Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Isabelle Maystadt"'
Autor:
Claudine Heinrichs, Isabelle Maystadt, Dominique Beckers, Willem Staels, Nuriya Alev, Jean De Schepper, Olimpia Chivu
Publikováno v:
European journal of endocrinology, Vol. 185, no. 2, p. 323-332 (2021)
Context: Short stature in children is a common reason for referral to pediatric endocrinologists. The underlying cause of short stature remains unclear in many cases and patients often receive unsatisfactory, descriptive diagnoses. While textbooks un
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
Marie-Cécile Nassogne, Julie Désir, Isabelle Maystadt, Benoit, Sébastien Boulanger, Stéphanie Moortgat, Damien Lederer, Hélène Pendeville
Publikováno v:
American Journal of Medical Genetics Part A. 170:2927-2933
X-chromosome exome sequencing was performed to identify the genetic cause of syndromic intellectual disability in two unrelated families with suspected X-linked inheritance. In both families, affected males presented with severe intellectual disabili
Autor:
Sébastien Boulanger, Marga Buzatu, Sandrine Mary, Isabelle Maystadt, Alban Ziegler, Damien Lederer, Marie Deprez, Agnès Guichet, Philippe Clapuyt, Valérie Benoit, Stéphanie Moortgat, Estelle Colin, Dominique Bonneau
Publikováno v:
Eur J Med Genet
Eur J Med Genet, 2018, 61 (8), pp.442-450. ⟨10.1016/j.ejmg.2018.03.002⟩
European Journal of Medical Genetics, Vol. 61, no. 8, p. 442-450 (2018)
Eur J Med Genet, 2018, 61 (8), pp.442-450. ⟨10.1016/j.ejmg.2018.03.002⟩
European Journal of Medical Genetics, Vol. 61, no. 8, p. 442-450 (2018)
International audience; Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9182fd559b257cbb403b5ca906da8dbf
https://hal.archives-ouvertes.fr/hal-02082991
https://hal.archives-ouvertes.fr/hal-02082991
Autor:
Rolph Pfundt, Sarju G. Mehta, Amy Lawson Yuen, Gunnar Houge, Marie-Cécile Nassogne, Nicola S. Cooper, Bjørn Ivar Haukanes, Ingvild Aukrust, Siren Berland, Pradeep Vasudevan, Mónica Roselló, Stéphanie Moortgat, Nina Powell-Hamilton, Charlotte von der Lippe, Barbara van Loon, Ruth Newbury-Ecob, Alain Verloes, Laura A. Baker, Trine Prescott, Andrew O.M. Wilkie, Emma Wakeling, Ddd Study, Isabelle Maystadt, Francisco Martínez, Laurence Faivre, Alfonso Caro-Llopis, Karen J. Low, Emma Kivuva, François-Guillaume Debray, Thatjana Gardeitchik, Louise C. Wilson, Christine Verellen-Dumoulin, Valérie Benoit
Publikováno v:
European Journal of Human Genetics, 26, 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c6a61c0cf0087763ade5cff5db7c09
http://hdl.handle.net/2066/183870
http://hdl.handle.net/2066/183870
Autor:
Shehla Mohammed, Soo-Mi Park, David R. FitzPatrick, Alex Magee, Damien Lederer, Michael Parker, Alan Fryer, Katherine Lachlan, Deborah J. Shears, Deciphering Developmental Disorders Study, Valérie Benoit, Shane McKee, Isabelle Maystadt, Pradeep C. Vasudevan
Publikováno v:
American Journal of Medical Genetics Part A. 167:2231-2237
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via th
Autor:
Sandhya Parkash, Julie Désir, Gretchen MacCarrick, Birgitte Rode Diness, Jennifer Hague, Paul Coucke, George McGillivray, Marja W. Wessels, Giada Tortora, Takayuki Morisaki, Mieke M. van Haelst, Christopher P. Bennett, David Liang, Lut Van Laer, Ingrid M.B.H. van de Laar, Marlies Kempers, Y. Detisch, Geert Vandeweyer, Jolien W. Roos-Hesselink, Andrea L. Rideout, Isabelle Maystadt, Josephina A.N. Meester, Elisa Rahikkala, Denise van der Linde, Lotte Risom, Dorien Schepers, Bart Loeys, Elie El-Khoury, Judith M.A. Verhagen, Ingrid Scurr, Kees P.J. Braun, Hiroko Morisaki, Klaske D. Lichtenbelt, Sarju G. Mehta, Julie Richer, Gabrielle Horne, Yvonne Hilhorst-Hofstee, Mark E. Lindsay, Maaike Alaerts, Hal Dietz, Aline Verstraeten, Annette F. Baas
Publikováno v:
Human Mutation
Human mutation, 39 (5
Human Mutation, 39, 621-634
Human Mutation, 39(5), 621-634
Human Mutation, 39, 5, pp. 621-634
Human mutation, 39(5), 621-634. Wiley-Liss Inc.
