Results 81 to 90 of about 11,896 (240)

Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders [PDF]

, 2008
Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes.
O'Driscoll, Mark
core   +4 more sources

Early Postnatal Infection With Human Cytomegalovirus Has Long‐Term Consequences on Brain Structure of Former Preterm Born Children

Brain and Behavior, Volume 15, Issue 10, October 2025.
Cortical surface analyses of former preterm‐born children with (PT hCMV+) and without (PT hCMV−) early postnatal human Cytomegalovirus (hCMV) infection at ∼13 years of age. Note the strong effect of prematurity when compared to full‐term‐born children (FT, top), but the independent and even more widespread effect of HCMV infection (bottom).
Meike Müller, Karen Lidzba, Christian Gaser, Till‐Karsten Hauser, Rangmar Goelz, Klaus Hamprecht, Marko Wilke   +6 more
wiley   +1 more source

Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2016
Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy.
Gabriele Tonni, Pierpaolo Pattacini, Maria Paola Bonasoni, Edward Araujo Júnior   +3 more
doaj   +1 more source

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain [PDF]

, 2016
We present a generic, multidisciplinary approach for improving our understanding of novel missense variants in recently discovered disease genes exhibiting genetic heterogeneity, by combining clinical and population genetics with protein structural ...
Caroline F. Wright, Catherine McWilliam, Diana Johnson, Esther Kinning, Helen V. Firth, Janet M. Thornton, Kim, Miranda Splitt, Nidhi Tyagi, Roman A. Laskowski, Shelagh Joss, The Deciphering Developmental Disorders Study., Wu   +12 more
core   +2 more sources

Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children [PDF]

, 2022
Meriam Hadj Amor, Nejla Soyah, Nathalie Drouot, Ichraf Kraoua, Hela Ben Khelifa, Wafa Slimani, Sarra Dimassi, Hanene Hannachi, Ahlem Attig, Hedia Klai, Adnène Mlika, Lamia Boughamoura, Khaled Ben Helel, Ilhem Turki, N. Khouja, Jamel Chelly, Saad Hasan Mohammed Ali, Soumaya Mougou Zerelli   +17 more
openalex   +1 more source

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disorders, Volume 27, Issue 5, Page 1026-1031, October 2025.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng, Morris H. Scantlebury   +1 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

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

The Association of RNase L, Cytokines, and Chemokines With Severity of Multisystem Inflammatory Syndrome in Children

Journal of Medical Virology, Volume 97, Issue 10, October 2025.
ABSTRACT The 2′,5′‐oligoadenylate synthetase (OAS)‐ribonuclease L (RNase L) system, induced by type I interferons, defends against RNA viruses. Inborn errors in this pathway may trigger inflammatory cytokines, contributing to SARS‐CoV‐2‐related multisystem inflammatory syndrome in children (MIS‐C).
Ting‐Yu Yen, Chia‐Lang Hsu, Chun‐Yi Lu, Ni‐Chung Lee, Ming‐Tai Lin, Kuan‐Ying Arthur Huang, Boon Fatt Tan, Tu‐Hsuan Chang, Chun‐Min Kang, Wei‐Shiung Yang, Bor‐Luen Chiang, Li‐Min Huang, Hsin‐Hui Yu, Luan‐Yin Chang   +13 more
wiley   +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