Results 81 to 90 of about 54,392 (259)

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

Developmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng, Santiago Lima, Larisa Litovchick, Amanda J. G. Dickinson   +3 more
wiley   +1 more source

Clinical Effect Analysis of Spinal Cord Electrical Stimulator Implantation for Diabetic Foot

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objective To investigate the clinical effect of spinal cord electrical stimulator implantation in the treatment of diabetic foot (DF). Materials and Methods We recruited 19 patients with DF who were admitted to Shengjing Hospital of China Medical University between January 2018 and May 2020.
Peng‐Bo Zhou, Min Bao
wiley   +1 more source

Microcephaly [PDF]

Current Biology, 2014
Woods, C.G., Basto, R.
openaire   +3 more sources

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

Genome Medicine
Background Microcephaly, characterized by an abnormally small head size, frequently co-occurs with neurodevelopmental disorders (NDDs). While the genetic basis of NDDs has been widely investigated, the contribution of rare coding variants to microcephaly
Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho, Minji Kim, Jiye Han, Hyounji Yun, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Anna Cho, Jin Sook Lee, Murim Choi, Alberto Fernandez-Jaen, Sebastian Silva, Reinaldo Uribe-San-Martín, Christian Cantillano, Noriko Miyake, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae   +24 more
doaj   +1 more source

Zika virus infection during pregnancy and microcephaly occurrence: a review of literature and Brazilian data

Brazilian Journal of Infectious Diseases, 2016
In November of 2015, the Ministry of Health of Brazil published an announcement confirming the relationship between Zika virus and the microcephaly outbreak in the Northeast, suggesting that infected pregnant women might have transmitted the virus to ...
Newton Sérgio De Carvalho, Beatriz Freitas De Carvalho, Cyllian Arias Fugaça, Bruna Dóris, Evellyn Silverio Biscaia   +4 more
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. [PDF]

, 2017
Microcephaly is an important sign of neurological malformation and a predictor of future disability. The 2015-16 outbreak of Zika virus and congenital Zika infection brought the world's attention to links between Zika infection and microcephaly. However,
Abubakar, Ibrahim, Breuer, J, Richard E Rosch, Copp, A, Rodrigues, LC, Abubakar, I, Breuer, Judith, Bamford, A, Jonathan Broad, Andrew J Copp, Judith Breuer, Nora Groce, Groce, Nora, Bamford, Alasdair, Alexandre, Paula, Rosch, Richard E, Broad, Jonathan, Alexandre, P, Paula Alexandre, Groce, N, Ibrahim Abubakar, Copp, Andrew J, Laura C Rodrigues, Devakumar, Delan, Broad, J, Delan Devakumar, Alasdair Bamford, Cardoso, Marly A, Ferreira, MU, Rosch, RE, Marly A Cardoso, Rodrigues, Laura C, Cardoso, MA, Devakumar, D, Marcelo U Ferreira, Ferreira, Marcelo U   +35 more
core   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

BMC Neurology, 2011
Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date.
Mir Asif, Mahmood Saqib, Basit Sulman, Khan Bushra, Hassan Muhammad, Kousar Rizwana, Ahmad Wasim, Ansar Muhammad   +7 more
doaj   +1 more source

Diagnostic Algorithm for Microcephaly

, 2013
Investigators from Addenbrooke’s Hospital, Cambridge, UK, provide a diagnostic structure to follow when presented with a child with ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source