Results 201 to 210 of about 92,090 (322)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Teprotumumab and sensorineural hearing loss: a propensity score-matched retrospective cohort study. [PDF]

Endocr Connect
Barnett MJL, Lam J, Jara-Tantoco MN, Casipit C, Eidbo S, Anastasopoulou C.   +5 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Optical coherence tomography angiography findings in patients with sudden sensorineural hearing loss. [PDF]

Sci Rep
Kim J, Kwon HJ, Lee JJ, Lee S, Oh SJ, Choi SW.   +5 more
europepmc   +1 more source

The identification of the vowels with variation of temporal factors by sensorineural hearing-impaired.

, 1989
Akitoshi Yamada, Satoshi Imaizumi, Takashi Harada, Hiroshi Hosoi   +3 more
openalex   +2 more sources

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides [PDF]

, 1998
Xavier Estivill, Nancy Govea, Anna Barceló, E Perelló, Cèlia Bàdenas, E. herrera romero, Luis Moral, Rosaria Scozzari, Leila D'Urbano, Massimo Zeviani, Antonio Torroni   +10 more
openalex   +1 more source

Ototoxicity in Cancer Therapies

Oral Diseases, EarlyView.
Sady Selaimen da Costa, Nathaniel S. Treister, Caio Eddie de Melo Alves   +2 more
wiley   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source