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Select item 106663051.

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome

Aziz Belkadi, Gaurav Thareja, Adnan Khan, Nisha Stephan, Shaza Zaghlool, Anna Halama, Ayeda Abdulsalam Ahmed, Yasmin A. Mohamoud, Joel Malek, Karsten Suhre, Rayaz A. Malik

BMC Med Genomics. 2023; 16: 301. Published online 2023 Nov 23. doi: 10.1186/s12920-023-01739-w

PMCID:: PMC10666305

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Select item 104527402.

Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Isabella Peixoto de Barcelos, Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa Elden, Thomas S. Aleman, Erin C. O’Neil, Marni J. Falk, Hakon Hakonarson

Brain Sci. 2023 Aug; 13(8): 1210. Published online 2023 Aug 16. doi: 10.3390/brainsci13081210

PMCID:: PMC10452740

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Select item 104350243.

Crohn’s Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?

Margot L. Zuidhof, Tim G.J. de Meij, Sietse Q. Nagelkerke, Anne M. Smets, Ilan J.N. Koppen

JPGN Rep. 2023 Aug; 4(3): e333. Published online 2023 Jun 26. doi: 10.1097/PG9.0000000000000333

PMCID:: PMC10435024

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Select item 104271204.

Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases

Gabriela M Arroyo Gonzalez, Natalio Izquierdo

Cureus. 2023 Jul; 15(7): e41963. Published online 2023 Jul 16. doi: 10.7759/cureus.41963

PMCID:: PMC10427120

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Select item 104262955.

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report

Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande

Clin Med Insights Case Rep. 2023; 16: 11795476231193896. Published online 2023 Aug 14. doi: 10.1177/11795476231193896

PMCID:: PMC10426295

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Select item 103529156.

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

Ana Simičić Majce, Darija Tudor, Marko Simunovic, Marko Todorovic, Mladenka Parlov, Bernarda Lozic, Mirna Saraga-Babić, Marijan Saraga, Adela Arapović

Front Pediatr. 2023; 11: 1226595. Published online 2023 Jul 4. doi: 10.3389/fped.2023.1226595

PMCID:: PMC10352915

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Select item 103273417.

Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey

Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq

Orphanet J Rare Dis. 2023; 18: 182. Published online 2023 Jul 7. doi: 10.1186/s13023-023-02723-4

PMCID:: PMC10327341

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Select item 103271438.

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study

Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq

Orphanet J Rare Dis. 2023; 18: 181. Published online 2023 Jul 7. doi: 10.1186/s13023-023-02692-8

PMCID:: PMC10327143

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Select item 103204369.

Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome

Ju-Hee Lee, Tae Kyung Ha

J Metab Bariatr Surg. 2023 Jun; 12(1): 11–15. Published online 2023 Jun 29. doi: 10.17476/jmbs.2023.12.1.11

PMCID:: PMC10320436

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Select item 1031996510.

Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease

Mohammad Rasel, Ashif Istiak, Afra Saiara, Abdullah Al‐Jubair, Shariful Matin, Gobinda Chandra Roy

Clin Case Rep. 2023 Jul; 11(7): e7649. Published online 2023 Jul 4. doi: 10.1002/ccr3.7649

PMCID:: PMC10319965

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Select item 1027276411.

Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells

James Williams, Chloe Hurling, Sabrina Munir, Peter Harley, Carolina Barcellos Machado, Ana-Maria Cujba, Mario Alvarez-Fallas, Davide Danovi, Ivo Lieberam, Rocio Sancho, Philip Beales, Fiona M. Watt

Front Cell Dev Biol. 2023; 11: 1163825. Published online 2023 Jun 2. doi: 10.3389/fcell.2023.1163825

PMCID:: PMC10272764

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Select item 1021792812.

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair

Genes (Basel) 2023 May; 14(5): 1113. Published online 2023 May 19. doi: 10.3390/genes14051113

PMCID:: PMC10217928

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Select item 1019870813.

Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature

Saif A Saif, Suzan S Alzaidi, Abdullah F Alghamdi, Amal A Alharazi, Omar S Almansouri, Rehab Fadag

Cureus. 2023 Apr; 15(4): e37849. Published online 2023 Apr 19. doi: 10.7759/cureus.37849

PMCID:: PMC10198708

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Select item 1012257214.

Bangladeshi Case Series of Bardet–Biedl Syndrome

Fariah Osman, Md Iftekher Iqbal, M. Nazrul Islam, Syed Jahangir Kabir

Case Rep Ophthalmol Med. 2023; 2023: 4017010. Published online 2023 Apr 15. doi: 10.1155/2023/4017010

PMCID:: PMC10122572

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Select item 1003698115.

Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome

Claire Ervin, Lindsey Norcross, Usha G. Mallya, Sheri Fehnel, Robert S. Mittleman, Matthew Webster, Andrea M. