Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Claude Bandelier"'
Autor:
Joris Vermeesch, Benoit Parmentier, Julie Désir, Mauricette Jamar, Damien Lederer, Winnie Courtens, Anne De Leener, Sandra Janssens, Philip Holmgren, Nathalie Brison, Kathelijn Keymolen, Claude Bandelier, Annelies Dheedene, Yves Jacquemyn, Koenraad Devriendt, Marjan De Rademaeker, Bruno Pichon, Erik Fransen, Jean-Stéphane Gatot, Marije Meuwissen, Sonia Rombout, Anne Destree, Olivier Vanakker, J. Muys, Bettina Blaumeiser, Katrien Janssens, Patrizia Chiarappa, Björn Menten, Annelies Fieuw, Kris Van Den Bogaert, Yves Sznajer, Saskia Bulk, Ann Van Den Bogaert
Publikováno v:
Prenatal Diagnosis. 38:1120-1128
OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81b769ff9dc6575ea7f660ac7246c53
https://doi.org/10.1002/pd.5373
https://doi.org/10.1002/pd.5373
Autor:
Bernard Grisart, Michel Reginster, Cédric Hermans, Claude Bandelier, Elisabeth Ronge-Collard, Nathalie Lannoy, Miikka Vikkula
Publikováno v:
Haemophilia. 21:516-522
In approximately 90% of mild haemophilia A (HA) patients, a missense mutation can be identified using complete gene sequencing. In this study, multiplex ligation-dependent probe amplification analysis was performed as a second step in 10 French-speak
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107f7605a899fc23ec6a977aa6b07957
https://doi.org/10.1111/hae.12675
https://doi.org/10.1111/hae.12675
Implementation of genomic arrays in prenatal diagnosis : the Belgian approach to meet the challenges
Autor:
Bernard Grisart, Ann Van Den Bogaert, Sonia Rombout, Julie Désir, Guillaume Smits, Björn Menten, Marie Ravoet, Kris Van Den Bogaert, Olivier Vanakker, Joris Vermeesch, Sandra Janssens, Stéphane Gaillez, Bruno Pichon, Nathalie Van der Aa, Nicole Revencu, Thomy de Ravel, Claude Bandelier, Yves Sznajer, Ann-Cécile Hellin, Anne De Leener, Catherine Staessens, Saskia Bulk, Marjan De Rademaeker, Koen Devriendt, Anne Destree, Bettina Blaumeiser, Katrien Janssens, Annelies Dheedene, F Kooy, Kathelijn Keymolen, Catheline Vilain, Jean-Hubert Caberg
Publikováno v:
European journal of medical genetics
After their successful introduction in postnatal testing, genome-wide arrays are now rapidly replacing conventional karyotyping in prenatal diagnostics. While previous studies have demonstrated the advantages of this method, we are confronted with di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c360c5a146bf89e41a9b73ed8d5aca
https://hdl.handle.net/10067/1172280151162165141
https://hdl.handle.net/10067/1172280151162165141
Autor:
Anya Blassnig-Ezeh, Birgit Krabichler, Marie Ravoet, Dieter Kotzot, Véronique Beauloye, Claude Bandelier, Burkhard Simma, Christine Fauth, Johannes Zschocke, Anne Frühmesser, Nicole Revencu
Publikováno v:
American journal of medical genetics. Part A, Vol. 161A, no. 12, p. 3176-3181 (2013)
Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16 → p22 de novo microduplications found by SNP-array analysis. The affected individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aaaf52c69a432b3ea1466ff6798b66e
https://hdl.handle.net/2078.1/143245
https://hdl.handle.net/2078.1/143245
