Results 151 to 160 of about 42,754 (253)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Assessment of Vestibular Function in Patients with Congenital Bilateral Sensorineural Hearing Loss: A Case-Control Study. [PDF]

J Clin Med
Piechocka M, Markowski J, Śpiewak P, Dobosz P, Kopeć-Gołdyn S, Piechocki M.   +5 more
europepmc   +1 more source

The Impact of the G8 Score on Survival Outcomes in Patients With Head and Neck Cancer Undergoing Concurrent Radiotherapy With Cetuximab due to Contraindications With Cisplatin

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Purpose Patients unable to receive cisplatin due to age, comorbidities, or reduced performance status are commonly treated with concurrent radiotherapy (RT) and cetuximab. This study evaluated the prognostic significance of the Geriatric 8 (G8) score and the Charlson Comorbidity Index (CCI) in predicting survival outcomes in this population ...
Esin Kiraz, Mete Gündoğ, Rıdvan Gönül, İrfan Kara, İmdat Yüce, Sedat Çağlı   +5 more
wiley   +1 more source

Statement of Retraction: MiR-106a facilitates the sensorineural hearing loss induced by oxidative stress by targeting connexin-43. [PDF]

Bioengineered
europepmc   +1 more source

Pharmacotherapeutic Interventions for Sensorineural Hearing Loss: A Scoping Review. [PDF]

Audiol Res
Mavandi M, Hyler J, Lee E, Singh R, Swanepoel W, Nassiri AM, Manchaiah V.   +6 more
europepmc   +1 more source

H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.
Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad   +5 more
wiley   +1 more source

From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring. [PDF]

Diseases
Kovacevic G, Cirkovic S, Petrovic G, Stanojevic M, Lalic T, Ilic N, Ostojic S, Siljic M, Alimpic B, Tesic M, Ilic P, Krstic J, Cirkovic J, Sarajlija A.   +13 more
europepmc   +1 more source

CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
We generated retinal organoids from a patient with USH3A and performed single‐cell RNA sequencing. CLRN1 was specifically expressed in Müller cells, where its variants led to mitochondrial dysfunction and photoreceptor degeneration. ABSTRACT Background Usher syndrome 3A (USH3A), caused by mutations in the CLRN1 gene, leads to retinitis pigmentosa and ...
Rui Zhang, Xinbo Ji, Han Yu, Jingwen Xu, Yu Wang, Ping Sun, Yingxin Wang, Yao Tang, Zexin Zhan, Yichang Jiao, Didi Shan, Pengfei Lin, Dong‐dong Wang, Yuying Zhao, Xianyang Liu, Chuanzhu Yan, Jianqiao Li, Mingfeng Li, Fuchen Liu, Shengping Hou   +19 more
wiley   +1 more source

Prognostic factors for pediatric sudden sensorineural hearing loss: a systematic review and meta-analysis. [PDF]

Front Pediatr
Wu Z, Zhang P, Sun J, Diao M.
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source