A human UDP-GalNAc: polypeptide, N-acetylgalactosaminyltransferase type 1 gene is located at the chromosomal region 18q12.1.

abstract：:The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surge...

journal_title：Human genetics

authors： Martin LJ,Ramachandran V,Cripe LH,Hinton RB,Andelfinger G,Tabangin M,Shooner K,Keddache M,Benson DW

更新日期：2007-04-01 00:00:00

abstract：:H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titers; a tendency toward reduced titers can also be detected in the 47,...

journal_title：Human genetics

authors： Fraccaro M,Mayerová A,Wolf U,Bühler E,Gebauer J,Gilgenkrantz S,Lindsten J,Lo Curto F,Ritzén EM

更新日期：1982-01-01 00:00:00

abstract：:The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...

journal_title：Human genetics

authors： Vig BK

更新日期：1984-01-01 00:00:00

abstract：:Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...

journal_title：Human genetics

authors： Read AP,Thakker RV,Davies KE,Mountford RC,Brenton DP,Davies M,Glorieux F,Harris R,Hendy GN,King A

更新日期：1986-07-01 00:00:00

abstract：:Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...

journal_title：Human genetics

authors： Huang D,Yang L,Liu Y,Zhou Y,Guo Y,Pan M,Wang Y,Tan Y,Zhong H,Hu M,Lu W,Ji W,Wang J,Ran P,Zhong N,Zhou Y,Lu J

更新日期：2013-04-01 00:00:00

abstract：:Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastructural analysis. The 20-week-old fetal sib had increased concentrations...

journal_title：Human genetics

authors： Bradová V,Smíd F,Ulrich-Bott B,Roggendorf W,Paton BC,Harzer K

更新日期：1993-09-01 00:00:00

abstract：:This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (pat...

journal_title：Human genetics

authors： Verrips A,Steenbergen-Spanjers GC,Luyten JA,van den Heuvel LP,Keyser A,Gabreëls FJ,Wevers RA

更新日期：1996-12-01 00:00:00

abstract：:We have analyzed the allele frequency distribution at the highly polymorphic variable number of tandem repeat (VNTR) locus D1S80 (pMCT118) in seven ethnic populations (namely, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, American and Western Samoans, Kacharis of Nor...

journal_title：Human genetics

authors： Deka R,DeCroo S,Jin L,McGarvey ST,Rothhammer F,Ferrell RE,Chakraborty R

更新日期：1994-09-01 00:00:00

abstract：:Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...

journal_title：Human genetics

authors： Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

更新日期：2006-01-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...

journal_title：Human genetics

authors： Mackay DJ,Hahnemann JM,Boonen SE,Poerksen S,Bunyan DJ,White HE,Durston VJ,Thomas NS,Robinson DO,Shield JP,Clayton-Smith J,Temple IK

更新日期：2006-03-01 00:00:00

abstract：:The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different ...

journal_title：Human genetics

authors： Nafa K,Meriane F,Reghis A,Benabadji M,Demenais F,Guilloud-Bataille M,Sultan Y,Kaplan JC,Delpech M

更新日期：1990-04-01 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：:Plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase or chitinase (CHIT) might play a role in degrading the chitin wall of some microorganisms. In about 6% of Caucasian people the enzyme shows pseudodeficiency (defined as very low activity without apparent symptoms). We have mapped this locus by linkage a...

journal_title：Human genetics

authors： Eiberg H,Den Tandt WR

更新日期：1997-12-01 00:00:00

abstract：:This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...

journal_title：Human genetics

authors： Gottweis H,Chen H,Starkbaum J

更新日期：2011-09-01 00:00:00

abstract：:The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...

journal_title：Human genetics

authors： Fukushima N,Anakura M,Arashima S,Matsuda I,Ohsawa T

更新日期：1976-05-19 00:00:00

abstract：:Five DNA probes known to originate from the region 7q22-q31 were sublocalized by in situ hybridization to metaphase preparations of fibroblasts having besides a normal chromosome 7, a homologue 7 with an apparent interstitial deletion of a large part of band q22. A flow cytometric chromosome analysis confirmed a loss ...

journal_title：Human genetics

authors： van der Hout AH,van der Veen AY,Aten JA,Buys CH

更新日期：1988-10-01 00:00:00

abstract：:During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...

journal_title：Human genetics

authors： Beck M

更新日期：2007-03-01 00:00:00

abstract：:The inactivated X chromosome has a site of unusually frequent folding in region Xq1, whereas a fold in Xq1 is uncommon on the active X. We investigated the pattern of X chromosome folding in high-resolution GTG- and RBG-stained preparations from four women. In early metaphase cells, slightly more than 50% of late-repl...

journal_title：Human genetics

authors： Van Dyke DL,Worsham M,Weiss L

更新日期：1987-09-01 00:00:00

abstract：:IL2RG, the gene encoding the common gamma chain, gamma c, of the receptor for interleukin-2 and other cytokines, has been identified as the disease gene for severe combined immunodeficiency (SCID) of the X-linked type. Specific mutational diagnosis for X-linked SCID has thus become possible. For many women at risk for...

journal_title：Human genetics

authors： Puck JM,Middelton L,Pepper AE

更新日期：1997-05-01 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：: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：:We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...

journal_title：Human genetics

authors： Barni N,Talmud PJ,Carlsson P,Azoulay M,Darnfors C,Harding D,Weil D,Grzeschik KH,Bjursell G,Junien C

更新日期：1986-08-01 00:00:00

abstract：:A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. ...

journal_title：Human genetics

authors： Piantanida M,Dellavecchia C,Floridia G,Giglio S,Hoeller H,Dordi B,Danesino C,Schinzel A,Zuffardi O

更新日期：1997-06-01 00:00:00

abstract：:The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...

journal_title：Human genetics

authors： Schneppenheim R,Krey S,Bergmann F,Bock D,Budde U,Lange M,Linde R,Mittler U,Meili E,Mertes G

更新日期：1994-12-01 00:00:00

abstract：:In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...

journal_title：Human genetics

authors： Rappold GA

更新日期：1993-10-01 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：:Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric co...

journal_title：Human genetics

authors： Yurov YB,Laurent AM,Marcais B,Vorsanova SG,Roizes G

更新日期：1995-03-01 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：:Our purpose is to assess whether genotypes of the vitamin D receptor (VDR) and estrogen receptor (ER) and their interaction influence changes in bone mass in postmenopausal Caucasian women with and without hormone replacement therapy (HRT). A population of 108 US Mid-West women who participated in a study of low-dose ...

journal_title：Human genetics

authors： Deng HW,Li J,Li JL,Johnson M,Gong G,Davis KM,Recker RR

更新日期：1998-11-01 00:00:00

abstract：:Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concl...

journal_title：Human genetics

authors： Zakrzewski S,Koch M,Sperling K

更新日期：1983-01-01 00:00:00