Correlation between the number of sex chromosomes and the H-Y antigen titer.

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：:The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Mautner VF,Cooper DN

更新日期：2017-04-01 00:00:00

abstract：:A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine a...

journal_title：Human genetics

authors： Verellen-Dumoulin C,Freund M,De Meyer R,Laterre C,Frédéric J,Thompson MW,Markovic VD,Worton RG

更新日期：1984-01-01 00:00:00

abstract：:Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, ...

journal_title：Human genetics

authors： Kuroki Y,Matsui I,Yamamoto Y,Ieshima A

更新日期：1980-01-01 00:00:00

abstract：:Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...

journal_title：Human genetics

authors： Chen Z,Takahashi M,Naruse T,Nakajima T,Chen YW,Inoue Y,Ishikawa I,Iwai T,Kimura A

更新日期：2007-11-01 00:00:00

abstract：:We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...

journal_title：Human genetics

authors： Wassink TH,Losh M,Frantz RS,Vieland VJ,Goedken R,Piven J,Sheffield VC

更新日期：2005-07-01 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：:Polymorphism of the human c-Ha-ras-1 gene has been analysed in DNA from 168 individuals using the enzymes MspI and HpaII. In all, 35 bladder cancer patients, 28 melanoma patients, 22 Wilms' tumour patients, 24 first-degree relatives of Wilms' tumour or melanoma patients and 59 unaffected controls were studied. A total...

journal_title：Human genetics

authors： Hayward NK,Keegan R,Nancarrow DJ,Little MH,Smith PJ,Gardiner RA,Seymour GJ,Kidson C,Lavin MF

更新日期：1988-02-01 00:00:00

abstract：:Malaysians of Malay, Chinese, and Indian ancestries were electrophoretically phenotyped for Amy1 and saliva esterase region 1 (Set-1) from saliva, Amy2 from plasma, soluble and mitochondrial GOT and PGM3 from leukocyte and placenta. Kadazans and Bajaus, the indigenous people of Sabah, East Malaysia were surveyed for A...

journal_title：Human genetics

authors： Teng YS,Tan SG,Lopez CG,Ng T,Lie-Injo LE

更新日期：1978-04-24 00:00:00

abstract：:Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a prog...

journal_title：Human genetics

authors： Pruchno CJ,Cohn DH,Wallis GA,Willing MC,Starman BJ,Zhang XM,Byers PH

更新日期：1991-05-01 00:00:00

abstract：:Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). We performed mutation screening in a group of 20 patients, identyifing 28 mutat...

journal_title：Human genetics

authors： Tessitore A,Villani GR,Di Domenico C,Filocamo M,Gatti R,Di Natale P

更新日期：2000-12-01 00:00:00

abstract：:NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the "NALCN channelosome", consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pat...

journal_title：Human genetics

authors： Bramswig NC,Bertoli-Avella AM,Albrecht B,Al Aqeel AI,Alhashem A,Al-Sannaa N,Bah M,Bröhl K,Depienne C,Dorison N,Doummar D,Ehmke N,Elbendary HM,Gorokhova S,Héron D,Horn D,James K,Keren B,Kuechler A,Ismail S,Issa MY

更新日期：2018-09-01 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：:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...

journal_title：Human genetics

authors： Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

更新日期：1989-06-01 00:00:00

abstract：:Data for 27 cases of retinoblastoma that developed in patients with 13q- were collected from the literature and analyzed. The distribution of unilateral and bilateral cases of retinoblastoma differed significantly from the expectation that the degree of expressivity does not differ between the retinoblastoma gene and ...

journal_title：Human genetics

authors： Matsunaga E

更新日期：1980-01-01 00:00:00

abstract：:The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are invo...

journal_title：Human genetics

authors： Nordenskjöld A,Fricke G,Anvret M

更新日期：1995-07-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 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：:We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolish...

journal_title：Human genetics

authors： Tsunoda H,Ohshima T,Tohyama J,Sasaki M,Sakuragawa N,Martiniuk F

更新日期：1996-04-01 00:00:00

abstract：:The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mith...

journal_title：Human genetics

authors： Bernheim A,Miglierina R

更新日期：1989-09-01 00:00:00

abstract：:In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...

journal_title：Human genetics

authors： Müller G,Schempp W

更新日期：1989-04-01 00:00:00

abstract：:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...

journal_title：Human genetics

authors： Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

更新日期：2001-06-01 00:00:00

abstract：:A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorp...

journal_title：Human genetics

authors： Sykes BC,Ogilvie DJ,Wordsworth BP

更新日期：1985-01-01 00:00:00

abstract：:The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...

journal_title：Human genetics

authors： Weidinger S,Schwarzfischer F,Burgemeister R,Cleve H

更新日期：1984-01-01 00:00:00

abstract：:Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...

journal_title：Human genetics

authors： Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

更新日期：2020-01-16 00:00:00

abstract：:A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27 leads to Xqter region. ...

journal_title：Human genetics

authors： Chance PF,Dyer KA,Kurachi K,Yoshitake S,Ropers HH,Wieacker P,Gartler SM

更新日期：1983-01-01 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 male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a ...

journal_title：Human genetics

authors： Dallapiccola B,Chessa L,Vignetti P,Ferrante E,Gandini E

更新日期：1979-01-01 00:00:00

abstract：:A case of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte PFK deficiency without muscular symptoms is reported: erythrocyte enzyme activity in the propositus was 60% of normal. Kinetic studies of erythrocyte PFK revealed increased sensitivity to ATP inhibition and decreased sensitivity t...

journal_title：Human genetics

authors： Etiemble J,Kahn A,Boivin P,Bernard JF,Goudemand M

更新日期：1976-01-28 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