Results 131 to 140 of about 268,628 (304)

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

Disability and Reproduction [PDF]

, 2004
No abstract ...
Church, Sarah, Earle, Sarah
core  

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Metabolic profiling and early prediction models for gestational diabetes mellitus in PCOS and non-PCOS pregnant women

European Journal of Medical Research
Background Gestational diabetes mellitus (GDM) is the most common pregnancy complication, significantly affecting maternal and neonatal health. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic abnormalities ...
Jin Wang, Can Cui, Fei Hou, Zhiyan Wu, Yingying Peng, Hua Jin   +5 more
doaj   +1 more source

Recommendations for structural magnetic resonance imaging in infants with first afebrile seizure or new onset epilepsy: Evidence‐based recommendations from the ILAE Neuroimaging Task Force

Epilepsia, EarlyView.
Abstract Infants aged 1–24 months with new onset epilepsy frequently present with structural brain abnormalities, yet no updated evidence‐based magnetic resonance imaging (MRI) guidelines exist for this population. The International League Against Epilepsy (ILAE) Neuroimaging Task Force developed evidence‐based recommendations for structural brain MRI ...
Gavin P. Winston, Simone Salemme, Gaetano Cantalupo, Fernando Cendes, Felice D′Arco, Paolo Federico, William D. Gaillard, Eliane Kobayashi, Edward J. Novotny, Godwin Ogbole, Abdul Kareem Pullattayil, Domenico Tortora, Matthew T. Whitehead, Taoyun Yi, Francesco Brigo, Anna Elisabetta Vaudano   +15 more
wiley   +1 more source

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Biofluid‐specific variations in circulating 5′ transfer RNA fragments during ictal and interictal states in experimental temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova, Elena Perez Morrissey, Annunziata Guarino, Pietro Marino, Cristiana Pareo, Nicolò Birtolo, Saad Zaheer, Rachel Stewart, Ina Woods, Felix Rosenow, Hajo Hamer, Péter Körtvélyessy, Shona Pfeiffer, David C. Henshall, Jochen H. M. Prehn, Michele Simonato   +15 more
wiley   +1 more source

Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center

International Journal of Women's Health
Qian Zhang,* Yuhong Guo,* Bin Liang, Meihuan Chen, Xiaoqing Wu, Na Lin, Hailong Huang, Liangpu Xu Department of Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity ...
Zhang Q, Guo Y, Liang B, Chen M, Wu X, Lin N, Huang H, Xu L   +7 more
doaj  

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source