Results 51 to 60 of about 8,041 (202)

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Double Cortex Syndrome

Pediatric Neurology Briefs, 1999
The incidence of mutations in the X-linked gene doublecortin in patients with “double cortex” syndrome (DC; also called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees ...
J Gordon Millichap
doaj   +1 more source

Hippocampal and Congenital Brain Malformations

Pediatric Neurology Briefs, 2009
Sixty two patients, aged 15 days to 18 years, with congenital brain malformations were evaluated retrospectively to determine the association of various brain malformations with hippocampal abnormalities, in a study at Baskent University, Ankara, Turkey.
J Gordon Millichap
doaj   +1 more source

Anesthetic Management and Bispectral Index in a Child with Miller–Dieker Syndrome: A Case Report

Children, 2023
Miller–Dieker syndrome (MDS) is a genetic disorder characterized by classic lissencephaly, distinctive facial features, intellectual disability, seizures, and early death. The anesthetic management of patients with MDS should focus on airway manipulation
Sang Jin Park, Jongyoon Baek, Suyoun Chun, Eun Kyung Choi   +3 more
doaj   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Capturing the pathomechanisms of different disease severities in a human cerebral organoid model of LIS1-lissencephaly

, 2022
Lissencephaly is a developmental cortical malformation characterized by reduced to absent gyri and a disorganized cortex. Heterozygous mutations in the LIS1 gene, encoding a regulator of the microtubule-motor dynein, were identified to cause ...
Anne Hoffrichter, Ammar Jabali, Camille Maillard, Fiona Francis, Andrea Carlo Rossetti, Lea Zillich, Fabio Marsoner, Olivia Fechtner, Julia Ladewig, Nadia Bahi-Buisson, Ruven Wilkens, Eric Poisel, Philipp Koch, Zillich, Lea, Artioli, Annasara, Ladewig, Julia, Hoffrichter, Anne, Jabali, Ammar, Meuth, Sven, G, Marsoner, Fabio, Ruck, Tobias, Witt, Stephanie, Roos, Andreas, Schroeter, Christina, B, Koch, Philipp, Zillich, Eric, Hentschel, Andreas, Melzer, Nico, Maillard, Camille, Fechtner, Olivia, Gasparotto, Matteo, Wilkens, Ruven, Rossetti, Andrea Carlo, Bahi-Buisson, Nadia, Francis, Fiona   +34 more
core   +1 more source

The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend

Journal of Developmental Biology, 2017
Microtubules are dynamic cytoskeletal polymers that mediate numerous, essential functions such as axon and dendrite growth and neuron migration throughout brain development.
Jayne Aiken, Georgia Buscaglia, Emily A. Bates, Jeffrey K. Moore   +3 more
doaj   +1 more source

Neuroanatomy education through the years: Revisiting the teaching slides used by Sir Wilfrid Edward Le Gros Clark

Journal of Anatomy, EarlyView.
This paper examines the life and legacy of British anatomist Sir Wilfrid Le Gros Clark through his neuroanatomical teaching collection at the University of Oxford. The authors catalogued 103 specimens and analyzed selected slides—including cases of multiple sclerosis, amyotrophic lateral sclerosis, tabes dorsalis, syringomyelia, and the pineal gland's ...
Shiva A. Nischal, Kush M. Kale, Katherine Tourigny, Mohammed Abuelem, Gretchen Greene, Rachel Walsh, Zoltán Molnár   +6 more
wiley   +1 more source

The assessment of fetal behavior of a fetus with lissencephaly by 4D ultrasound

, 2013
Lissencephaly is malformation of gyral and sulcal structures of the cerebrum as a result of abnormal neuronal migration. The most common clinical manifestations of lissencephaly are severe psychomotor retardation, developmental defects, seizures, failure
Gönenç G., Güdücü N., Yi?iter A.B., Işçi H.   +3 more
core   +1 more source

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. [PDF]

, 2019
Lissencephaly is a severe brain malformation in which failure of neuronal migration results in agyria or pachygyria and in which the brain surface appears unusually smooth.
Chen, DY, Gleeson, JG, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Stanley, V, Dobyns, WB, Kozenko, M, James, KN, Altunoglu, U, Morsy, H, Lee, S, McEvoy-Venneri, J, Jamshidi, Y, Zaki, MS, Gleeson, Joseph G, Mancini, GMS, Schot, Rachel, Schot, R, Manzini, MC, Stanley, Valentina, Karimiani, EG, Lee, Sangmoon, Zaki, Maha S, Abdin, D, Kalayci, T, McEvoy-Venneri, Jennifer, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Maroofian, R, Brick, Lauren, Houlden, H, Chen, Dillon Y, Di Donato, N, James, Kiely N, Kozenko, Mariya, Mirzaa, GM, Beiraghi Toosi, M, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M, Dobyns, William B, Verheijen - Mancini, Grazia, Brick, L, Manzini, M Chiara, Houlden, Henry, Altunoglu, Umut, Di Donato, Nataliya, Mancini, Grazia MS, Beiraghi, Toosi, Di, Donato, Kalayci, Tuğba   +50 more
core   +1 more source