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Select item 82018611.

Sleep and physical activity patterns in adults and children with Bardet–Biedl syndrome

Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn, Tara Maki, Hema R. Murali, Robert M. Haws

Orphanet J Rare Dis. 2021; 16: 276. Published online 2021 Jun 14. doi: 10.1186/s13023-021-01911-4

PMCID:: PMC8201861

Abstract Article PDF–718K

Select item 80488362.

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians

Samantha E. Day, Yunhua L. Muller, Cigdem Koroglu, Sayuko Kobes, Kim Wiedrich, Darin Mahkee, Hye In Kim, Cris Van Hout, Nehal Gosalia, Bin Ye, Regeneron Genetics Center, Alan R. Shuldiner, William C. Knowler, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier

Obesity (Silver Spring) 2021 Apr; 29(4): 748–754. Published online 2021 Feb 22. doi: 10.1002/oby.23115

PMCID:: PMC8048836

Abstract Article PDF–466K

Select item 31997493.

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos, Leslie G Biesecker

BMC Med Genet. 2011; 12: 101. Published online 2011 Jul 27. doi: 10.1186/1471-2350-12-101

PMCID:: PMC3199749

Abstract Article PDF–245K

Select item 31860254.

Prevalence of Bardet–Biedl syndrome in Tunisia

Oussama M’hamdi, Ines Ouertani, Faouzi Maazoul, Habiba Chaabouni-Bouhamed

J Community Genet. 2011 Jun; 2(2): 97–99. Published online 2011 Feb 20. doi: 10.1007/s12687-011-0040-6

PMCID:: PMC3186025

Abstract Article PDF–76K

Select item 81103445.

Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome

Samantha A. Kops, Ranjit I. Kylat, Shanti Bhatia, Michael D. Seckeler, Brent J. Barber, Mohammad Y. Bader

J Pediatr Genet. 2021 Jun; 10(2): 126–130. Published online 2020 Mar 31. doi: 10.1055/s-0040-1708844

PMCID:: PMC8110344

Abstract Article PDF–438K

Select item 81140536.

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design

Robert M. Haws, Gregory Gordon, Joan C. Han, Jack A. Yanovski, Guojun Yuan, Murray W. Stewart

Contemp Clin Trials Commun. 2021 Jun; 22: 100780. Published online 2021 May 3. doi: 10.1016/j.conctc.2021.100780

PMCID:: PMC8114053

Abstract Article PDF–487K

Select item 81628637.

Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients

Miriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, Raffaele Raucci, Giancarlo Blasio, Maria Elena Onore, Emanuela Marchese, Francesco Trepiccione, Caterina Vitagliano, Valentina Di Iorio, Perna Alessandra, Francesca Simonelli, Vincenzo Nigro, Giovambattista Capasso, Davide Viggiano

Clin Kidney J. 2021 Jun; 14(6): 1545–1551. Published online 2020 Dec 6. doi: 10.1093/ckj/sfaa182

PMCID:: PMC8162863

Abstract Article PDF–602K

Select item 39663008.

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus

J Med Genet. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Med Genet. 2014 Feb; 51(2): 132–136. Published online 2013 Sep 11. doi: 10.1136/jmedgenet-2013-101785

PMCID:: PMC3966300

Abstract Article PDF–1.1M

Select item 81836189.

Appetite- and weight-inducing and -inhibiting neuroendocrine factors in Prader–Willi syndrome, Bardet–Biedl syndrome and craniopharyngioma versus anorexia nervosa

H Vlaardingerbroek, E L T van den Akker, A C S Hokken-Koelega

Endocr Connect. 2021 May 1; 10(5): R175–R188. Published online 2021 Apr 22. doi: 10.1530/EC-21-0111

PMCID:: PMC8183618

Abstract Article PDF–807K

Select item 568656610.

Beneficial Outcomes of Sleeve Gastrectomy in a Morbidly Obese Patient With Bardet-Biedl Syndrome

Marina Boscolo, Francoise Féry, Miriam Cnop

J Endocr Soc. 2017 Apr 1; 1(4): 317–322. Published online 2017 Mar 9. doi: 10.1210/js.2017-00071

PMCID:: PMC5686566

Abstract Article PDF–323K

Select item 317607511.

