The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome.Describe the endocrine and metabolic characteristics of a large BBS population compared with matched controls.Case-control.Hospital clinic.A clinical/genetic d...

Descrizione completa

Dettagli Bibliografici
Autori principali:	Mujahid, S, Hunt, KF, Cheah, YS, Forsythe, E, Hazlehurst, JM, Sparks, K, Mohammed, S, Tomlinson, JW, Amiel, SA, Carroll, PV, Beales, PL, Huda, MSB, McGowan, BM
Natura:	Journal article
Lingua:	English
Pubblicazione:	Oxford University Press 2018

Documenti analoghi

Genotype-phenotype correlation in Bardet-Biedl Syndrome
di: Forsythe, E, et al.
Pubblicazione: (2012)

Managing Bardet–Biedl Syndrome—Now and in the Future
di: Elizabeth Forsythe, et al.
Pubblicazione: (2018-02-01)

Energy metabolism in Bardet-Biedl syndrome.
di: Grace, C, et al.
Pubblicazione: (2003)

Bardet-Biedl syndrome
di: Mujammel Haque, et al.
Pubblicazione: (2016-08-01)

Síndroma de Bardet-Biedl.
di: Luís Siopa, et al.
Pubblicazione: (2002-02-01)

Sindroma Laurence-Moon-Bardet-Biedl
di: Perpustakaan UGM, i-lib
Pubblicazione: (1985)

Retinal Findings in Bardet-Biedl Syndrome
di: Mukut Roy, et al.
Pubblicazione: (2014-11-01)

Laurence-Moon-Bardet-Biedl Syndrome
di: JK Sahu, et al.
Pubblicazione: (2008-10-01)

Bardet–Biedl Syndrome in an Ethiopian
di: Tsegaw A, et al.
Pubblicazione: (2021-03-01)

Genetic testing for Bardet-Biedl syndrome
di: Abeshi Andi, et al.
Pubblicazione: (2017-10-01)

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
di: Prasanth Y.M., et al.
Pubblicazione: (2013-06-01)

Bardet-Biedl Syndrome: A Rare Entity
di: Anuja Goit, et al.
Pubblicazione: (2022-08-01)

Bangladeshi Case Series of Bardet–Biedl Syndrome
di: Fariah Osman, et al.
Pubblicazione: (2023-01-01)

Bardet–Biedl syndrome: a case series
di: Omer Ali Mohamed Ahmed Elawad, et al.
Pubblicazione: (2022-04-01)

SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ
di: Sorin Ioan Iurian, et al.
Pubblicazione: (2015-09-01)

Laurence-moon-biedl-bardet syndrome: An overview
di: Jamir Pitton Rissardo, et al.
Pubblicazione: (2021-01-01)

Report of four cases of Bardet-Biedl syndrome
di: Paulo Roberto Santos, et al.
Pubblicazione: (2014-04-01)

Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey
di: Elizabeth Forsythe, et al.
Pubblicazione: (2023-07-01)

Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
di: Naila Haq, et al.
Pubblicazione: (2019-10-01)

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
di: Elizabeth Forsythe, et al.
Pubblicazione: (2023-07-01)

Early diagnosis of Bardet-Biedl syndrome associated with obesity
Pubblicazione: (2008-03-01)

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
di: Melluso A, et al.
Pubblicazione: (2023-01-01)

Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism
di: Yatendra Singh, et al.
Pubblicazione: (2016-01-01)

Rare cause of pediatric obesity: Bardet - Biedl Syndrome
di: Mitul B Kalathia, et al.
Pubblicazione: (2014-01-01)

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
di: Neha Gupta, et al.
Pubblicazione: (2022-10-01)

Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
di: Metin Cetiner, et al.
Pubblicazione: (2024-11-01)

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
di: Shiyang Gao, et al.
Pubblicazione: (2024-04-01)

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
di: Zou Xin-Yi, et al.
Pubblicazione: (2023-11-01)

Prenatal diagnosis of Bardet Biedl Syndrome: A case report
di: Ena Arora, MD, et al.
Pubblicazione: (2023-01-01)

A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
di: Sandeep Shrestha, et al.
Pubblicazione: (2019-09-01)

Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
di: Michael Edwar, et al.
Pubblicazione: (2022-09-01)

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
di: Sathya Priya, et al.
Pubblicazione: (2016-01-01)

Laurence-Moon-Bardet-Biedl Syndrome: A case report
di: Md. Mozammel Haque, et al.
Pubblicazione: (2019-11-01)

Electrophysiological findings of Bardet–Biedl syndrome: a case series
di: Marwa A Tabl
Pubblicazione: (2020-01-01)

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome
di: Jethani Jitendra, et al.
Pubblicazione: (2007-01-01)

Visual acuity and retinal function in patients with Bardet-Biedl syndrome
di: Adriana Berezovsky, et al.
Pubblicazione: (2012-01-01)

Bardet-biedl syndrome in a child with chronic kidney disease
di: Valavi Ehsan, et al.
Pubblicazione: (2009-01-01)

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
di: Rachel D Starks, et al.
Pubblicazione: (2015-06-01)

Laurence Moon Bardet Biedl Syndrome (A typical presentation)
di: Batta R, et al.
Pubblicazione: (1978-01-01)

Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells
di: James Williams, et al.
Pubblicazione: (2023-06-01)