Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis.

abstract：:A cosmid library was constructed from genomic DNA of a human-mouse somatic cell hybrid containing an 11q-16q translocation chromosome as the only human DNA. Cosmids with human inserts were prehybridized with total human DNA and were screened to find probes that revealed highly polymorphic loci. From one such cosmid, C...

journal_title：Human genetics

authors： Bufton L,Mohandas TK,Magenis RE,Sheehy R,Bestwick RK,Litt M

更新日期：1986-12-01 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:Using 1.2kb 3'-terminal Pst-I fragment of a full length tissue-type plasminogen activator (t-PA) cDNA clone (ptPA-8FL) and a set of rodent human somatic cell hybrids, the corresponding human gene PLAT was localized on chromosome 8. ...

journal_title：Human genetics

authors： Verheijen JH,Visse R,Wijnen JT,Chang GT,Kluft C,Meera Khan P

更新日期：1986-02-01 00:00:00

abstract：:The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short t...

journal_title：Human genetics

authors： Kayser M

更新日期：2017-05-01 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：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

journal_title：Human genetics

authors： González R,Estrada M,García M,Gutierrez A

更新日期：1980-01-01 00:00:00

abstract：:Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of en...

journal_title：Human genetics

authors： Daniele A,Di Natale P

更新日期：1987-03-01 00:00:00

abstract：:Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patients with recessive or sporadic deafness from Italy and Spain, 193 of them being referred as autosomal recessi...

journal_title：Human genetics

authors： Rabionet R,Zelante L,López-Bigas N,D'Agruma L,Melchionda S,Restagno G,Arbonés ML,Gasparini P,Estivill X

更新日期：2000-01-01 00:00:00

abstract：:We investigated whether a G123-->A mutation causing a Gly40-->Ser substitution in exon 2 of the human glucagon receptor gene, which has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) and impaired glucose tolerance (IGT) in France and Sardinia with a prevalences as high as 4.6% and ...

journal_title：Human genetics

authors： Odawara M,Tachi Y,Yamashita K

更新日期：1996-12-01 00:00:00

abstract：:Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms reduces the effort...

journal_title：Human genetics

authors： Lichter-Konecki U,Schlotter M,Konecki DS

更新日期：1994-09-01 00:00:00

abstract：:The extent of linkage equilibrium was estimated among four recently characterized human fibrinogen restriction fragment length polymorphisms (RFLPs) using a randomly selected group of 110 individuals from California. Two coding region RFLPs, RsaI and MnlI (FGA codon 312 and FGB codon 448, respectively), and two RFLPs ...

journal_title：Human genetics

authors： Baumann RE,Henschen AH

更新日期：1994-08-01 00:00:00

abstract：:As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...

journal_title：Human genetics

authors： Greiner J,Krüger J,Palden L,Jung EG,Vogel F

更新日期：1983-01-01 00:00:00

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 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：:CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...

journal_title：Human genetics

authors： Holmes SE,Wentzell JS,Seixas AI,Callahan C,Silveira I,Ross CA,Margolis RL

更新日期：2006-09-01 00:00:00

abstract：:The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...

journal_title：Human genetics

authors： Czeizel A,Vitéz M

更新日期：1981-01-01 00:00:00

abstract：:Complex diseases are far more common than diseases that follow simple Mendelian patterns of inheritance. Difficulties are experienced in the designing of experiments to dissect out the contribution of a single allele to a complex phenotype. We review the literature regarding a point mutation in methylenetetrahydrofola...

journal_title：Human genetics

authors： Fletcher O,Kessling AM

更新日期：1998-07-01 00:00:00

abstract：:Segregation analysis of informative families for chromosome 6 markers confirmed the map order GLO--Bf--HLA-(B, C)--HLA-A, and, surprisingly, implies that PGM3 is more probably located on the HLA-A than on the HLA-B side of the linkage group. Therefore the map position of PGM3 should be reconsidered, i.e., more informa...

journal_title：Human genetics

authors： Schunter F,Wernet P,Kömpf J,Bissbort S,Göhler F

更新日期：1978-11-16 00:00:00

abstract：:We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker (BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show that the frequency (68%) and distribution of deletions within the dystrophin gene was neither random nor unique in this population. We localized 33% of t...

journal_title：Human genetics

authors： Simard LR,Gingras F,Delvoye N,Vanasse M,Melançon SB,Labuda D

更新日期：1992-06-01 00:00:00

abstract：:Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE....

journal_title：Human genetics

authors： Schell-Apacik C,Rivero M,Knepper JL,Roessler E,Muenke M,Ming JE

更新日期：2003-07-01 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the synd...

journal_title：Human genetics

authors： Sokolov BP,Prytkov AN,Tromp G,Knowlton RG,Prockop DJ

更新日期：1991-12-01 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：:Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...

journal_title：Human genetics

authors： Santorsola M,Calabrese C,Girolimetti G,Diroma MA,Gasparre G,Attimonelli M

更新日期：2016-01-01 00:00:00

abstract：:Phenotypes and gene frequencies are presented for 20 serum and erythrocyte proteins in two Amerindian populations of inner French Guiana. No genetic variability was detected in 12 of these systems. Heterozygosity was calculated for the others and the reasons for its variation are discussed. ...

journal_title：Human genetics

authors： Tchen P,Bois E,Séger J,Grenand P,Feingold N,Feingold J

更新日期：1978-12-29 00:00:00

abstract：:The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...

journal_title：Human genetics

authors： Forbes SA,Richardson M,Brennan L,Arnason A,Bjornsson A,Campbell L,Moore G,Stanier P

更新日期：1995-03-01 00:00:00

abstract：:The Tai-Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages...

journal_title：Human genetics

authors： Kutanan W,Kampuansai J,Srikummool M,Kangwanpong D,Ghirotto S,Brunelli A,Stoneking M

更新日期：2017-01-01 00:00:00

abstract：:Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...

journal_title：Human genetics

authors： Wesdorp M,de Koning Gans PAM,Schraders M,Oostrik J,Huynen MA,Venselaar H,Beynon AJ,van Gaalen J,Piai V,Voermans N,van Rossum MM,Hartel BP,Lelieveld SH,Wiel L,Verbist B,Rotteveel LJ,van Dooren MF,Lichtner P,Kunst HPM,

更新日期：2018-05-01 00:00:00

abstract：:Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...

journal_title：Human genetics

authors： Roessler E,Ma Y,Ouspenskaia MV,Lacbawan F,Bendavid C,Dubourg C,Beachy PA,Muenke M

更新日期：2009-05-01 00:00:00

abstract：:A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...

journal_title：Human genetics

authors： Fujimaki W,Baba K,Tatara K,Umezu R,Kusakawa S,Mashima Y

更新日期：1987-07-01 00:00:00

abstract：:The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child a...

journal_title：Human genetics

authors： Olerup O,Luthman H,Ritzén EM,Haglund-Stengler B

更新日期：1990-10-01 00:00:00