Results 261 to 270 of about 90,161 (348)
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Nature Genetics, 2017 D. Braun, Jia Rao, G. Mollet, D. Schapiro, M. Daugeron, Weizhen Tan, O. Gribouval, O. Boyer, Patrick Revy, Tilman Jobst-Schwan, J. Schmidt, Jennifer A. Lawson, D. Schanze, S. Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, B. Collinet, Gaëlle Martin, D. Liger, S. Lovric, M. Furlano, I. C. Guerrera, Oraly Sanchez-Ferras, Jennifer F. Hu, Anne-Claire Boschat, S. Sanquer, B. Menten, S. Vergult, N. De Rocker, Merlin Airik, Tobias Hermle, S. Shril, E. Widmeier, H. Y. Gee, Won-Il Choi, C. E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, T. Basta, Verena Matejas, K. Scharmann, Sandra D. Kienast, Babak Behnam, B. Beeson, Amber Begtrup, M. Bruce, G. Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, M. Cho, P. Gaffney, P. Gipson, Chyong-hsin Hsu, J. Kari, Yu-Yuan Ke, C. Kiraly-Borri, W. Lai, E. Lemyre, R.O. Littlejohn, A. Masri, M. Moghtaderi, Kazuyuki Nakamura, F. Ozaltın, M. Praet, C. Prasad, A. Prytuła, Elizabeth R. Roeder, P. Rump, R. Schnur, T. Shiihara, Manish D. Sinha, Neveen A. Soliman, K. Soulami, D. Sweetser, Wen-Hui Tsai, J. Tsai, R. Topaloğlu, U. Vester, David Viskochil, N. Vatanavicharn, Jessica L. Waxler, K. Wierenga, M. T. Wolf, Sik-Nin Wong, S. A. Leidel, Gessica Truglio, Peter C. Dedon, A. Poduri, Shrikant Mane, R. Lifton, M. Bouchard, P. Kannu, D. Chitayat, D. Magen, B. Callewaert, H. van Tilbeurgh, M. Zenker, Corinne Antignac, F. Hildebrandt +101 moresemanticscholar +1 more sourceMissense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies
Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT
Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas +19 morewiley +1 more sourceInflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development [PDF]
, 2019 Diogo Noin de Oliveira, Estela de Oliveira Lima, Carlos Fernando Odir Rodrigues Melo, Jeany Delafiori, Tatiane Melina Guerreiro, Rafael Gustavo Martins Rodrigues, Karen Noda Morishita, Cynthia Silveira, Stéfanie Primon Muraro, Gabriela Fabiano de Souza, Aline Vieira, Antônio Augusto Moura da Sílva, Rosângela Fernandes Lucena Batista, Maria Juliana R. Doriqui, Patrícia S. Sousa, Guilherme Paier Milanez, José Luiz Proença‐Módena, Denise P. Cavalcanti, Rodrigo Ramos Catharino +18 moreopenalex +1 more sourceGenetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT
Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes +8 morewiley +1 more sourceCUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly. [PDF]
HGG AdvXu H, Liu Z, Hamdan FF, Wu S, He M, Wang D, Pan H, Hu J, Chen Y, Michaud JL, Minassian BA, Duan J, Liao J, Su J, Hu S, Peng Y, Ye Q, Chen L. +17 moreeuropepmc +1 more source
