Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds.

abstract：:X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently b...

journal_title：Human genetics

authors： Schwartz M,Blichfeldt S,Müller J

更新日期：1997-01-01 00:00:00

abstract：:Bone size (BS) is one of the major risk factors for osteoporotic fractures. BS variation is genetically determined to a substantial degree with heritability over 50%, but specific genes underlying variation of BS are still largely unknown. To identify specific genes for BS in Chinese, initial genome-wide association s...

journal_title：Human genetics

authors： Lei SF,Shen H,Yang TL,Guo Y,Dong SS,Xu XH,Deng FY,Tian Q,Liu YJ,Liu YZ,Li J,Deng HW

更新日期：2012-03-01 00:00:00

abstract：:The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...

journal_title：Human genetics

authors： Gomes V,Pala M,Salas A,Álvarez-Iglesias V,Amorim A,Gómez-Carballa A,Carracedo Á,Clarke DJ,Hill C,Mormina M,Shaw MA,Dunne DW,Pereira R,Pereira V,Prata MJ,Sánchez-Diz P,Rito T,Soares P,Gusmão L,Richards MB

更新日期：2015-09-01 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：: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：: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：:Spi1 is an oncogene specifically activated in acute murine erythroleukemias induced by the Friend spleen focus forming virus (SFFV). Three probes were used for the chromosomal assignment of the human SPI1 oncogene: cDb1 and RaB2 correspond respectively to murine Spi1 and human SPI1 cDNA probes; C45a6B probe is a murin...

journal_title：Human genetics

authors： Nguyen VC,Ray D,Gross MS,de Tand MF,Frézal J,Moreau-Gachelin F

更新日期：1990-05-01 00:00:00

abstract：:Carriers of the deltaccr5 allele, which contains a deletion of 32 bases in relation to the normal allele of the beta-chemokine receptor gene (CCR5), have increased resistance to HIV-1 infection. The higher frequency of this mutation in Europeans than in Blacks and Asians, has generated interest in determining its dist...

journal_title：Human genetics

authors： Leboute AP,de Carvalho MW,Simões AL

更新日期：1999-11-01 00:00:00

abstract：:The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused by an abnormally expanded CGG repeat within the first exon of the fragile X mental retardation (FMR1) gene that ...

journal_title：Human genetics

authors： de Vries BB,Mohkamsing S,van den Ouweland AM,Halley DJ,Niermeijer MF,Oostra BA,Willemsen R

更新日期：1998-10-01 00:00:00

abstract：:Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic sut...

journal_title：Human genetics

authors： Schinzel A,Hayashi K,Schmid W

更新日期：1976-04-15 00:00:00

abstract：:Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...

journal_title：Human genetics

authors： Yoshida S,Yamaji Y,Yoshida A,Noda Y,Kumano Y,Ishibashi T

更新日期：2005-05-01 00:00:00

abstract：:A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis. ...

journal_title：Human genetics

authors： Millar DS,Grundy CB,Bignell P,Mitchell DC,Corden D,Woods P,Kakkar VV,Cooper DN

更新日期：1993-03-01 00:00:00

abstract：:A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...

journal_title：Human genetics

authors： Leschot NJ,Lim KS

更新日期：1979-02-15 00:00:00

abstract：:Only two genome-wide association (GWA) screens have been published for melanoma (Nat Genet 47:920-925, 2009; Nat Genet 40:838-840, 2008). Using a unique approach, we performed a genome-wide association study in 156 related melanoma cases from 34 high-risk Utah pedigrees. Genome-wide association analysis was performed ...

journal_title：Human genetics

authors： Teerlink C,Farnham J,Allen-Brady K,Camp NJ,Thomas A,Leachman S,Cannon-Albright L

更新日期：2012-01-01 00:00:00

abstract：:A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...

journal_title：Human genetics

authors： Barbi G,Steinbach P,Wiedenmann A,Vogel W

更新日期：1983-01-01 00:00:00

abstract：:A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...

