Bardet-Biedl Syndrome Latest Advances

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Journal: Ophthalmic genetics

Published: July 06, 2026

Kidney disease and surveillance testing in children with Bardet-Biedl syndrome: an administrative data study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: July 01, 2026

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

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

Journal: Computational and structural biotechnology journal

Published: May 29, 2026

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Journal: Stem cell research

Published: May 22, 2026

Diagnosing the canvas: challenging the diagnosis of Prader-Willi syndrome in Eugenia Martínez Vallejo (1674-1699).

Journal: The Journal of clinical endocrinology and metabolism

Published: May 21, 2026

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Journal: Genes

Published: May 04, 2026

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 01, 2026

Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome - a mixed-method cross-sectional study in the United Kingdom.

Journal: Frontiers in endocrinology

Published: April 17, 2026

Melanocortin-4 Receptor Regulation of Endocrine Axes and Clinical Effects of Setmelanotide.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 17, 2026

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.

Journal: American journal of physiology. Cell physiology

Published: March 31, 2026

Bardet-Biedl Syndrome Latest Advances

Find the Latest Research About Bardet-Biedl Syndrome

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Kidney disease and surveillance testing in children with Bardet-Biedl syndrome: an administrative data study.

Kidney disease and surveillance testing in children with Bardet-Biedl syndrome: an administrative data study.

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.

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Diagnosing the canvas: challenging the diagnosis of Prader-Willi syndrome in Eugenia Martínez Vallejo (1674-1699).

Diagnosing the canvas: challenging the diagnosis of Prader-Willi syndrome in Eugenia Martínez Vallejo (1674-1699).

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care.

Precision Medicine in patients with rare forms of genetic obesity: Necessity for coordinated and structured care.

Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome - a mixed-method cross-sectional study in the United Kingdom.

Hyperphagia severity is underestimated in adults with Bardet-Biedl syndrome - a mixed-method cross-sectional study in the United Kingdom.

Melanocortin-4 Receptor Regulation of Endocrine Axes and Clinical Effects of Setmelanotide.

Melanocortin-4 Receptor Regulation of Endocrine Axes and Clinical Effects of Setmelanotide.

Intellectual functioning in individuals with Bardet-Biedl syndrome.

Intellectual functioning in individuals with Bardet-Biedl syndrome.

Harnessing AlphaFold3 to elucidate BBSome structure and protein partners.

Harnessing AlphaFold3 to elucidate BBSome structure and protein partners.