Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Bernard Grisart"'
Autor:
Leonor Palmeira, Lore Lannoo, Anne De Leener, Eva Sammels, Julie Désir, Nathalie Brison, Guillaume Smits, Vincent Bours, Annelies Dheedene, Annelies Fieuw, Kris Van Den Bogaert, Marjan De Rademaeker, Elise Vantroys, Jean-Stéphane Gatot, Laura Bourlard, Vincent Gatinois, Colombine Meunier, Koenraad Devriendt, Armelle Duquenne, François Boemer, Bettina Blaumeiser, Axel Marichal, Katrien Janssens, Joris Vermeesch, Nathalie Fieremans, Bruno Pichon, Yves Sznajer, Björn Menten, Sandra Janssens, Bernard Grisart, Machteld Baetens, Damien Lederer
Publikováno v:
Genetics in medicine
Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021)
Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021)
Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting
Autor:
Colombine Meunier, Julie Désir, Sonia Rombout, Bernard Grisart, Axel Marichal, Jean-Martin Billard
Publikováno v:
Périnatalité. 12:63-69
Les nouvelles techniques génomiques révolutionnent le dépistage et le diagnostic anténatals, en permettant l’accès à des diagnostics d’affections foetales et/ou parentales dont la pénétrance n’est pas toujours complète. Ces techniques
Autor:
Bernard Grisart, Armelle Duquenne, Naïri Khudashvili, Margot van Riel, Eva Sammels, Leonor Palmeira, Elise Vantroys, Leen Vancoillie, Bruno Pichon, Nathalie Brison, Annelies Dheedene, Bettina Blaumeiser, Kris Van Den Bogaert, Katrien Janssens, Sandra Janssens, Axel Marichal, François Boemer, Machteld Baetens, Joris Vermeesch, Ilse Parijs, Yves Sznajer, Jean-Stéphane Gatot, Koenraad Devriendt, Annelies Fieuw, Laura Bourlard, Nathalie Fieremans, Julie Désir, Guillaume Smits, Saskia Bulk, Ellen Roets, Colombine Meunier, Marion Suenaert, Lore Lannoo, Anne De Leener, Lotte Vandeputte
Publikováno v:
Obstetrics and gynecology
Obstetrics and gynecology, Vol. 137, no. 6, p. 1102-1108 (2021)
Obstetrics and gynecology, Vol. 137, no. 6, p. 1102-1108 (2021)
OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. METHODS: We performed
Autor:
Miikka Vikkula, Bernard Grisart, Nathalie Lannoy, Mathilde Fretigny, Marie Ravoet, Cedric Hermans
Publikováno v:
Thrombosis Research. 137:224-227
Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.
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
Autor:
D. Beysen, Deborah J. Shears, Siddharth Banka, Bernard Grisart, Grazia M.S. Mancini, Damien Lederer, S. Bunstone, Ravi Savarirayan, Dian Donnai, Valérie Benoit, Shane McKee, E. Jenkins, Bronwyn Kerr, Isabelle Maystadt, E. Howard, Susan M. White, Ronald D. Cohn, H. Stewart, I C Lloyd
Publikováno v:
Clinical Genetics. 87:252-258
We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX) mutations, a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the first time, germ-line missense and splice-site mutations in the gene. We demonstrate that less
Autor:
Nathalie Lannoy, Christine Verellen-Dumoulin, Cédric Hermans, Catherine Lambert, Miikka Vikkula, Stéphane Eeckhoudt, Bernard Grisart
Publikováno v:
European Journal of Human Genetics. 21:970-976
The intron 22 inversion found in up to 50% of severe hemophilia A patients results from a recombination between three intron 22 homologous copies (int22h). This study evaluated the implication of these copies in the formation of extended duplications
Autor:
Michel Georges, Frédéric Farnir, Margaret J. Mackinnon, Wouter Coppieters, Alexandre Kvasz, Bernard Grisart, Juan José Arranz
Publikováno v:
Scopus-Elsevier
We describe the development of a multipoint nonparametric quantitative trait loci mapping method based on the Wilcoxon rank-sum test applicable to outbred half-sib pedigrees. The method has been evaluated on a simulated dataset and its efficiency com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1886a773f8ed2825e51fe58b0ad316
https://ora.ox.ac.uk/objects/uuid:27f411c5-e787-437a-a1c1-a4455740e402
https://ora.ox.ac.uk/objects/uuid:27f411c5-e787-437a-a1c1-a4455740e402
Autor:
Bernard Grisart, Sarah Vergult, Sandra Janssens, Matthias De Smet, Annelies Dheedene, Björn Menten, Jean-François Vanbellinghen, Tom Sante
Publikováno v:
PRENATAL DIAGNOSIS
Prenatal Diagnosis
Prenatal Diagnosis, Vol. 36, no.8, p. 699-707 (2016)
Prenatal Diagnosis
Prenatal Diagnosis, Vol. 36, no.8, p. 699-707 (2016)
Objectives To implement non‐invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15‐month experience on clinical samples. Methods We validated a NIPT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ccee14cddda48baaebca6adae2d0c43
https://biblio.ugent.be/publication/8515850
https://biblio.ugent.be/publication/8515850
Autor:
Samuel Balbeur, Placide Ngendahayo, Urielle Ullmann, Daniel Sartenaer, Pierre‐Emmanuel Leonard, Constantin Lungu‐Silviu, Bernard Grisart, Benoit Parmentier, Sébastien Boulanger, Philippe A. Lysy, Luc Leroy, Isabelle Maystadt
Publikováno v:
Clinical case reports, Vol. 4, no.3, p. 265-271 (2016)
Clinical Case Reports
Clinical Case Reports
Maternal uniparental disomy of chromosome 14 (upd(14)mat) is a rare chromosomal disease in which both chromosomes 14 are inherited from the mother, instead of one copy from each parent. The main clinical features of upd(14)mat, overlapping with those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5269ddb9ed04e90821173a8ec6ad4c4
https://hdl.handle.net/2078.1/182916
https://hdl.handle.net/2078.1/182916