Results 231 to 240 of about 67,545 (327)

Developmental Correlates of Microcephaly [PDF]

, 2009
J Gordon Millichap
openalex   +1 more source

Homozygous Mutation in the QARS1 Gene Causing Developmental Epileptic Encephalopathy in Siblings in the Southeast Asian Region: An Interesting Case Report and Discussion. [PDF]

Cureus
Srivastava P, Uddin MW, Diwakar K, Biswal S, Senapati A.   +4 more
europepmc   +1 more source

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants

Andrology, Volume 13, Issue 5, Page 1137-1148, July 2025.
Abstract Background Small RNAs interacting with PIWI (piRNAs) play a crucial role in regulating transposable elements and translation during spermatogenesis and are essential in male germ cell development. Disruptions in the piRNA pathway typically lead to severe spermatogenic defects and thus male infertility. The HENMT1 gene is a key player in piRNAs
Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Caroline Cazin, Jean‐Pascal Hograindleur, Marie Bidart, Emeline Fontaine, Pauline Plouvier, Florence Puch, Véronique Satre, Christophe Arnoult, Selima Fourati Ben Mustapha, Raoudha Zouari, Nicolas Thierry‑Mieg, Pierre F. Ray, Zine‑Eddine Kherraf, Charles Coutton, Guillaume Martinez   +17 more
wiley   +1 more source

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

, 2004
C Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R. Frank Kooy, Herbert A. Lubs, Roger E. Stevenson, Juliane Ramser, Charles E. Schwartz   +9 more
openalex   +1 more source

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review. [PDF]

Dev Neurobiol
Aydin H, Bolat H.
europepmc   +1 more source

Partial agenesis of the corpus callosum: Prenatal ultrasound characteristics, associations, and outcome

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 7, Page 1304-1317, July 2025.
Abnormal cavum septi pellucidi is the most common indirect sign of partial agenesis of corpus callosum (pACC). A cystic mass in the midline that communicates with the third ventricle may be an indirect sign of pACC. PACC is highly associated with intra‐ and extracranial malformations.
Changrong Zhou, Hezhou Li, Ruizheng Han, Hongrui Ren, Bin Shen, Xinxia Wang, Fangfang Feng, Mengmeng Wang, Ling Liu   +8 more
wiley   +1 more source

Early Cranial Ultrasound Lesions Predict Microcephaly at Age 2 Years in Preterm Infants [PDF]

, 2010
Kalpathy S. Krishnamoorthy, Karl Kuban, T. Michael O’Shea, Sjirk J. Westra, Elizabeth N. Allred, Alan Leviton   +5 more
openalex   +1 more source

Intrauterine Zika Virus Infection: An Overview of the Current Findings. [PDF]

J Pers Med
Dos Santos ALS, Rosolen BB, Ferreira FC, Chiancone IS, Pereira SS, Pontes KFM, Traina E, Werner H, Granese R, Araujo Júnior E.   +9 more
europepmc   +1 more source

Towards the convergent therapeutic potential of G protein‐coupled receptors in autism spectrum disorders

British Journal of Pharmacology, Volume 182, Issue 14, Page 3044-3067, July 2025.
Abstract Autism spectrum disorders (ASDs) are diagnosed in 1/100 children worldwide, based on two core symptoms: deficits in social interaction and communication, and stereotyped behaviours. G protein‐coupled receptors (GPCRs) are the largest family of cell‐surface receptors that transduce extracellular signals to convergent intracellular signalling ...
Anil Annamneedi, Caroline Gora, Ana Dudas, Xavier Leray, Véronique Bozon, Pascale Crépieux, Lucie P. Pellissier   +6 more
wiley   +1 more source

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation [PDF]

, 2010
Arijit Mukhopadhyay, Jamie M. Kramer, Gerard Merkx, Dorien Lugtenberg, Dominique Smeets, Merel A.W. Oortveld, Ellen A.W. Blokland, Jyoti Agrawal, Annette Schenck, Hans van Bokhoven, Erik Huys, Eric Schoenmakers, Ad Geurts van Kessel, C. E. van Nouhuys, Frans P.M. Cremers   +14 more
openalex   +1 more source