A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Autor: Jill Clayton-Smith, Mariet W. Elting, Rutger A.J. Nievelstein, Linda Goodwin, Andreas Zankl, Paul Coucke, Paulien A. Terhal, Susan Price, Anne Dieux, Valérie Cormier-Daire, Eva J J Verver, Louise C. Wilson, Edward S. Tobias, Sahar Mansour, Niels Thomas Hertel, Maaike Vreeburg, Johanna C. Herkert, Emma Wakeling, Nicolette S. den Hollander, Elizabeth Thompson, Bronwyn Kerr, Marleen Simon, Nine V A M Knoers, Hanne Hove, Mohnish Suri, Tessa Homfray, Frances Elmslie, Raoul C.M. Hennekam, Muriel Holder-Espinasse, Jane A. Hurst, Sarah F. Smithson, André Mégarbané, Yasemin Alanay, Melissa Lees, Vedat Topsakal, Annick Raas-Rothschild, Marianne Rohrbach, Allan M. Lund, Barbara Schroeter, Hermine E. Veenstra-Knol, Regina C. Betz, Johanna M. van Hagen, Annick Toutain, Geert Mortier, Paula van Dommelen, Alison Male, Andrew Green, Kristien Hoornaert, Ernie M.H.F. Bongers, Annemarie H. van der Hout, Albert David, Goeran Anneren, Martine Le Merrer, Jenneke van den Ende, Esther Kinning, Carlo Marcelis

Publikováno v: American Journal of Medical Genetics. Part A, 167A, 461-75
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Megarbane, A, Lees, M M, Wilson, L C, Korteland-van Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype ', American Journal of Medical Genetics Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 3, 167, 1-15
American journal of medical genetics : part A
American Journal of Medical Genetics. Part A, 167A(3), 461. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167A(3), 461-475. Wiley
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Mégarbané, A, Lees, M M, Wilson, L C, Male, A, Hurst, J, Alanay, Y, Annerén, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype ', American Journal of Medical Genetics. Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 167(3), 461-475. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167A, 3, pp. 461-75
American Journal of Medical Genetics Part A, 167(3), 461-475
American journal of medical genetics. Part A, 167(3), 461-475. Wiley-Liss Inc.

Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively inve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0807fefe9f5a3e2eb49b3df360708ca6
https://doi.org/10.1002/ajmg.a.36922

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease

Autor: Marco Benazzo, Paolo Gresele, Henricus P. M. Kunst, Nuria Pujol-Moix, Alessandro Pecci, Tiziana Fierro, Patrick L. M. Huygen, Anna Savoia, Eva J J Verver, Paula G. Heller, Vedat Topsakal, Wilko Grolman

Publikováno v: Ear and Hearing, 37, 1, pp. 112-20
Ear and Hearing, 37, 112-20
Ear and Hearing, 37(1), 112. Lippincott Williams and Wilkins
EAR AND HEARING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Objectives: MYH9-related disease (MYH9-RD) is an autosomal-dominant disorder deriving from mutations in MYH9, the gene for the nonmuscle myosin heavy chain (NMMHC)-IIA. MYH9-RD has a complex phenotype including congenital features, such as thrombocyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd75f4d01e8ead4ece162460cd29c0f
http://journals.lww.com/ear-hearing/pages/articleviewer.aspx?year=2016&issue=01000&article=00012&type=abstract

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Autor: Nadine Maiwald, María Insenser, Jeroen van Reeuwijk, Shalini N. Jhangiani, Liesbeth Spruijt, Alejandro Arias-Vasquez, Margit Schraders, Joop H. Jansen, Matías Morín, Helger G. Yntema, Lies H. Hoefsloot, Hanka Venselaar, M A Moreno-Pelayo, Jaap Oostrik, Ronald J.E. Pennings, Mieke Wesdorp, James R. Lupski, Celia Zazo Seco, Gerwin Huls, Hannie Kremer, Joep de Ligt, Michelle M. van Rossum, Donna M. Muzny, Henricus P. M. Kunst, Ronald J.C. Admiraal, Josephine W. I. van Nierop, Patrick L. M. Huygen, Jeroen Schoots, Stefan H. Lelieveld, Eva J J Verver, Luciana Serrão de Castro

Publikováno v: American Journal of Human Genetics, 97(5), 647-660. Cell Press
American Journal of Human Genetics, 97, 647-60
American Journal of Human Genetics, 97, 5, pp. 647-60

Contains fulltext : 152605.pdf (Publisher’s version ) (Closed access) Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7ba17fdd98f5d5bc6ef8a4fc47be53c
https://pure.eur.nl/en/publications/91acacfc-3e2a-48b1-93b4-d3d3e5790c46

Cochlear implantation is safe and effective in patients with MYH9-related disease

Autor: Andreas Greinacher, Eva J J Verver, Alessandro Pecci, Vedat Topsakal, Nicole Schlegel, Pietro Canzi, Helen Platokouki, Carlos Mario Boccio, Eike Krause, Marco Benazzo

Publikováno v: Orphanet Journal of Rare Diseases

BACKGROUND: MYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant platelets and have a variable

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8220cac227ca9f0c66c1a0f9dccf51
https://doi.org/10.1186/1750-1172-9-100