Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nathalie Fieremans"'
Autor:
Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens, Bettina Blaumeiser, Sébastien Boulanger, Julie Désir, Boyan Dimitrov, Nathalie Fieremans, Katrien Janssens, Sandra Janssens, Axel Marichal, Björn Menten, Colombine Meunier, Kim Van Berkel, Ann Van Den Bogaert, Koenraad Devriendt, Kris Van Den Bogaert, Joris Robert Vermeesch
Publikováno v:
European journal of human genetics
Maternally inherited 15q11-q13 duplications are generally found to cause more severe neurodevelopmental anomalies compared to paternally inherited duplications. However, this assessment is mainly inferred from the study of patient populations, causin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503b76727ac64315911f73dbc0856eb4
https://hdl.handle.net/10067/1960390151162165141
https://hdl.handle.net/10067/1960390151162165141
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4160c358ba3304c89c54ddec000e7f8
https://doi.org/10.1038/s41436-021-01101-4
https://doi.org/10.1038/s41436-021-01101-4
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b528dfdf7f380424bf87e194c5212cb
https://hdl.handle.net/10067/1841600151162165141
https://hdl.handle.net/10067/1841600151162165141
Autor:
Jozef Van Driessche, Guy Froyen, Stefanie Belet, Nathalie Fieremans, Hilde Van Esch, Marijke Bauters, Thomy de Ravel
Publikováno v:
European Journal of Medical Genetics. 58:324-327
Intellectual disability (ID) is a very heterogeneous disorder with over 100 ID genes located on the X chromosome alone. Of these, KDM5C and IQSEC2 are located adjacent to each other at the Xp11.22 locus. While mutations in either of these genes are a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d6f04e741ce610271a99620168fdc2
https://doi.org/10.1016/j.ejmg.2015.03.003
https://doi.org/10.1016/j.ejmg.2015.03.003
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
Autor:
Mala Isrie, Vera M. Kalscheuer, Maureen Holvoet, Nathalie Fieremans, Koenraad Devriendt, Hilde Van Esch
Publikováno v:
European Journal of Medical Genetics
Europe PubMed Central
Europe PubMed Central
The advent of next-generation sequencing has proven to be a key force in the identification of new genes associated with intellectual disability. In this study, high-throughput sequencing of the coding regions of the X-chromosome led to the identific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::522e4ce23d16112ac5a3836f6d101fab
https://doi.org/10.1016/j.ejmg.2013.05.005
https://doi.org/10.1016/j.ejmg.2013.05.005
Autor:
Fernando Neves, Guy Froyen, S. Alves, Umbelina Ramos, Maria João Nabais Sá, Márcia Rodrigues, Fernando Teixeira e Costa, Nathalie Fieremans, Adelino Carvalho, Arjan P.M. de Brouwer, Maria José Brito, Joana Felgueiras, Fernanda Carvalho, Rita de Sousa, Francisco Sousa, José Ramón Vizcaíno, Filipa Carvalho, João Paulo Oliveira
Publikováno v:
Journal of Medical Genetics, 50, 11, pp. 745-53
Journal of Medical Genetics, 50, 745-53
Journal of Medical Genetics, 50, 745-53
Background Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal disease in young people. About 85% of the cases are X-linked (ATS), due to mutations in the COL4A5 gene. Rarely, families have a contiguou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6787d3c1f1221c4401d067104f30a7f2
https://doi.org/10.1136/jmedgenet-2013-101670
https://doi.org/10.1136/jmedgenet-2013-101670
Autor:
Nathalie, Fieremans, Hilde, Van Esch, Maureen, Holvoet, Gert, Van Goethem, Koenraad, Devriendt, Monica, Rosello, Sonia, Mayo, Francisco, Martinez, Shalini, Jhangiani, Donna M, Muzny, Richard A, Gibbs, James R, Lupski, Joris R, Vermeesch, Peter, Marynen, Guy, Froyen
Publikováno v:
Human mutation. 37(8)
Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in many cases. Previously, X-linked ID (XLID) studies focused on males because of the hemizygous state of their X chromosome. Carrier females are generally un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a34eee9b6ba4b3007863d569e6129a87
https://pubmed.ncbi.nlm.nih.gov/27396954
https://pubmed.ncbi.nlm.nih.gov/27396954
Autor:
Guy Froyen, Anne Slavotinek, Hilde Van Esch, Nathalie Fieremans, Jan Deprest, Paul Brady, Koenraad Devriendt, Joris Vermeesch
Publikováno v:
European journal of human genetics : EJHG. 23(4)
Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4933f1cf8406ddcb9a67bc2da459a36
https://pubmed.ncbi.nlm.nih.gov/25026905
https://pubmed.ncbi.nlm.nih.gov/25026905
Autor:
Katrin Õunap, Maila Giannandrea, Vigneron Jacqueline, Martine Raynaud, Nathalie Fieremans, Patrizia D'Adamo, Jelle Verbeeck, Hilde Van Esch, Guy Froyen, Lieselot Vanmarsenille, Annick Vogels, Stefanie Belet, Katrin Männik, Sylvain Briault
Copy number gains at Xq28 are a frequent cause of X-linked intellectual disability (XLID). Here, we report on a recurrent 0.5 Mb tandem copy number gain at distal Xq28 not including MECP2, in four male patients with nonsyndromic mild ID and behaviora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa059b887cdab8a6d9fd0b19139871ca
https://biblio.vub.ac.be/vubir/increased-dosage-of-rab39b-affects-neuronal-development-and-could-explain-the-cognitive-impairment-in-male-patients-with-distal-xq28-copy-number-gains(e47348c1-0422-46b3-9599-e9a03ba20f80).html
https://biblio.vub.ac.be/vubir/increased-dosage-of-rab39b-affects-neuronal-development-and-could-explain-the-cognitive-impairment-in-male-patients-with-distal-xq28-copy-number-gains(e47348c1-0422-46b3-9599-e9a03ba20f80).html
Autor:
Guy Froyen, Anna Jansen, Filip Roelens, Jelle Verbeeck, Marijke Bauters, Peter Marynen, Sara Seneca, Stefanie Belet, Elfride De Baere, Nathalie Fieremans
Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af21427b48a3e2fed7f48a461b58bca
https://hdl.handle.net/20.500.14017/2ed4439e-f3bf-46f6-bc95-e180eae5ed67
https://hdl.handle.net/20.500.14017/2ed4439e-f3bf-46f6-bc95-e180eae5ed67