Results 191 to 200 of about 181,651 (400)
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome
Clinical Genetics, EarlyView.Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius +16 morewiley +1 more sourceZebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature
Science, 2016 Haiyun Gan, Jeong-Heon Lee, Jing Han, Zhiquan Wang, Scott M Riester, Jianji Chen, Hui Zhou, Jinglong Wang, Honglian Zhang, Na Yang, Elizabeth W. Bradley, Thai H. Ho, Brian P. Rubin, Julia A. Bridge, S. Thibodeau, T. Ordog, Yue Chen, A. J. Wijnen, Andre M. Oliveira, Rui-Ming Xu, J. Westendorf +20 moresemanticscholar +1 more sourceClinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT
GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat +24 morewiley +1 more sourceFunctional outcomes of childhood selective dorsal rhizotomy 20 to 28 years later [PDF]
, 2017 Dobbs, Matthew B, Edwards, Caleb, Liu, Jenny L, Park, T. S, Walter, Deanna M +4 morecore +2 more sourcesClinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort
Clinical Genetics, EarlyView.We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel‐Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Schmitz Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi +23 morewiley +1 more sourceTBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
Genetics in Medicine, 2019 Jiaqi Liu, N. Wu, Nan Yang, K. Takeda, Weisheng Chen, Weiyu Li, Renqian Du, Sen Liu, Yangzhong Zhou, Ling Zhang, Zhenlei Liu, Yuzhi Zuo, Sen Zhao, R. Blank, D. Pehlivan, Shuangshuang Dong, Jianguo Zhang, Jianxiong Shen, Nuo Si, Yi‐peng Wang, Gang Liu, Shugang Li, Yanxue Zhao, Hong Zhao, Yi-Xin Chen, Yu Zhao, Xiaofei Song, Jianhua Hu, Mao Lin, Ye Tian, Bo Yuan, K. Yu, Y. Niu, Bin Yu, Xiaoxin Li, Jia Chen, Zihui Yan, Qian-kun Zhu, Xiaolu Meng, Xiaoli Chen, Jianzhong Su, Xiuli Zhao, Xiaoyue Wang, Y. Ming, Xiao Li, C. Raggio, Baozhong Zhang, X. Weng, Shuyang Zhang, Xue Zhang, Kota Watanabe, M. Matsumoto, Li Jin, Yiping Shen, Nara Sobreira, J. Posey, P. Giampietro, D. Valle, Pengfei Liu, Zhihong Wu, S. Ikegawa, J. Lupski, Feng Zhang, G. Qiu, D. D. D. Study, Japan Early Onset Scoliosis Research Group, Baylor-Hopkins Center for Mendelian Genomics +66 moresemanticscholar +1 more sourceGenetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, EarlyView.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová +26 morewiley +1 more source