journal_title：Human genetics

authors： Dumanski JP,Geurts van Kessel AH,Ruttledge M,Wladis A,Sugawa N,Collins VP,Nordenskjöld M

更新日期：1990-02-01 00:00:00

abstract：:We identified eight candidate thinness predisposition variants from the Illumina HumanExome chip genotyped on members of pedigrees selected for either healthy thinness or severe obesity. For validation, we tested the candidates for association with healthy thinness in additional pedigree members while accounting for e...

journal_title：Human genetics

authors： Hasstedt SJ,Coon H,Xin Y,Adams TD,Hunt SC

更新日期：2016-02-01 00:00:00

abstract：:Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...

journal_title：Human genetics

authors： Rives N,Mazurier S,Bellet D,Joly G,Macé B

更新日期：1998-06-01 00:00:00

abstract：:Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological,...

journal_title：Human genetics

authors： Maddirevula S,Awartani K,Coskun S,AlNaim LF,Ibrahim N,Abdulwahab F,Hashem M,Alhassan S,Alkuraya FS

更新日期：2020-05-01 00:00:00

abstract：:Among 639 spontaneous abortions between the 8th and 14th week of gestation 342 (53.5%) revealed an abnormal karyotype. While the rate of trisomies distinctly increased with advancing maternal age, a decrease in the rate of 45,X conceptuses and polyploidies was observed among abortions from older women. The overall rel...

journal_title：Human genetics

authors： Neuber M,Rehder H,Zuther C,Lettau R,Schwinger E

更新日期：1993-07-01 00:00:00

abstract：:The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...

journal_title：Human genetics

authors： Waye JS,Eng B,Hunt JA,Chui DH

更新日期：1994-11-01 00:00:00

abstract：:Based upon aberrant segregation of glutamate pyruvate-transaminase (GPT) and reduced enzyme activity on electrophoresis, seven new families with a GPT null allele were identified during genetic linkage analysis for a number of different traits. ...

journal_title：Human genetics

authors： Sparkes MC,Crist M,Sparkes RS

更新日期：1983-01-01 00:00:00

abstract：:Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could ...

journal_title：Human genetics

authors： Höhler T,Botto M,Rittner C,Schneider PM,Meyer zum Büschenfelde KH

更新日期：1995-11-01 00:00:00

abstract：:Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...

journal_title：Human genetics

authors： Ouma C,Davenport GC,Garcia S,Kempaiah P,Chaudhary A,Were T,Anyona SB,Raballah E,Konah SN,Hittner JB,Vulule JM,Ong'echa JM,Perkins DJ

更新日期：2012-02-01 00:00:00

abstract：:Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rin...

journal_title：Human genetics

authors： Maraschio P,Danesino C,Garau A,Saputo V,Vigi V,Volpato S

更新日期：1979-04-27 00:00:00

abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

journal_title：Human genetics

authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

更新日期：1992-05-01 00:00:00

abstract：:Cytogenetic preparations from oocytes remaining unfertilised after in vitro fertilisation revealed single chromatids (as opposed to whole chromosomes) in 4 out of 38 meiosis II metaphases. In one oocyte, a single chromatid was present in addition to the normal 23,X complement, and in three oocytes, two identical but s...

journal_title：Human genetics

authors： Angell RR

更新日期：1991-02-01 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：:In the present study, the possible role of genetic polymorphism of three drug-metabolizing enzymes, debrisoquine/sparteine hydroxylase (CYP2D6), glutathione S-transferase mu (GSTM1), and N-acetyltransferase (NAT2), as a putative genetic component of human longevity, was explored. A total of 817 DNA samples from a cent...

journal_title：Human genetics

authors： Muiras ML,Verasdonck P,Cottet F,Schächter F

更新日期：1998-05-01 00:00:00

abstract：:This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...

journal_title：Human genetics

authors： Hunter AG,Martsolf JT,Baker CG,Reed MH

更新日期：1978-02-16 00:00:00