Zobrazeno 1 - 10
of 36
pro vyhledávání: '"F. Barichard"'
Autor:
Fabienne Prieur, Anne Puech, Marie-Françoise Berthéas, Manfred Gessler, F. Barichard, Claudine Junien, G. A. P. Bruns, Isabelle Henry, Marcel M.A.M. Mannens, Jan M.N. Hoovers
Publikováno v:
Genes, chromosomes & cancer, 7(1), 57-62. Wiley-Liss Inc.
Scopus-Elsevier
Scopus-Elsevier
The combined use of qualitative and quantitative analysis of I I p I 3 polymorphic markers tagether with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to I I p allowed us to characterize a complex rearrangeme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c5ff2c6e8356846ebb21e170bfbd642
https://pure.amc.nl/en/publications/pericentric-intrachromosomal-insertion-responsible-for-recurrence-of-del11p13p14-in-a-family(d5defb2d-d015-41c8-a9d7-1dbd321f9a8b).html
https://pure.amc.nl/en/publications/pericentric-intrachromosomal-insertion-responsible-for-recurrence-of-del11p13p14-in-a-family(d5defb2d-d015-41c8-a9d7-1dbd321f9a8b).html
Autor:
H Nicolas, M O Rethoré, P. Couillin, B Quack, M Azoulay, F. Barichard, B Noel, Claudine Junien, C Lavedan, D. Molina Gomez
Publikováno v:
Cytogenetic and Genome Research. 50:70-74
We describe a family in whom the phenotypically normal father carries a balanced insertional translocation, ins(14;11)(q23;p12p14). This individual fathered three mentally retarded children, two with a del(11)(p13) and one with a dup(11)(p13). Two ot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::873bd7bf2eb5959e0820bdbc05831c38
https://doi.org/10.1159/000132726
https://doi.org/10.1159/000132726
Publikováno v:
Europe PubMed Central
We have compared the constitutional and tumor genotypes in two patients with Wilms tumor and adrenocortical carcinoma. The allelic distribution of chromosome 11-specific markers spanning chromosome 11 from pter to qter (HRAS1-HBB-[CALCA/PTH]-FSHB-CAT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f739b02072fd6fe5d5576c03cc1f93d
https://doi.org/10.1159/000132748
https://doi.org/10.1159/000132748
Autor:
M. Bernard, F. Ramirez, Alain Bernheim, I. Henry, Roland Berger, T. Kimura, F. Barichard, Cécile Jeanpierre, M van der Rest, B. R. Olsen, Claudine Junien
Publikováno v:
Genomics. 3(1)
Type XI collagen is a minor and poorly characterized structural component of cartilage. Recently, cDNA and genomic clones coding for the pro alpha 1 chain of human Type XI collagen, formerly 1 alpha collagen, have been isolated and fully characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef76d6f6a59b3e269e19f7f7c3d9d6dc
https://pubmed.ncbi.nlm.nih.gov/3220479
https://pubmed.ncbi.nlm.nih.gov/3220479
Autor:
J. L. Serre, F. Barichard, I. Henry, J de Grouchy, Claudine Junien, H Journel, P. Couillin, A Lamouroux, Marc Jeanpierre, Catherine Turleau
Publikováno v:
Human genetics. 81(3)
To define more precisely, in molecular terms, the region involved in Beckwith-Wiedemann syndrome (BWS), we have studied patients with BWS and a constitutional duplication of 11p15 using eight 11p15 markers. In the first case with a de novo duplicatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80bce7e637fc700eee053778e9a92651
https://pubmed.ncbi.nlm.nih.gov/2921038
https://pubmed.ncbi.nlm.nih.gov/2921038
Autor:
S. Grandjouan, I. Henry, Claudine Junien, Cecile Huerre-Jeanpierre, P. Couillin, Lenoir Gm, T. Philip, Thomas M Glaser, Chaussain Jl, F. Barichard
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 86(9)
We have compared constitutional and tumor genotypes in nine cases of hereditary Wilms tumor (WT) and in three unrelated cases of familial adrenocortical carcinoma (ADCC). Since susceptibility to these tumors can be observed in malformation syndromes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddf256c263f7d5ee92800dd060637d3a
https://pubmed.ncbi.nlm.nih.gov/2566168
https://pubmed.ncbi.nlm.nih.gov/2566168
Autor:
I, Henry, M, Jeanpierre, F, Barichard, J L, Serre, J, Mallet, C, Turleau, J, de Grouchy, C, Junien
Publikováno v:
Annales de genetique. 31(4)
A few cases of Beckwith-Wiedemann syndrome (BWS) have in common a duplication of 11p15. Among the genes located in 11p15, c-Ha-ras 1 (HRAS1), insulin (INS), and insulin-like growth factor II (IGF2) may account for the clinical features and the increa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4b2f48f295abec4ed6832d07dc6c7f9
https://pubmed.ncbi.nlm.nih.gov/2905880
https://pubmed.ncbi.nlm.nih.gov/2905880
Autor:
Virginie Joulin, F. Barichard, Colette Valentin, Raymonde Rosa, Michel Cohen-Solal, I. Henry, M.C. Garel, Claudine Junien
Publikováno v:
Human genetics. 77(3)
A 1.1-kb cDNA clone for human 2,3-bisphosphoglycerate mutase (BPGM) (EC 2.7.5.4) was used to map the structural gene to metaphase chromosomes. In situ hybridization experiments localized the human BPGM gene to chromosome 7 and, more precisely, to reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::262211c5ed45e19d83cd0d9fd9fa8758
https://pubmed.ncbi.nlm.nih.gov/2824335
https://pubmed.ncbi.nlm.nih.gov/2824335
Publikováno v:
La Nouvelle presse medicale. 10(40)
A series of 226 antenatal diagnoses of chromosome structural re-arrangements in 181 couples has shown the usefulness of such diagnosis for couples including a genitor carrying a balanced anomaly. Analysis of the data has elicited major variations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7aa81198d92c8050176c775847255ad9
https://pubmed.ncbi.nlm.nih.gov/6458016
https://pubmed.ncbi.nlm.nih.gov/6458016
Autor:
Stephen E. Humphries, F. Tata, I. Henry, Robert Williamson, Claudine Junien, M. Holm, F. Barichard
Publikováno v:
Human genetics. 71(3)
We have used a cDNA clone for Chinese hamster 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase to isolate a genomic recombinant for human HMG-CoA reductase. The identity of the gene was confirmed by partial sequence analysis. Several unique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5a0b7d1531c21e084399bf646d0a361
https://pubmed.ncbi.nlm.nih.gov/2998972
https://pubmed.ncbi.nlm.nih.gov/2998972