CHARGE Syndrome Latest Advances

Find the Latest Research About CHARGE Syndrome

Last Updated: 02/24/2026

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Found 883 publications

Cochlear Implantation in Patients with CHARGE Syndrome: A 10-Year Institutional Experience and Literature Review.

Cochlear Implantation in Patients with CHARGE Syndrome: A 10-Year Institutional Experience and Literature Review.

Journal: The Journal of laryngology and otology
Published: January 02, 2026

Correction: De Novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Correction: De Novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Journal: BMC pediatrics
Published: December 30, 2025

Genetic analysis of four children with CHARGE syndrome and a literature review

Genetic analysis of four children with CHARGE syndrome and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 26, 2025

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Journal: Stem cell research
Published: December 07, 2025

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.

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.

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.

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

Cochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.

Cochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: September 16, 2025

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.

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).

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.

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.

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
Showing 1-12 of 883

Last Updated: 02/24/2026