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

Jianjun Chen, Nizar Smaoui, Monia Ben Hamed Hammer, Xiaodong Jiao, S. Amer Riazuddin, Shyana Harper, Nicholas Katsanis, Sheikh Riazuddin, Habiba Chaabouni, Eliot L. Berson, J. Fielding Hejtmancik

Invest Ophthalmol Vis Sci. 2011 Jul; 52(8): 5317–5324. Published online 2011 Jul 18. doi: 10.1167/iovs.11-7554

PMCID:: PMC3176075

Abstract Article PDF–1.6M

Select item 825316912.

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Clarisse Delvallée, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C. Leitch, Georgios Kellaris, Corinne Stoetzel, Véronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-François Deleuze, Emmanuelle Génin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E. Davis, Hélène Dollfus, Jean Muller

Clin Genet. Author manuscript; available in PMC 2021 Jul 2.

Published in final edited form as: Clin Genet. 2021 Feb; 99(2): 318–324. Published online 2020 Nov 14. doi: 10.1111/cge.13878

PMCID:: PMC8253169

Abstract Article PDF–851K

Select item 826248113.

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

Liheng Wang, Yang Liu, George Stratigopoulos, Sunil Panigrahi, Lina Sui, Yiying Zhang, Charles A. Leduc, Hannah J. Glover, Maria Caterina De Rosa, Lisa C. Burnett, Damian J. Williams, Linshan Shang, Robin Goland, Stephen H. Tsang, Sharon Wardlaw, Dieter Egli, Deyou Zheng, Claudia A. Doege, Rudolph L. Leibel

J Clin Invest. 2021 Apr 15; 131(8): e146287. Published online 2021 Apr 15. doi: 10.1172/JCI146287

PMCID:: PMC8262481

Abstract Article PDF–10M

Select item 317412814.

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Cristina M Mihai, Jan D Marshall, Ramona M Stoicescu

J Med Case Reports. 2011; 5: 378. Published online 2011 Aug 15. doi: 10.1186/1752-1947-5-378

PMCID:: PMC3174128

Abstract Article PDF–657K

Select item 565285415.

Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease

A. Panny, I. Glurich, R.M. Haws, A. Acharya

J Dent Res. 2017 Nov; 96(12): 1361–1369. Published online 2017 Jun 29. doi: 10.1177/0022034517716913

PMCID:: PMC5652854

Abstract Article PDF–432K

Select item 311520316.

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

Julie C. Sapp, Darryl Nishimura, Jennifer J. Johnston, Edwin M. Stone, Elise Héon, Val C. Sheffield, Leslie G. Biesecker

Genet Med. Author manuscript; available in PMC 2011 Jun 15.

Published in final edited form as: Genet Med. 2010 Oct; 12(10): 623–627. doi: 10.1097/GIM.0b013e3181f07572

PMCID:: PMC3115203

Abstract Article PDF–541K

Select item 310741417.

End Stage Renal Disease, Differential Diagnosis, A Rare Genetic Disorder: Bardet–Biedl Syndrome: Case Report and Review

B. Sowjanya, U. Sreenivasulu, J. N. Naidu, N. Sivaranjani

Indian J Clin Biochem. 2011 Apr; 26(2): 214–216. Published online 2011 Feb 4. doi: 10.1007/s12291-011-0116-4

PMCID:: PMC3107414

Abstract Article PDF–111K

Select item 309643118.

Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome

Makito Hirano, Mitsuru Ohishi, Toshihide Yamashita, Yasushi Ikuno, Hiromi Iwahashi, Toshiyuki Mano, Ryu Ishihara, Ichiro Tanaka, Keiko Yanagihara, Chiharu Isono, Hikaru Sakamoto, Yusaku Nakamura, Susumu Kusunoki

Clin Med Insights Case Rep. 2011; 4: 17–20. Published online 2011 Mar 10. doi: 10.4137/CCRep.S6622

PMCID:: PMC3096431

Abstract Article PDF–419K

Select item 323673919.

Hyperactive Neuroendocrine Secretion Causes Size, Feeding, and Metabolic Defects of C. elegans Bardet-Biedl Syndrome Mutants

Brian H. Lee, Jason Liu, Daisy Wong, Supriya Srinivasan, Kaveh Ashrafi

PLoS Biol. 2011 Dec; 9(12): e1001219. Published online 2011 Dec 13. doi: 10.1371/journal.pbio.1001219

PMCID:: PMC3236739

Abstract Article PDF–1.5M

Select item 775233820.

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh

Clin Case Rep. 2020 Dec; 8(12): 3110–3115. Published online 2020 Sep 21. doi: 10.1002/ccr3.3357

PMCID:: PMC7752338

Abstract Article PDF–720K

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