Bardet-Biedl Syndrome Latest Advances

Find the Latest Research About Bardet-Biedl Syndrome

Last Updated: 06/30/2026

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Found 1214 publications

Acute generalised exanthematous pustulosis during fatal refractory shock in Bardet-Biedl syndrome: a complex multidrug reaction in a medically fragile child.

Acute generalised exanthematous pustulosis during fatal refractory shock in Bardet-Biedl syndrome: a complex multidrug reaction in a medically fragile child.

Journal: BMJ case reports
Published: June 08, 2026

Intellectual functioning in individuals with Bardet-Biedl syndrome.

Intellectual functioning in individuals with Bardet-Biedl syndrome.

Journal: The Clinical neuropsychologist
Published: April 08, 2026

Harnessing AlphaFold3 to elucidate BBSome structure and protein partners.

Harnessing AlphaFold3 to elucidate BBSome structure and protein partners.

Journal: American journal of physiology. Cell physiology
Published: March 31, 2026

Harnessing AlphaFold3 to Elucidate BBSome Structure and Protein Partners.

Harnessing AlphaFold3 to Elucidate BBSome Structure and Protein Partners.

Journal: American journal of physiology. Cell physiology
Published: March 31, 2026

Correction to "Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort".

Correction to "Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort".

Journal: Obesity (Silver Spring, Md.)
Published: March 23, 2026

Bardet-Biedl syndrome 1 mutations differentially impact BBSome integrity and ciliary trafficking.

Bardet-Biedl syndrome 1 mutations differentially impact BBSome integrity and ciliary trafficking.

Journal: Cell communication and signaling : CCS
Published: March 12, 2026

Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet-Biedl Syndrome.

Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet-Biedl Syndrome.

Journal: American journal of medical genetics. Part A
Published: February 23, 2026

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

Journal: American journal of medical genetics. Part A
Published: February 20, 2026

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Journal: Cureus
Published: February 07, 2026

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.

Journal: Frontiers in cell and developmental biology
Published: February 03, 2026

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Journal: BMJ case reports
Published: January 29, 2026

Endocrine Characteristics in Bardet Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary Clinic.

Endocrine Characteristics in Bardet Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary Clinic.

Journal: The Journal of clinical endocrinology and metabolism
Published: January 02, 2026
Showing 1-12 of 1,214

Last Updated: 06/30/2026