Assignment of the human hap retinoic acid receptor RAR beta gene to the p24 band of chromosome 3.


:The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3.


Hum Genet


Human genetics


Mattei MG,de Thé H,Mattei JF,Marchio A,Tiollais P,Dejean A




Has Abstract


1988-10-01 00:00:00












  • Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes.

    abstract::In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Tchirkov A,Bay JO,Pernin D,Bignon YJ,Rio P,Grancho M,Kwiatkowski F,Giollant M,Malet P,Verrelle P

    更新日期:1997-12-01 00:00:00

  • Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.

    abstract::In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt-Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, and studied a zebrafish model. The PTHS-patient was characterized by high...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Brockschmidt A,Filippi A,Charbel Issa P,Nelles M,Urbach H,Eter N,Driever W,Weber RG

    更新日期:2011-11-01 00:00:00

  • Mosaic maternal ancestry in the Great Lakes region of East Africa.

    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

    pub_type: 杂志文章


    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

  • Genetic heterogeneity of early-onset familial breast cancer.

    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

    pub_type: 杂志文章


    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

  • The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.

    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

    pub_type: 杂志文章


    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

  • Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.

    abstract::A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Jung U,Urner U,Grade K,Coutelle C

    更新日期:1994-07-01 00:00:00

  • Discrepancy between G and R bands. Example of an acute non-lymphocytic leukemia.

    abstract::An apparently different chromosome abnormality was observed in unstimulated blood cultures from an acute non-lymphocytic leukemic child: 11q- with G banding techniques and 17q- with R banding techniques. The abnormality is explained as a t(11;17) translocation, and the discrepancy between the G- and R-band patterns di...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Berger R,Bernheim A,Schaison G

    更新日期:1981-01-01 00:00:00

  • A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome.

    abstract::We have isolated an X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60%. This probe has been assigned to Xq28 by physical and genetic mapping and is very closely linked to DXS52, DXS15, and the coagulation factor VIII gene (F8C). The best estima...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Vincent A,Kretz C,Oberlé I,Mandel JL

    更新日期:1989-04-01 00:00:00

  • Cell morphology in long-term cultures of normal and abnormal amniotic fluids.

    abstract::The cell morphology of long-term cultures of amniotic fluid cells from 10 fetuses with a neural tube defect (NTD) and three with omphalocele was examined and compared to 30 long-term cultures of normal amniotic fluids as well as a long-term culture of human fetal brain. Cultures from the amniotic fluids of the fetuses...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Medina-Gómez P,Johnston TH

    更新日期:1982-01-01 00:00:00

  • Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci.

    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

    pub_type: 杂志文章


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

    更新日期:1989-06-01 00:00:00

  • Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor.

    abstract::In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression m...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Polani PE

    更新日期:1982-01-01 00:00:00

  • Mapping of the kinesin-related gene ATSV to chromosome 2q37.

    abstract::The human ATSV (axonal transporter of synaptic vesicles) gene encodes an anterograde axonal motor transport protein and demonstrates homology to the kinesin gene family in several species. The human ATSV gene was mapped to chromosome 2q37 by screening of a human/rodent somatic cell hybrid panel by the polymerase chain...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Keller MP,Seifried BA,Rabin BA,Chance PF

    更新日期:1999-03-01 00:00:00

  • Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?

    abstract::A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated w...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Rehder H,Coerdt W,Eggers R,Klink F,Schwinger E

    更新日期:1989-07-01 00:00:00

  • The genetic architecture of morphological abnormalities of the sperm tail.

    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

    pub_type: 杂志文章,评审


    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

  • Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy.

    abstract::We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy (DM). A peak lod score of 9.29 at 2 cM was observed for APOC1-DM, with a lod score of 8.55 at 4 cM for CYP2A-DM. These two markers also show close li...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Walsh KV,Harley HG,Brook JD,Rundle SA,Sarfarazi M,Harper PS,Shaw DJ

    更新日期:1990-08-01 00:00:00

  • Genetic testing and risk assessment for spinal muscular atrophy (SMA).

    abstract::Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typic...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Ogino S,Wilson RB

    更新日期:2002-12-01 00:00:00

  • Manifestation of the fragile site Xq27 in fibroblasts. III. A method to demonstrate R-type replication patterns and the fragile site.

    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

    pub_type: 杂志文章


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

    更新日期:1983-01-01 00:00:00

  • Three glucose 6-phosphate dehydrogenase variants found in Japan.

    abstract::Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Miwa SH,Nakashima K,Ono J,Fujii H,Suzuki E

    更新日期:1977-05-10 00:00:00

  • Alport syndrome: a genetic study of 31 families.

    abstract::Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: M'Rad R,Sanak M,Deschenes G,Zhou J,Bonaiti-Pellie C,Holvoet-Vermaut L,Heuertz S,Gubler MC,Broyer M,Grunfeld JP

    更新日期:1992-12-01 00:00:00

  • Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.

    abstract::A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

    更新日期:1989-07-01 00:00:00

  • Organization and genomic distribution of "82H" alpha satellite DNA. Evidence for a low-copy or single-copy alphoid domain located on human chromosome 14.

    abstract::We have investigated the organization and genomic distribution of sequences homologous to p82H, a cloned human alpha satellite sequence purported, based on previous in situ hybridization experiments, to exist at the centromere of each human chromosome. We report here that, using Southern blotting analysis under condit...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Waye JS,Mitchell AR,Willard HF

    更新日期:1988-01-01 00:00:00

  • c-Ha-ras-1 alleles in bladder cancer, Wilms' tumour and malignant melanoma.

    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

    pub_type: 杂志文章


    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

  • Growth retardation in Wolf-Hirschhorn syndrome.

    abstract::Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe growth retardation and marked microcephaly. In spite of severe retardation, these patients (with one exception) survived beyond infancy. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Fujimoto A,Wilson MG

    更新日期:1990-02-01 00:00:00

  • Chromosome 1 in human colorectal tumors. Cytogenetic research on structural changes and their significance.

    abstract::The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Couturier-Turpin MH,Esnous C,Louvel A,Poirier Y,Couturier D

    更新日期:1992-02-01 00:00:00

  • Cholesteryl ester transfer protein gene haplotypes, plasma high-density lipoprotein levels and the risk of coronary heart disease.

    abstract::High-density lipoprotein cholesterol (HDL-C) is a known inverse predictor of coronary heart disease (CHD) and is thus a potential therapeutic target. Cholesteryl ester transfer protein (CETP) is a key protein in HDL-C metabolism such that elevated CETP activity is associated with lower HDL-C. Currently available HDL-C...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: McCaskie PA,Beilby JP,Chapman CM,Hung J,McQuillan BM,Thompson PL,Palmer LJ

    更新日期:2007-05-01 00:00:00

  • Partial trisomy 6p.

    abstract::A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Bernheim A,Berger R,Vaugier G,Thieffry JC,Matet Y

    更新日期:1979-04-17 00:00:00

  • CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region.

    abstract::The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Hudson LL,Rocca K,Song YW,Pandey JP

    更新日期:2002-10-01 00:00:00

  • SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

    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

    pub_type: 杂志文章


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

    更新日期:2003-07-01 00:00:00

  • The human lactase persistence-associated SNP -13910*T enables in vivo functional persistence of lactase promoter-reporter transgene expression.

    abstract::Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Fang L,Ahn JK,Wodziak D,Sibley E

    更新日期:2012-07-01 00:00:00

  • Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).

    abstract::Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Crotty PL,Whitley CB

    更新日期:1992-11-01 00:00:00