Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
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Title
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
Authors
Keywords
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Journal
PEDIATRIC NEPHROLOGY
Volume 27, Issue 1, Pages 7-15
Publisher
Springer Nature
Online
2011-01-18
DOI
10.1007/s00467-010-1751-3
References
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Related references
Note: Only part of the references are listed.- High incidence of Bardet Biedl syndrome among the Bedouin
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- Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
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- Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes
- (2010) Tina Duelund Hjortshøj et al. HUMAN MUTATION
- Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
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- BBS10 mutations are common in 'Meckel'-type cystic kidneys
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- BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
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- Making sense of cilia in disease: The human ciliopathies
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- The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
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- Clinical spectrum of Bardet–Biedl syndrome among four Saudi Arabian families
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- The BBSome
- (2009) Hua Jin et al. CURRENT BIOLOGY
- Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
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- Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping
- (2009) H. M. Harville et al. JOURNAL OF MEDICAL GENETICS
- Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping
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- Autosomal recessive Bardet–Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders
- (2009) Michael P. Webb et al. KIDNEY INTERNATIONAL
- Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease
- (2009) L. de Pontual et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation
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- Le syndrome de Bardet-Biedl
- (2008) C. Rooryck et al. ANNALES D ENDOCRINOLOGIE
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
- (2008) Carmen C Leitch et al. NATURE GENETICS
- Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
- (2008) N. F. Berbari et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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