Results 81 to 90 of about 22,198 (205)

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. [PDF]

Cells, 2023
Asif M, Abdullah U, Nürnberg P, Tinschert S, Hussain MS.   +4 more
europepmc   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

Clinical Genetics, EarlyView.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +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

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +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

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 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

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source