Results 231 to 240 of about 90,161 (348)

What are the established treatments and interventions for cognitive improvement in individuals with microcephaly?

Tripdatabase
openalex   +1 more source

Metabolic functions for molecular chaperones and stress proteins in microcephaly. [PDF]

Cell Mol Life Sci
Morris MJ, Ng DCH.
europepmc   +1 more source

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies [PDF]

, 2013
Emma Webb, Angham Almutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L. Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad Talal Alrifai, Mohammed Al Balwi, Mohammed Al Balwi, Seyedeh Neda Mousavy-Gharavy, Biljana Lukovic, Derek Burke, Mark J. McCabe, Tessa Kasia, Robert Kleta, Elia Stupka, Philip L. Beales, Dorothy Thompson, W.K. Chong, Fowzan S. Alkuraya, Juan Pedro Martı́nez-Barberá, Jane C. Sowden, Mehul Dattani   +25 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Compound Heterozygous <i>PNKP</i> Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review. [PDF]

NeuroSci
Ragona F, Messina G, Magri S, Doniselli FM, Freri E, Canafoglia L, Solazzi R, Gellera C, Granata T, DiFrancesco JC, Castellotti B.   +10 more
europepmc   +1 more source

Zika and the Risk of Microcephaly.

New England Journal of Medicine, 2016
M. Johansson, Luis Mier-y-Teran-Romero, J. Reefhuis, S. Gilboa, S. Hills   +4 more
semanticscholar   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Expanding the mutational spectrum of congenital microcephaly in Pakistani families. [PDF]

Front Genet
Farooq S, Asif M, Abbasi AA, Latif Z, Ku B, Makhdoom EUH, Shadab M, Khan MA, Muzammal M, Waqar R, Nisar R, Khan FS, Aslam S, Schweiger MR, Hussain MS.   +14 more
europepmc   +1 more source

The microcephaly protein Abnormal Spindle has an essential role in symmetrically dividing neural precursors to promote brain growth and development [PDF]

Shalini Chakraborty, Jack Govaerts, Abigail Hawke, Matthew Werbelow, Todd A. Schoborg   +4 more
openalex   +1 more source

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, Volume 15, Issue 5, 2 February 2026.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source