Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14)

Autor: Kosuke Mochida, Anne Slavotinek, Roberto Mendoza-Londono, Parul Jayakar, Kiyoshi Kikkawa, Luis E. Figuera, Andreas R. Janecke, Hiroko Morisaki, Takaya Nakane, Nicol C. Voermans, Delfien Syx, Tetsuyuki Kobayashi, Tomoko Kobayashi, Toshihiro Ohura, Klaas J. Wierenga, Tomomi Yamaguchi, Takayuki Morisaki, Mari Minatogawa, Michihiro Kono, William A. Gahl, Judith D. Ranells, Ai Unzaki, Tomoki Kosho, Cynthia J. Tifft, Yoko Aoki, Masumi Ishikawa, Ohsuke Migita, Akiharu Kubo, Naomichi Matsumoto, Fransiska Malfait, Chiho Tokorodani, Yves Lacassie, Tohru Sonoda, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Glenda Sobey, Noriko Miyake, Ken Ishikawa, Anupriya Kaur, Hiroshi Kawame

Publikováno v: Journal of Medical Genetics, 59, 9, pp. 865-877
Journal of Medical Genetics, 59, 865-877
Journal of Medical Genetics, 59(9), 865-877. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K J, Jayakar, P, Gahl, W A, Tifft, C J, Figuera, L E, Hilhorst-Hofstee, Y, Maugeri, A, Ishikawa, K, Kobayashi, T, Aoki, Y, Ohura, T, Kawame, H, Kono, M, Mochida, K, Tokorodani, C, Kikkawa, K, Morisaki, T, Kobayashi, T, Nakane, T, Kubo, A, Ranells, J D, Migita, O, Sobey, G, Kaur, A, Ishikawa, M, Yamaguchi, T, Matsumoto, N, Malfait, F, Miyake, N & Kosho, T 2022, ' Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) ', Journal of Medical Genetics, vol. 59, no. 9, pp. 865-877 . https://doi.org/10.1136/jmedgenet-2020-107623

BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d298fb5f42a456694aa45a947844ec
https://hdl.handle.net/2066/287515

Evaluación diagnóstica del paciente dismórfico

Autor: Yves Lacassie, Dr.

Publikováno v: Revista Médica Clínica Las Condes, Vol 26, Iss 4, Pp 452-457 (2015)

Dismorfología se refiere al estudio de los pacientes con malformaciones congénitas. En este concepto se incluyen también pacientes con otras alteraciones morfológicas que lo hacen aparecer diferente. En este artículo revisamos los diferentes tip

Externí odkaz: https://doaj.org/article/0b55a86d41d848638bad325a3bce3948

Front Cover, Volume 43, Issue 10

Autor: Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill A. Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba A. Ali, Nazif Muhammad, Sher A. Khan, Noor Muhammad, Pengfei Liu, Marie‐Louise Haymon, Franz Rüschendorf, Il‐Keun Kong, Linda Schnapp, Natasha Shur, Lynn Chorich, Lawrence Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung‐Goo Kim, Gaurav K. Varshney

Publikováno v: Human Mutation. 43

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::24707839f91a2b650d3fc4097b91ca3f
https://doi.org/10.1002/humu.24464

Vertical transmission of a large calvarial ossification defect due to heterozygous variants ofALX4andTWIST1

Autor: Pengfei Liu, Ian M. Campbell, Gladys Zapata, Rachel Franciskovich, Michelle E Walters, Bret L. Bostwick, Patricia P. Hernandez, Mahshid S. Azamian, Yves Lacassie, Seema R. Lalani

Publikováno v: American Journal of Medical Genetics Part A. 185:916-922

ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bone

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6aa372df56ec34f35747a5b0f30f2ad7
https://doi.org/10.1002/ajmg.a.62036

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

Autor: Sylvia Guardia, Rita Quintana, Yves Lacassie, Cecilia Alvarez, Alejandra King, Ricardo Gomez, Alfonso Vargas, Swaroop Aradhya, Fanny Cortés, Britt Johnson, Stuart A. Chalew, Andrew King, Ricardo U. Sorensen, Guillermo Lay-Son

Publikováno v: American Journal of Medical Genetics Part A. 182:1767-1775

Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile faci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f820a2aae3b08316ec1db2ee931ccf14
https://doi.org/10.1002/ajmg.a.61597