Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Luc Druart"'
Autor:
Azzedine Aboura, Sophie Brisset, Véronique Haddad, Luc Druart, Narjes Guediche, Lucie Tosca, A.E. Mas, Gérard Tachdjian, Olivier Picone, Aurore Coulomb L'Herminé
Publikováno v:
American Journal of Medical Genetics Part A. :894-900
Small supernumerary marker chromosome (sSMC) lacking alpha satellite DNA or endogenous centromere regions are rare and contain fully functional centromeres, called neocentromeres. We report on a woman with a 14-week gestation pregnancy with a cystic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d6032f2cc7a93c0ae15a6157c9dfe6
https://doi.org/10.1002/ajmg.a.35258
https://doi.org/10.1002/ajmg.a.35258
Autor:
Benoît Lautier, Luc Druart, Michel Goossens, Sophie Prevot, Marc Tardieu, Axel Lebas, A.E. Mas, Gérard Tachdjian, Sophie Brisset, Corinne Metay, Stéphanie Latour, Lucie Tosca, Olivier Picone, François Petit
Publikováno v:
European Journal of Medical Genetics. 54:e489-e494
Pure interstitial deletions of the long arm of chromosome 13 are correlated with variable phenotypes according to the size and the location of the deleted region. Deletions involving the 13q13q21 region are rare. In order to establish interstitial 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf61d822734784140234d40c9fed1198
https://doi.org/10.1016/j.ejmg.2011.06.004
https://doi.org/10.1016/j.ejmg.2011.06.004
Autor:
Christian Wentzel, Eva-Lena Stattin, Michelle Steinraths, Irina Giurgea, Marie-France Portnoï, Sarina G. Kant, Corinne Metay, Sandra Chantot-Bastaraud, Claudia A. L. Ruivenkamp, Evica Rajcan-Separovic, Ann-Charlotte Thuresson, Antoinet C.J. Gijsbers, Sandrine Marlin, Göran Annerén, Capucine Hyon, Luc Druart, Joris Andrieux, Catherine Vincent-Delorme
Publikováno v:
European Journal of Human Genetics. 19:959-964
With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3abb4ebac780902494c4c48c4d3b57e5
https://doi.org/10.1038/ejhg.2011.71
https://doi.org/10.1038/ejhg.2011.71
Autor:
Laurence Cuisset, Luc Druart, Géraldine Viot, Jean-Michel Dupont, Fatma Abdelhedi, Vassilis Tsatsaris, Laila El Khattabi, Aziza Lebbar
Publikováno v:
American journal of clinical pathology. 142(2)
Objectives: We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m]. Methods: Low-level trisomy 7 mosaicism was diagnosed pren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0571faeb12c465b2c824c1fe8fb0bc13
https://pubmed.ncbi.nlm.nih.gov/25015868
https://pubmed.ncbi.nlm.nih.gov/25015868
Autor:
Luc Druart, Claire Colmant, M. Laroudie, René Frydman, M. Ftouki, Olivier Picone, Gérard Tachdjian, V. Gautier, Sophie Brisset
Publikováno v:
Prenatal Diagnosis. 29:908-910
C. Colmant1,2,3, S. Brisset2,3,5, G. Tachdjian2,4,5, V. Gautier3,5, M. Ftouki1, M. Laroudie6, L. Druart7, R. Frydman1,2,3 and O. Picone1,2,3* 1AP-HP, Service de Gynecologie Obstetrique et Medecine de la Reproduction, Hopital Antoine Beclere, Clamart,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2f5da0ac3f881a6219bf397a66a750f
https://doi.org/10.1002/pd.2306
https://doi.org/10.1002/pd.2306
Autor:
Kathleen M. Pfleghaar, Gonzalo Moscoso, Shoji Satoh, Philippe Metezeau, Jean-Denis Bignon, Philippe Blot, Hélène Kiefer, Valère Cacheux, William Polzin, Luc Druart, J. Muller, Ronald J. Wapner, Zoltán Papp, Ákos Münnich, Sachiyo Suita, NJ Sebire, F. Patel, Jean-Michel Lapierre, P. Sagot, K. Nicolaides, Kypros H. Nicolaides, Alan R. Spitzer, Gérard Tachdjian, Miki Nagano, Steven J. Feinstein, Jean-François Oury, Veress L, Hitoo Nakano, Tomoaki Taguchi, R.J.M. Snijders, Albert P. Sarno, K. H. Nicolaides, M. Faria, Kathleen Kuhlman, Takashi Koyanagi, Neil J. Sebire, G. Boog, Mária Szabó, A. Cesbron, Takeshi Yamanouchi, F. Bonneville, Arthur Maslow, Jon Hyett
Publikováno v:
Fetal Diagnosis and Therapy. 10:I-VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d90ed2eb51965e35d33a119644c73bf3
https://doi.org/10.1159/000264257
https://doi.org/10.1159/000264257
Autor:
Philippe Metezeau, Luc Druart, Jean-François Oury, Valère Cacheux, Gérard Tachdjian, Philippe Blot, Hélène Kiefer, Jean-Michel Lapierre
Publikováno v:
Fetal Diagnosis and Therapy. 10:387-392
A de novo structural abnormality of one X chromosome was prenatally detected in a female fetus. This chromosomal abnormality has been analyzed by conventional cytogenetic methods, fluorescence in situ hybridization, and laser scanning image cytometry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd7aa0ffddd27c734116cf26fbba86e5
https://doi.org/10.1159/000264263
https://doi.org/10.1159/000264263
Autor:
Takeshi Takashima, Gérard Tachdjian, Luc Druart, B. Arabin, Hitoo Nakano, Ross Welch, Bernard J. Weill, Hans K. Weitzel, Takashi Koyanagi, Sylvie Laumond-Barny, Michèle Uzan, C. Nessmann, Yvette Sultan, Valère Cacheux, Catherine Tchobroutsky, E. Jimenez, Jean-Louis Benifla, B. L. Hsi, Nicholas M. Fisk, Michael Vogel, Charles H. Rodeck, Junji Nishimura, J. F. Bruch, C. Milesi-Fluet, Daniel Ronderos-Dumit, Umberto Nicolini, Serge Uzan, Janet I. Vaughan, Emile Papiernik, Hirotaka Maeda
Publikováno v:
Fetal Diagnosis and Therapy. 7:203-243
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dcbd39cc332940412214ca6025c4922
https://doi.org/10.1159/000263701
https://doi.org/10.1159/000263701
Autor:
Françoise Fougerousse, Luc Druart, Gérard Tachdjian, Bernard Grandchamp, Pavel Martásek, Valère Cacheux, Marie Hélène Delfau
Publikováno v:
Human genetics. 94(5)
The human gene encoding coproporphyrinogen oxidase is the defective gene in hereditary coproporphyria. This gene was mapped to chromosome band 3q12 using fluorescent in situ hybridization. The chromosomal localization was confirmed by cosegregation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80710348b6fceb336f6dbe2254be3cd4
https://pubmed.ncbi.nlm.nih.gov/7959694
https://pubmed.ncbi.nlm.nih.gov/7959694
Autor:
Valère Cacheux, Jean-François Oury, S. Sérero, C. Nessmann, Gérard Tachdjian, P. Blot, Luc Druart
Publikováno v:
Prenatal diagnosis. 14(2)
The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2618b60196d2814430454dbc7a7395db
https://pubmed.ncbi.nlm.nih.gov/8183853
https://pubmed.ncbi.nlm.nih.gov/8183853