Cooper DN

更新日期：1991-05-01 00:00:00

abstract：:DNA patterns from a pseudoautosomal variable number tandem repeat-like minisatellite (locus DXYS20) were compared in two samples: a Caucasian and a Black sample. We defined 3 types of DNA patterns named A, B and C, and found that these patterns have different frequencies in the Caucasian and Black groups. A set of all...

journal_title：Human genetics

authors： Rappold GA,Henke A,Pohlschmid M,Huisman TH

更新日期：1992-03-01 00:00:00

abstract：:Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature th...

journal_title：Human genetics

authors： Lecomte MC,Dhermy D,Garbarz M,Feo C,Gautero H,Bournier O,Picat C,Chaveroche I,Ester A,Galand C

更新日期：1985-01-01 00:00:00

abstract：:Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen-debranching enzyme (AGL). Recent studies of the AGL gene have revealed the prevalent mutations in North African Jewish and Caucasian populations, but whether these common mutations are present in other...

journal_title：Human genetics

authors： Okubo M,Horinishi A,Takeuchi M,Suzuki Y,Sakura N,Hasegawa Y,Igarashi T,Goto K,Tahara H,Uchimoto S,Omichi K,Kanno H,Hayasaka K,Murase T

更新日期：2000-01-01 00:00:00

abstract：:In order to investigate the molecular basis of phenylketonuria (PKU) in Spain, we analyzed the restriction fragment length polymorphism (RFLP) haplotypes and common mutations in the phenylalanine hydroxylase (PAH) gene in 32 unrelated Spanish PKU families. The distribution of RFLP haplotypes differs from that of north...

journal_title：Human genetics

authors： Desviat LR,Pérez B,Ugarte M

更新日期：1993-10-01 00:00:00

abstract：:We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 ...

journal_title：Human genetics

authors： Casals T,Nunes V,Palacio A,Giménez J,Gaona A,Ibáñez N,Morral N,Estivill X

更新日期：1993-03-01 00:00:00

abstract：:We propose a Bayesian hierarchical mixture model framework that allows us to investigate the genetic and environmental effects, gene by gene interactions and gene by environment interactions in the same model. Our approach incorporates the natural hierarchical structure between the main effects and interaction effects...

journal_title：Human genetics

authors： Liu C,Ma J,Amos CI

更新日期：2015-01-01 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...

journal_title：Human genetics

authors： Helmken C,Hofmann Y,Schoenen F,Oprea G,Raschke H,Rudnik-Schöneborn S,Zerres K,Wirth B

更新日期：2003-12-01 00:00:00

abstract：:The effect of treatment with 8-methoxypsoralen (8-MOP) plus near-UV radiation (UVA) or with X-rays on the rate of DNA semi-conservative synthesis of fibroblasts from 10 Fanconi anemia (FA), two heterozygous, and three normal cell lines was studied. Following treatments with either X-rays or low doses of 8-MOP plus UVA...

journal_title：Human genetics

authors： Moustacchi E,Diatloff-Zito C

更新日期：1985-01-01 00:00:00

abstract：:Experiments were performed in order to gain information about the primary process leading to the production of sister chromatid exchanges (SCEs). Radical-forming substances (hydroxylamine, hydrazine and the antituberculous drug isoniazid) were examined for their effectiveness in inducing SCEs. All three substances pro...

journal_title：Human genetics

authors： Speit G,Wick C,Wolf M

更新日期：1980-01-01 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 gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization. ...

journal_title：Human genetics

authors： Sutherland GR,Baker E,Fernandez KE,Callen DF,Goodwin RG,Lupton S,Namen AE,Shannon MF,Vadas MA

更新日期：1989-07-01 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：: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：:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...

journal_title：Human genetics

authors： Stenson PD,Mort M,Ball EV,Evans K,Hayden M,Heywood S,Hussain M,Phillips AD,Cooper DN

更新日期：2017-06-01 00:00:00

abstract：:Intracellular phenylalanine and tyrosine was determined in lymphocytes of 10 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being sta...

journal_title：Human genetics

authors： Thalhammer O,Lubec G,Königshofer H

更新日期：1979-07-18 00:00:00

abstract：:Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or 'chromosome states' at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive X chromosome, the proposed third ('mutated') allele can permanently block rea...

journal_title：Human genetics

authors： Yu WD,Wenger SL,Steele MW

更新日期：1990-10-01 00:00:00

abstract：:Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to con...

journal_title：Human genetics

authors： Reis LM,Tyler RC,Muheisen S,Raggio V,Salviati L,Han DP,Costakos D,Yonath H,Hall S,Power P,Semina EV

更新日期：2013-07-01 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：: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：:The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...

journal_title：Human genetics

authors： Oksche A,Möller A,Dickson J,Rosendahl W,Rascher W,Bichet DG,Rosenthal W

更新日期：1996-11-01 00:00:00

abstract：:Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...

journal_title：Human genetics

authors： Fang L,Ahn JK,Wodziak D,Sibley E

更新日期：2012-07-01 00:00:00

abstract：:The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreo...

journal_title：Human genetics

authors： Weber G,Grimmond S,Lagercrantz J,Friedman E,Phelan C,Carson E,Hayward N,Jacobovitz O,Nordenskjöld M,Larsson C

更新日期：1997-01-01 00:00:00

abstract：:5'-Bromodeoxyuridine (BrdU) present in the course of late S and G2 phases of the cell cycle in PHA-stimulated human lymphocyte cultures causes the despiralization and elongation of some chromosome regions, including short arms of acrocentric chromosomes. BrdU present at a concentration of 250 microM during the last 10...

journal_title：Human genetics

authors： Musilová J,Michalová K,Hoffmanová H

更新日期：1983-01-01 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：:The motor neuron diseases (MND) are a group of related neurodegenerative diseases that cause the relative selective progressive death of motor neurons. These diseases range from slowly progressive forms including hereditary motor neuropathy (HMN), to the rapidly progressive disorder amyotrophic lateral sclerosis (ALS)...

journal_title：Human genetics

authors： Gopinath S,Blair IP,Kennerson ML,Durnall JC,Nicholson GA

更新日期：2007-06-01 00:00:00

abstract：:We investigated common length polymorphisms in the hypervariable region located 3' to the human gene encoding apolipoprotein B (APOB 3' HVR) as part of the "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)" study. PDAY is a multicenter study of young persons who died of external causes (accident, homici...

journal_title：Human genetics

authors： Hixson JE,Powers PK,McMahan CA

更新日期：1993-06-01 00:00:00

abstract：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:A study was conducted on the feasibility of isolating genes and pseudogenes that map to chromosome 13 by a hybridization-based approach using a 13-specific library and pools of repeat-free cDNA clones. Five pairs of cDNA and chromosome 13 genomic clones were identified and characterized. Partial or full-length sequenc...

journal_title：Human genetics

authors： de Fatima Bonaldo M,Jelenc P,Su L,Lawton L,Yu MT,Warburton D,Soares MB

更新日期：1996-04-01 00:00:00

abstract：:Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to identify additional novel breast cancer susceptibility variants and to rep...

journal_title：Human genetics

authors： Sehrawat B,Sridharan M,Ghosh S,Robson P,Cass CE,Mackey JR,Greiner R,Damaraju S

更新日期：2011-10-01 00:00:00