Human Mutation, 39(5), 621-634. Wiley-Liss Inc.
Schepers, D, Tortora, G, Morisaki, H, MacCarrick, G, Lindsay, M, Liang, D, Mehta, S G, Hague, J, Verhagen, J, van de Laar, I, Wessels, M, Detisch, Y, van Haelst, M, Baas, A, Lichtenbelt, K, Braun, K, van der Linde, D, Roos-Hesselink, J, McGillivray, G, Meester, J, Maystadt, I, Coucke, P, El-Khoury, E, Parkash, S, Diness, B, Risom, L, Scurr, I, Hilhorst-Hofstee, Y, Morisaki, T, Richer, J, Désir, J, Kempers, M, Rideout, A L, Horne, G, Bennett, C, Rahikkala, E, Vandeweyer, G, Alaerts, M, Verstraeten, A, Dietz, H, Van Laer, L & Loeys, B 2018, ' A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 ', Human Mutation, vol. 39, no. 5, pp. 621-634 . https://doi.org/10.1002/humu.23407
Human mutation
Human mutation, 39 (5
Human Mutation, 39, 621-634
Human Mutation, 39(5), 621-634
Human Mutation, 39, 5, pp. 621-634
Human mutation, 39(5), 621-634. Wiley-Liss Inc.
Human Mutation, 39(5), 621-634. Wiley-Liss Inc.
Schepers, D, Tortora, G, Morisaki, H, MacCarrick, G, Lindsay, M, Liang, D, Mehta, S G, Hague, J, Verhagen, J, van de Laar, I, Wessels, M, Detisch, Y, van Haelst, M, Baas, A, Lichtenbelt, K, Braun, K, van der Linde, D, Roos-Hesselink, J, McGillivray, G, Meester, J, Maystadt, I, Coucke, P, El-Khoury, E, Parkash, S, Diness, B, Risom, L, Scurr, I, Hilhorst-Hofstee, Y, Morisaki, T, Richer, J, Désir, J, Kempers, M, Rideout, A L, Horne, G, Bennett, C, Rahikkala, E, Vandeweyer, G, Alaerts, M, Verstraeten, A, Dietz, H, Van Laer, L & Loeys, B 2018, ' A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 ', Human Mutation, vol. 39, no. 5, pp. 621-634 . https://doi.org/10.1002/humu.23407
Human mutation
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cl
Publikováno v:
European Journal of Medical Genetics. 57:212-215
Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, facial dysmorphism and skeletal features. The infantile presentation of CISS, referred to as Crisponi s
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:
Luc Régal, Erik-Jan Kamsteeg, Damien Lederer, Nicol C. Voermans, Alberto Burlina, John W.M. Creemers, David Gil Ortega, Sandra Meulemans, Tord Jonson, Mia Olsson Engman, A. Jeannette M. Hoogeboom, Meyke Schouten, Emma Mårtensson, María Jesús Juan Fita, Tess Hollemans, Isabelle Maystadt, Inge Francois
Publikováno v:
Genetics in Medicine, 20, 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination