Results for &quot;&quot;Microcephaly&quot;&quot;[mesh_terms]

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, Somayeh Bakhtiari, Abbas Tafakhori, Matthias Giersdorf, Andreas Hahn, Anja Weik, Kirsten Kolzter, Sajad Shafiee, Sheng Chih Jin, Friederike Körber, Min Ae Lee-Kirsch, Hossein Darvish, Sebahattin Cirak, Michael C Kruer, Anne Koy

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022;36():7-13

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management.

Delan Devakumar, Alasdair Bamford, Marcelo U Ferreira, Jonathan Broad, Richard E Rosch, Nora Groce, Judith Breuer, Marly A Cardoso, Andrew J Copp, Paula Alexandre, Laura C Rodrigues, Ibrahim Abubakar

The Lancet. Infectious diseases 2019;18(1):e1-e13

The many faces of the zinc finger protein 335 in brain development and immune system.

Danyang Li, Zhenzhen Quan, Junjun Ni, Hui Li, Hong Qing

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2023;165():115257

Microcephaly.

Sandrine Passemard, Angela M Kaindl, Alain Verloes

Handbook of clinical neurology 2014;111():129-41

Congenital zika syndrome and family impacts: an integrative review.

Ana Paula Lopes de Melo, Tereza Maciel Lyra, Jessyka Mary Vasconcelos Barbosa, Thália Velho Barreto de Araújo

Ciencia & saude coletiva 2023;28(5):1425-1441

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.

Eva M M Hoytema van Konijnenburg, Clara D van Karnebeek, Peter M van Hasselt, Sabine A Fuchs, Joline Rohof, Gautam Kok, Irena J J Muffels

Journal of inherited metabolic disease 2025;48(2):e70017

Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.

Jianjun Xiong, Bingwu Xiang, Xiang Chen, Tao Cai

Medicine 2019;98(10):e14780

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

B Guerci, C Samhani, C Larose

Diabetes & metabolism 2024;50(6):101572

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

Christina L Magyar, David R Murdock, Lindsay C Burrage, Hongzheng Dai, Seema R Lalani, Richard A Lewis, Yuezhen Lin, Marcela F Astudillo, Jill A Rosenfeld, Alyssa A Tran, James B Gibson, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao

American journal of medical genetics. Part A 2022;188(6):1868-1874

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T Thiel, Bernt Popp

Orphanet journal of rare diseases 2019;14(1):38

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.

Roberta Battini, Roberta Milone, Chiara Aiello, Guja Astrea, Antonella Sferra, Rosa Pasquariello, Giovanni Cioni, Enrico Bertini

Brain & development 2022;43(9):939-944

Evaluation of Possible Consequences of Zika Virus Infection in the Developing Nervous System.

Lais Takata Walter, Guilherme Shigueto Vilar Higa, Juliane Midori Ikebara, Danila Vedovello, Felipe Scassi Salvador, Silvia Honda Takada, Erika Reime Kinjo, Benjamin J Whalley, Márcia Aparecida Sperança, Alexandre Hiroaki Kihara

Molecular neurobiology 2018;55(2):1620-1629

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

Yunfei Cai, Min Peng, Shaoxin Li, Jinsong Bao, Hui Fang, Jing Chen, Hong Li, Zhige Li

Molecular genetics & genomic medicine 2025;13(4):e70089

Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.

Arman Zhao, Rui Zhou, Qin Gu, Min Liu, Bingbing Zhang, Jing Huang, Bin Yang, Ruen Yao, Jian Wang, Haitao Lv, Jian Wang, Yiping Shen, Hongying Wang, Xuqin Chen

Clinica chimica acta; international journal of clinical chemistry 2021;523():10-18