Cytologic observations in 35 individuals with a 5p- karyotype.

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：:We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of sl...

journal_title：Human genetics

authors： Brehm A,Pereira L,Kivisild T,Amorim A

更新日期：2003-12-01 00:00:00

abstract：:In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR...

journal_title：Human genetics

authors： Dreesen JC,Geraedts JP,Dumoulin JC,Evers JL,Pieters MH

更新日期：1995-09-01 00:00:00

abstract：:We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...

journal_title：Human genetics

authors： Yurov YB,Soloviev IV,Vorsanova SG,Marcais B,Roizes G,Lewis R

更新日期：1996-03-01 00:00:00

abstract：:A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated fro...

journal_title：Human genetics

authors： Beck S,Schmitt H,Shizuya H,Blin N,Gött P

更新日期：1996-08-01 00:00:00

abstract：:A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 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：:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and...

journal_title：Human genetics

authors： Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

更新日期：1988-01-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for tra...

journal_title：Human genetics

authors： Cavalli M,Pan G,Nord H,Wallerman O,Wallén Arzt E,Berggren O,Elvers I,Eloranta ML,Rönnblom L,Lindblad Toh K,Wadelius C

更新日期：2016-05-01 00:00:00

abstract：:Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented f...

journal_title：Human genetics

authors： Mulley JC,Nicholls C,Sutherland GR

更新日期：1983-01-01 00:00:00

abstract：:Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...

journal_title：Human genetics

authors： Gänshirt-Ahlert D,Pawlowitzki IH,Gal A

更新日期：1987-06-01 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：: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：:Transient neonatal diabetes mellitus (TNDM) is associated with overexpression of an imprinted locus on chromosome 6q24; this locus contains a differentially methylated region (DMR) consisting of an imprinted CpG island that normally allows expression only from the paternal allele of genes under its control. Three type...

journal_title：Human genetics

authors： Mackay DJ,Temple IK,Shield JP,Robinson DO

更新日期：2005-03-01 00:00:00

abstract：:A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase ch...

journal_title：Human genetics

authors： Stark M,Assum G,Kaufmann D,Kehrer H,Krone W

更新日期：1992-12-01 00:00:00

abstract：:A gene for early-onset familial breast cancer has recently been mapped to the chromosome 17q12-23 region. In order to confirm the gene location, we have tested an extensive early-onset breast cancer family with 4 markers in this chromosome region. Linkage was negative with all 4 markers. This study suggests that there...

journal_title：Human genetics

authors： Sobol H,Mazoyer S,Narod SA,Smith SA,Black DM,Kerbrat P,Jamot B,Solomon E,Ponder BA,Guerin D

更新日期：1992-06-01 00:00:00

abstract：:Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...

journal_title：Human genetics

authors： Bartholomé K,Olek K,Trefz F

更新日期：1984-01-01 00:00:00

abstract：:We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...

journal_title：Human genetics

authors： Halley DJ,Veeze HJ,Sandkuyl LA,Wesby-van Swaay E,van Damme NH,Deelen WH,Witte JE,Niermeijer MF

更新日期：1990-09-01 00:00:00

abstract：:A method is introduced for simultaneously using multiple loci to estimate admixture and test goodness of fit of the model of admixture. Deviation of observed frequencies from expectation caused by sources of error such as sampling and/or drift is allowed for all loci in all populations. This allows investigation of th...

journal_title：Human genetics

authors： Wijsman EM

更新日期：1984-01-01 00:00:00

abstract：:A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The rep...

journal_title：Human genetics

authors： Turleau C,Chavin-Colin F,de Grouchy J,Repessé G,Beauvais P

更新日期：1977-06-10 00:00:00

abstract：:Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizin...

journal_title：Human genetics

authors： Cantú JM,Rivas F,Hernández-Jáuregui P,Díaz M,Cortés-Gallegos V,Vaca G,Velázquez A,Ibarra B

更新日期：1981-01-01 00:00:00

abstract：:Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a delet...

journal_title：Human genetics

authors： Harteveld CL,Kriek M,Bijlsma EK,Erjavec Z,Balak D,Phylipsen M,Voskamp A,di Capua E,White SJ,Giordano PC

更新日期：2007-11-01 00:00:00

abstract：:There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...

journal_title：Human genetics

authors： Soares PA,Trejaut JA,Rito T,Cavadas B,Hill C,Eng KK,Mormina M,Brandão A,Fraser RM,Wang TY,Loo JH,Snell C,Ko TM,Amorim A,Pala M,Macaulay V,Bulbeck D,Wilson JF,Gusmão L,Pereira L,Oppenheimer S,Lin M,Richards MB

更新日期：2016-03-01 00:00:00

abstract：:Fetal DNA in maternal plasma and serum has been shown to be a useful material for fetal gender determination and for screening tests for abnormal pregnancies except during early gestational ages. Maternal serum samples were obtained from 81 pregnant women during the 5th-10th weeks of gestation. Fetal gender was determ...

journal_title：Human genetics

authors： Honda H,Miharu N,Ohashi Y,Samura O,Kinutani M,Hara T,Ohama K

更新日期：2002-01-01 00:00:00

abstract：:A locus, LP, that determines quantitative variation of Lp(a) lipoprotein phenotypes is linked to the plasminogen (PLG) locus (peak lod score = 12.73). This linkage relationship assigns a locus with alleles that have an affect on risk for coronary artery disease to the long arm of chromosome 6. ...

journal_title：Human genetics

authors： Weitkamp LR,Guttormsen SA,Schultz JS

更新日期：1988-05-01 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：:In total, 1218 Chinese from twelve ethnic groups and nine Han geographic groups were screened for the mtDNA 9-bp deletion motif. The frequency of the 9-bp deletion in all samples was 14.7% but ranged from 0% to 32% in the various ethnic groups. Three individuals had a triplication of the 9-bp segment. Phylogenetic and...

journal_title：Human genetics

authors： Yao YG,Watkins WS,Zhang YP

更新日期：2000-11-01 00:00:00

abstract：:To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11...

journal_title：Human genetics

authors： Kanavakis E,Tzetis M,Antoniadi T,Traeger-Synodinos J,Doudounakis S,Adam G,Matsaniotis N,Kattamis C

更新日期：1995-09-01 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：: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