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Gail Billingsley, Ajoy Vincent, Catherine Deveault & Elise Héon. (2012) Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly. Ophthalmic Genetics 33:3, pages 150-154.
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Harshavardhini Gnanasekaran, Sathya Priya Chandrasekhar, Suganya Kandeeban, Porkodi Periyasamy, Muna Bhende, Vikas Khetan, Neerja Gupta, Madhulika Kabra, Sheela Namboothri, Parveen Sen & Sarangapani Sripriya. (2023)
Mutation profile of
Bardet‐Biedl
syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
. Clinical Genetics.
Crossref
Crossref
Brais Bea-Mascato & Diana Valverde. (2023) Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis. Journal of Medical Genetics, pages jmg-2023-109175.
Crossref
Crossref
Jie Shi, Ke Xu, Xin Zhang, Yue Xie, Haoyu Chang & Yang Li. (2023) A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. Frontiers in Genetics 13.
Crossref
Crossref
Ernesto Picon-Galindo, Eicke Latz & Dagmar Wachten. (2022) Primary cilia and their effects on immune cell functions and metabolism: a model. Trends in Immunology 43:5, pages 366-378.
Crossref
Crossref
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera & Mariya Moosajee. (2021) Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts. EBioMedicine 70, pages 103515.
Crossref
Crossref
E. A. Potrokhova, M. L. Babayan, L. S. Baleva, M. P. Safonova & A. E. Sipyagina. (2021) Bardet–Biedl Syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65:6, pages 76-83.
Crossref
Crossref
Omar Ali, Alvina Kansra & Patricia A. Donohoue. 2021. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
1
24
.
Makito Hirano, Wataru Satake, Nobuko Moriyama, Ken Saida, Nobuhiko Okamoto, Pei-Chieng Cha, Yutaka Suzuki, Susumu Kusunoki & Tatsushi Toda. (2020) Bardet–Biedl syndrome and related disorders in Japan. Journal of Human Genetics 65:10, pages 847-853.
Crossref
Crossref
Laura Mauring, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus & Jean Muller. (2020) Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation. Frontiers in Genetics 11.
Crossref
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E. Geets, M.E.C. Meuwissen & W. Van Hul. (2018) Clinical, molecular genetics and therapeutic aspects of syndromic obesity. Clinical Genetics 95:1, pages 23-40.
Crossref
Crossref
Fadi Nasser, Nicole Weisschuh, Pietro Maffei, Gabriella Milan, Corina Heller, Eberhart Zrenner, Susanne Kohl & Laura Kuehlewein. (2018)
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the
ALMS1
gene
. Acta Ophthalmologica 96:4, pages e445-e454.
Crossref
Crossref
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian & Wenhao Zhou. (2017) Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome. BMC Medical Genetics 18:1.
Crossref
Crossref
Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen B. Richardson, Kelsey A. McFadden, Jason R. Willer, Davut Pehlivan, Pengfei Liu, Igor L. Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R. Lupski, Erica E. Davis & Nicholas Katsanis. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. The American Journal of Human Genetics 99:2, pages 318-336.
Crossref
Crossref
Sathya Priya, Sheela Nampoothiri, Parveen Sen & S Sripriya. (2016) Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian Journal of Ophthalmology 64:9, pages 620.
Crossref
Crossref
Sophie Scheidecker, Sarah Hull, Yaumara Perdomo, Fouzia Studer, Valérie Pelletier, Jean Muller, Corinne Stoetzel, Elise Schaefer, Sabine Defoort-Dhellemmes, Isabelle Drumare, Graham E. Holder, Christian P. Hamel, Andrew R. Webster, Anthony T. Moore, Bernard Puech & Hélène J. Dollfus. (2015) Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. American Journal of Ophthalmology 160:2, pages 364-372.e1.
Crossref
Crossref
Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell Dinwiddie, Emily G. Farrow, Neil A. Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor & Jürgen K. Naggert. (2015)
Alström Syndrome: Mutation Spectrum of
ALMS1
. Human Mutation 36:7, pages 660-668.
Crossref
Crossref
Min Kyeong KimSoo Heon KwakShinae KangHye Seung JungYoung Min ChoSeong Yeon KimKyong Soo Park. (2015) Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing. Diabetes & Metabolism Journal 39:5, pages 439.
Crossref
Crossref
Donatella Milani, Marta Cerutti, Lidia Pezzani, Pietro Maffei, Gabriella Milan & Susanna Esposito. (2014) Syndromic obesity: clinical implications of a correct diagnosis. Italian Journal of Pediatrics 40:1.
Crossref
Crossref
Stephanie Chan, Paul R. Freund & Ian MacDonald. (2013) Advances in the genetics of eye diseases. Current Opinion in Pediatrics 25:6, pages 645-652.
Crossref
Crossref
Bharati Vusirikala, Veena Rajkumar, Maitrayee Choudhary, Rajesh Peter, Alan Rees & Hemanth Bolusani. (2013) Alstrom syndrome – a diagnosis revisited. The British Journal of Diabetes & Vascular Disease 13:2, pages 74-77.
Crossref
Crossref
Vincent Marion, Anaïs Mockel, Charlie De Melo, Cathy Obringer, Aurélie Claussmann, Alban Simon, Nadia Messaddeq, Myriam Durand, Luc Dupuis, Jean-Philippe Loeffler, Peter King, Catherine Mutter-Schmidt, Nikolai Petrovsky, Corinne Stoetzel & Hélène Dollfus. (2012) BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response. Cell Metabolism 16:3, pages 363-377.
Crossref
Crossref