Results 171 to 180 of about 67,545 (327)

Early detection of infants with neurodevelopmental concerns indicative of cerebral palsy in a lower middle‐income country (India)

Developmental Medicine &Child Neurology, EarlyView.
In this prospective sub‐study testing the predictive validity of General Movements Assessment (GMA) and/or Hammersmith Infant Neurological Examination (HINE), 785 infants with birth/infant‐detectable risk factors, aged 12 to 40 weeks corrected age were recruited. GMA and HINE were reliable and accurate tools for screening high‐risk populations in India,
Katherine A. Benfer, Asis K. Ghosh, Sayak Chowdhury, Golam Moula, Sandip Samanta, Pradip Maiti, Anjan Bhattacharya, Naila Zaman Khan, Koa Whittingham, Robert S. Ware, Cathy Morgan, Sasaka Bandaranayake, Iona Novak, Roslyn N. Boyd   +13 more
wiley   +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  

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder [PDF]

, 2002
Esther Leshinsky‐Silver, Ami Zinger, Chaim N Bibi, V. Barash, Menachem Sadeh, Dorit Lev, T. Sagie   +6 more
openalex   +1 more source

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study

Epilepsia, EarlyView.
Abstract Objective The primary purpose was to assess the diagnostic performance of investigations in children with myoclonic epilepsy. The secondary objectives were to examine the definitive syndromic diagnoses and report the outcomes of pediatric myoclonic epilepsies.
Sophie Brulé, Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh‐Bergès, François‐Xavier Mauvais, Stéphane Auvin   +5 more
wiley   +1 more source

Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly [PDF]

, 2002
Sinthia Andries
openalex   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas

, 1994
Carsten Hagemann
openalex   +2 more sources

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal [PDF]

, 2003
Catherine E. Keegan, Éric Vilain, M.H. Afif, Jessica A. Lehoczky, William B. Dobyns, Steven M. Archer, Jeffrey W. Innis   +6 more
openalex   +1 more source

Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study

Epilepsia, EarlyView.
Abstract We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment
Francesco Fortunato, Roberta De Fiores, Ilaria Sammarra, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Miriam Sturniolo, Iolanda Martino, Antonio Gambardella   +7 more
wiley   +1 more source

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [PDF]

, 2007
De Baere, Elfride, Jitendra, Jethani, Nallathambi, Jeyabalan, Neethirajan, Guruswamy, Sundaresan, Periasamy, Usha, Kim   +5 more
core   +2 more sources