Results 191 to 200 of about 90,161 (348)

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis [PDF]

, 2023
Feda E. Mohamed, Mohammad A. Ghattas, Taleb M. Almansoori, Mohammed Tabouni, Ibrahim Baydoun, Praseetha Kizhakkedath, Anne John, Hiba Alblooshi, Qudsia Shaukat, Fatma Al‐Jasmi   +9 more
openalex   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly

, 2021
Zhiyan Tao, Shaochong Bu, Fang Lü
openalex   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017 [PDF]

, 2021
Joan K. Morris, Iêda M. Orioli, Adriana Benavides‐Lara, María de la Paz Barboza‐Argüello, Maria Aurora Canessa Tapia, Giovanny Vinícius Araújo de França, Boris Groisman, Jorge Holguín, Paula Hurtado‐Villa, Marisol Ibarra‐Ramírez, Cecília Mellado, Rosa Pardo, Dania María Pastora Bucardo, Catherin Rodríguez, Ignacio Zarante, Elizabeth Limb, Helen Dolk   +16 more
openalex   +1 more source

A single mutation in the prM protein of Zika virus contributes to fetal microcephaly

Science, 2017
Ling Yuan, Xingyao Huang, Zhong-Yu Liu, Feng Zhang, Xingliang Zhu, Jiu-Yang Yu, Xue Ji, Yan-Peng Xu, Guanghui Li, Cui Li, Hong-Jiang Wang, Yongqiang Deng, Menghua Wu, Mengli Cheng, Qing Ye, Dong-Yang Xie, Xiao-Feng Li, Xiangxi Wang, Wei-feng Shi, Baoyang Hu, P. Shi, Zhiheng Xu, C. Qin   +22 more
semanticscholar   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

GAIA Congenital Microcephaly Level of Diagnostic Certainty [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source