Results 91 to 100 of about 22,857 (208)

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Discordant clinical outcomes of congenital Zika virus infection in twin pregnancies

Arquivos de Neuro-Psiquiatria
Congenital Zika syndrome is an emergent cause of a congenital infectious disorder, resulting in severe damage to the central nervous system and microcephaly.
Vanessa van der Linden, Hélio van der Linden Junior, Mariana de Carvalho Leal, Epitacio Leite Rolim Filho, Ana van der Linden, Maria de Fátima Viana Vasco Aragão, Alessandra Mertens Brainer-Lima, Danielle Di Cavalcanti Sousa Cruz, Liana O. Ventura, Telma Lúcia Tabosa Florêncio, Marli Tenório Cordeiro, Silvio da Silva Caudas Neto, Regina Coeli Ramos   +12 more
doaj   +1 more source

Zika Virus Potentiates the Development of Neurological Defects and Microcephaly: Challenges and Control Strategies

Frontiers in Neurology, 2019
Since the beginning of the Zika Virus (ZIKV) epidemic, thousands of cases presenting ZIKV symptoms were recorded in Brazil, Colombia (South America), French Polynesia and other countries of Central and North America.
Rabeea Siddique, Rabeea Siddique, Yang Liu, Yang Liu, Ghulam Nabi, Ghulam Nabi, Wasim Sajjad, Wasim Sajjad, Mengzhou Xue, Mengzhou Xue, Suliman Khan, Suliman Khan, Suliman Khan   +12 more
doaj   +1 more source

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly. [PDF]

Genes (Basel), 2021
Dawidziuk M, Gambin T, Bukowska-Olech E, Antczak-Marach D, Badura-Stronka M, Buda P, Budzynska E, Castaneda J, Chilarska T, Czyzyk E, Eckersdorf-Mastalerz A, Fijak-Moskal J, Gieruszczak-Bialek D, Glodek-Brzozowska E, Goszczanska-Ciuchta A, Grzeszykowska-Podymniak M, Gurda B, Jakubiuk-Tomaszuk A, Jamroz E, Janeczko M, Jedlińska-Pijanowska D, Jurek M, Karolewska D, Kazmierczak A, Kleist T, Kochanowska I, Krajewska-Walasek M, Kufel K, Kutkowska-Kaźmierczak A, Lipiec A, Maksym-Gasiorek D, Materna-Kiryluk A, Mazurkiewicz H, Milewski M, Pavina-Guglas T, Pietrzyk A, Posmyk R, Pyrkosz A, Rudzka-Dybala M, Slezak R, Wisniewska M, Zalewska-Miszkurka Z, Szczepanik E, Obersztyn E, Bekiesinska-Figatowska M, Gawlinski P, Wiszniewski W.   +46 more
europepmc   +1 more source

Phenotypic Characterization of Five Children With PACS1‐NDD: Longitudinal Insights Into Development, Behavior, and Brain

Clinical Genetics, EarlyView.
Longitudinal multimodal assessment of five children with PACS1‐NDD revealed global developmental delays, prominent restricted and repetitive behaviors, relatively preserved social interest, heterogeneous language trajectories, and reduced gray and white matter volumes.
Fiona Journal, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Marie Schaer   +4 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, Sayoni Roy Chowdhury, Lindsey Vogt, Jolynn Dickson, Karen Owusu, Pradeep Krishnan, Suvasini Sharma, Liali Aljouda, Reena Pabari, Grace Yoon, Carolina Gorodetsky   +12 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness]. [PDF]

Rev Neurol, 2023
Arroyo-Carrera I, Solo de Zaldívar-Tristancho M, García Navas-Núñez VD, Ramajo-Polo A, Gutiérrez-Agujetas M.   +4 more
europepmc   +1 more source