Results 71 to 80 of about 2,255 (147)

Galloway-Mowat syndrome: Prenatal ultrasound and perinatal magnetic resonance imaging findings

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present prenatal ultrasound and perinatal magnetic resonance imaging (MRI) findings of Galloway-Mowat syndrome. Case Report: A 31-year-old woman, gravida 3, para 2, was referred for genetic counseling at 29 weeks of gestation because of ...
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Jeng-Daw Tsai, Chen-Yu Chen, Shin-Lin Shih, Fuu-Jen Tsai, Pei-Chen Wu, Wayseen Wang   +8 more
doaj   +1 more source

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria [PDF]

, 2020
Stephanie Waich, Andreas Janecke, Walther Parson, Susanne Greber‐Platzer, Andreas Th. Müller, Lukas A. Huber, Taras Valovka, Julia Vodopiutz   +7 more
openalex   +1 more source

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG

Arquivos de Neuro-Psiquiatria, 2006
INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum,
Mônica Jaques Spinosa, Paulo Breno Noronha Liberalesso, Simone Carreiro Vieira, Alaídes Susana Fojo Olmos, Alfredo Löhr Júnior   +4 more
doaj   +1 more source

Neuronal migration disorders. Part II: Magnetic resonance imaging

The Turkish Journal of Pediatrics, 1998
With the widespread use of magnetic resonance imaging (MRI), neuronal migration disorders (NMD), including lissencephaly, pachygyria, polymicrogyria, schizencephaly, unilateral hemimegalencephaly and gray matter heterotopia, are more frequently ...
I Saatçi, G Turanli, Y Renda
doaj  

Occipital pachygyria and polymicrogyria [PDF]

, 2020
INSERM
openalex   +1 more source

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene [PDF]

, 2021
Atul Gupta, Chaithanya Reddy, Lokesh Saini, Jaivinder Yadav, Rakesh Kumar, Jayne Houghton, Sian Ellard, Devi Dayal   +7 more
openalex   +1 more source

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population [PDF]

, 2019
D.L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Päivi Vieira, Kristiina Avela, Valérie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P.M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä   +18 more
openalex   +1 more source

Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child.

Iranian Journal of Public Health, 2014
We report an unusual case of hemimegalencephaly (HMG) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy.
Adrián Santana-Ramirez, Felipe Farias-Serratos, José Sanchez-Corona, Gema Castañeda-Cisneros, Nadia M Farias-Serratos   +4 more
doaj  

Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome. [PDF]

, 1990
Masato Tsukahara, Yoshitsugu Sugio, Tadashi Kajii, Masataka Takahashi, Makoto Hirota, Hiroyuki Kato   +5 more
openalex   +1 more source

A cause of intractable epilepsy: bilateral posterior agyria-pachygyria [PDF]

, 2015
Temel Tombul, Aysel Milanlıoğlu, Omer Faruk Odabas   +2 more
openalex   +1 more source