Results 151 to 160 of about 172,130 (301)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1465-1478, July 2026.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Multi-scale analysis reveals key targets mediating BPA-induced sensorineural hearing loss. [PDF]

Medicine (Baltimore)
Yan X, Xuan J, Peng J.
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article

Pakistan Journal of Medicine and Dentistry
Background: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig, Sana Ansari, Nash Patel, Nial Considine   +3 more
doaj  

Sensorineural Hearing Loss After Transvenous Embolization of a Transverse-Sigmoid Sinus Dural Arteriovenous Fistula. [PDF]

Cureus
Yoshida K.
europepmc   +1 more source

Supra-Threshold Hearing and Fluctuation Profiles: Implications for Sensorineural and Hidden Hearing Loss

Journal of the Association for Research in Otolaryngology, 2018
L. Carney
semanticscholar   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

When hearing loss mimics autism: Enlarged vestibular aqueduct syndrome in an 11-year-old child-A case report. [PDF]

J Int Med Res
Alras A, Alfandi A, Khattab K, Hejaze B, Almoazen S, AlHourani AA, Abo Al Shamat A, Jumaa A, Alsharef Y, Alras T, Almukbel R, Othman H.   +11 more
europepmc   +1 more source

First Reported Case of Fulminant Weil's Disease in South Khorasan, Eastern Iran: Diagnostic Challenges in a Non‐Endemic Region and Implications for Military Deployment

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Weil's disease should be considered even in non‐endemic regions when compatible clinical findings are accompanied by relevant exposure history. This case is epidemiologically notable as the first documented report from South Khorasan Province, highlighting the diagnostic challenges of leptospirosis in non‐endemic settings and the potential ...
Zohreh Azarkar, Anahita Arian, Motahareh Mahi‐Birjand, Parvin Askari   +3 more
wiley   +1 more source

Severe Bilateral Sudden Sensorineural Hearing Loss Following Mild COVID-19 Infection Requiring Cochlear Implantation: A Case Report. [PDF]

Clin Case Rep
Šimunjak T, Županović L, Bacan F, Košec A, Ajduk J.   +4 more
europepmc   +1 more source