Results 281 to 290 of about 87,727 (384)

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Nature Genetics, 2017
D. Braun, Jia Rao, G. Mollet, G. Mollet, D. Schapiro, M. Daugeron, Weizhen Tan, O. Gribouval, O. Gribouval, O. Boyer, O. Boyer, Patrick Revy, Patrick Revy, Tilman Jobst-Schwan, J. Schmidt, Jennifer A. Lawson, D. Schanze, S. Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Nathalie Boddaert, B. Collinet, B. Collinet, G. Martin, G. Martin, D. Liger, S. Lovric, M. Furlano, M. Furlano, M. Furlano, I. C. Guerrera, Oraly Sanchez-Ferras, Jennifer F. Hu, Anne-Claire Boschat, Sylvia Sanquer, Sylvia Sanquer, B. Menten, S. Vergult, N. D. Rocker, Merlin Airik, Tobias Hermle, S. Shril, E. Widmeier, E. Widmeier, H. Gee, H. Gee, Won-Il Choi, C. E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, T. Basta, Verena Matejas, K. Scharmann, K. Scharmann, Sandra D. Kienast, Sandra D. Kienast, Babak Behnam, Babak Behnam, B. Beeson, Amber Begtrup, M. Bruce, G. Ch'ng, Shuan-pei Lin, Shuan-pei Lin, Jui-Hsing Chang, Chao Huei Chen, M. Cho, P. Gaffney, P. Gipson, Chyong-hsin Hsu, J. Kari, Y. Ke, C. Kiraly-Borri, Wai Ming Lai, E. Lemyre, R.O. Littlejohn, A. Masri, M. Moghtaderi, Kazuyuki Nakamura, F. Ozaltın, M. Praet, C. Prasad, A. Prytuła, Elizabeth R. Roeder, P. Rump, R. Schnur, T. Shiihara, Manish D. Sinha, Neveen A. Soliman, K. Soulami, D. Sweetser, Wen Hui Tsai, J. Tsai, J. Tsai, J. Tsai, R. Topaloğlu, U. Vester, David Viskochil, N. Vatanavicharn, Jessica L. Waxler, K. Wierenga, M. T. Wolf, Sik Nin Wong, S. A. Leidel, S. A. Leidel, Gessica Truglio, P. Dedon, P. Dedon, A. Poduri, Shrikant Mane, R. Lifton, R. Lifton, M. Bouchard, P. Kannu, D. Chitayat, D. Magen, B. Callewaert, H. Tilbeurgh, M. Zenker, C. Antignac, C. Antignac, F. Hildebrandt   +123 more
semanticscholar   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Hyperkinetic Movement Disorder in <i>KARS1</i>-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review. [PDF]

Neurol Int
Ferasin V, Raicich A, Ancora C, Bonemazzi I, Di Paola A, D'Errico I, Nosadini M, Ancona C, Pelizza MF, Cassina M, Toldo I.   +10 more
europepmc   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

[Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)]. [PDF]

Pan Afr Med J
Iddir S, Lounis B, Ouarab M, Guendoud T, Feghoul C, Benarab K, Hamzaoui A, Benssadi N.   +7 more
europepmc   +1 more source

Association between microcephaly, Zika virus infection, and other risk factors in Brazil: final report of a case-control study.

Lancet. Infectious Diseases (Print), 2017
T. V. D. de Araújo, R. Ximenes, D. B. Miranda-Filho, W. Souza, U. Montarroyos, Ana Paula Lopes de Melo, Sandra Valongueiro, M. de Albuquerque, C. Braga, S. P. B. Filho, Marli Cordeiro, Enrique Vazquez, Danielle Di Cavalcanti Sousa Cruz, C. Henriques, L. C. Bezerra, Priscila M. S. Castanha, R. Dhalia, Ernesto Torres Azevedo Marques-Júnior, C. Martelli, L. Rodrigues   +19 more
semanticscholar   +1 more source

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

Annals of Neurology, Volume 98, Issue 4, Page 864-870, October 2025.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir, Zia Ullah, Javeria Reza Alvi, Tipu Sultan, Stephanie Efthymiou, Frank Bosmans, Henry Houlden   +11 more
wiley   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

A Barrier to Understanding Teratogenicity: The Critical Periods of Sensitivity for Most Structural Birth Defects Precede the Established Hemochorial Placenta

Birth Defects Research, Volume 117, Issue 10, October 2025.
ABSTRACT Background Teratogens and other environmental factors influence human birth defect risk, but our understanding of how they reach the developing conceptus is surprisingly limited. The placenta is often invoked as a key mediator of teratogenicity by acting as a physical barrier that can block or regulate the transfer of harmful substances to the
Matthew A. Nangle, Khush Shah, Sathish Kumar, Robert J. Lipinski   +3 more
wiley   +1 more source

Correction for Lin et al., BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source