CHARGE Syndrome Latest Advances

Olfactory dysfunction in CHARGE syndrome: a systematic review of prevalence, assessment methods, and clinical correlates.

Journal: Rhinology

Published: November 28, 2025

Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.

Journal: Cureus

Published: October 07, 2025

Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.

Journal: Annals of clinical and laboratory science

Published: September 17, 2025

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Journal: Journal of clinical research in pediatric endocrinology

Published: September 05, 2025

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Journal: Stem cell research

Published: August 22, 2025

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypes.

Journal: bioRxiv : the preprint server for biology

Published: August 06, 2025

New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.

Journal: Genesis (New York, N.Y. : 2000)

Published: July 28, 2025

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

Journal: Cureus

Published: July 18, 2025

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: July 02, 2025

Newborn nasal obstruction: Rare anatomical causes to consider.

Journal: Acta otorrinolaringologica espanola

Published: June 25, 2025

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Journal: Scientific reports

Published: June 21, 2025

Bilateral Choanal Atresia With Facial Deformity.

Journal: The Journal of craniofacial surgery

Published: June 19, 2025

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Olfactory dysfunction in CHARGE syndrome: a systematic review of prevalence, assessment methods, and clinical correlates.

Olfactory dysfunction in CHARGE syndrome: a systematic review of prevalence, assessment methods, and clinical correlates.

Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.

Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.

Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.

Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypes.

Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypes.

New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.

New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Newborn nasal obstruction: Rare anatomical causes to consider.

Newborn nasal obstruction: Rare anatomical causes to consider.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Bilateral Choanal Atresia With Facial Deformity.

Bilateral Choanal Atresia With Facial Deformity.