Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Grazia Maria Simonetta Mancini"'
Autor:
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Publikováno v:
Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inGRIN1orGRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6df8d21797352c70b1f96c5314f0ab4
http://www.scopus.com/inward/record.url?scp=85128529767&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85128529767&partnerID=8YFLogxK
Autor:
Stefanie, Brock, Annie, Laquerriere, Florent, Marguet, Scott J, Myers, Yuan, Hongjie, Diana, Baralle, Tim, Vanderhasselt, Katrien, Stouffs, Kathelijn, Keymolen, Sukhan, Kim, James, Allen, Gil, Shaulsky, Jamel, Chelly, Pascale, Marcorelle, Jacqueline, Aziza, Laurent, Villard, Elise, Sacaze, Marie C Y, de Wit, Martina, Wilke, Grazia Maria Simonetta, Mancini, Ute, Hehr, Derek, Lim, Sahar, Mansour, Stephen F, Traynelis, Claire, Beneteau, Marie, Denis-Musquer, Anna C, Jansen, Andrew E, Fry, Nadia, Bahi-Buisson
Publikováno v:
Journal of medical genetics.
Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inWe report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a868e2440554cec30f3e374efc22731d
https://pubmed.ncbi.nlm.nih.gov/35393335
https://pubmed.ncbi.nlm.nih.gov/35393335
Autor:
Aviel, Ragamin, Carolina C, Gomes, Karen, Bindels-de Heus, Renata, Sandoval, Angelia V, Bassenden, Luciano, Dib, Fernando, Kok, Julieta, Alves, Irene, Mathijssen, Evita, Medici-Van den Herik, Robert, Eveleigh, Tenzin, Gayden, Bas, Pullens, Albert, Berghuis, Marjon, van Slegtenhorst, Martina, Wilke, Nada, Jabado, Grazia Maria Simonetta, Mancini, Ricardo Santiago, Gomez
Publikováno v:
Journal of medical genetics. 59(3)
Pathogenic germline variants inHere we report two unrelated women with a de novo germline p.Leu619ProFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f4a7e4b2e37e4ca07a56394cabdfb4f
https://pubmed.ncbi.nlm.nih.gov/33685999
https://pubmed.ncbi.nlm.nih.gov/33685999
Autor:
Stefanie, Brock, Tim, Vanderhasselt, Sietske, Vermaning, Kathelijn, Keymolen, Luc, Régal, Romina, Romaniello, Dagmar, Wieczorek, Tim Matthias, Storm, Karin, Schaeferhoff, Ute, Hehr, Alma, Kuechler, Ingeborg, Krägeloh-Mann, Tobias B, Haack, Esmee, Kasteleijn, Rachel, Schot, Grazia Maria Simonetta, Mancini, Richard, Webster, Shekeeb, Mohammad, Richard J, Leventer, Ghayda, Mirzaa, William B, Dobyns, Nadia, Bahi-Buisson, Marije, Meuwissen, Anna C, Jansen, Katrien, Stouffs
Publikováno v:
Journal of Medical Genetics
Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::108fdb1509f8ca91756520cc4c17374a
https://pubmed.ncbi.nlm.nih.gov/32571897
https://pubmed.ncbi.nlm.nih.gov/32571897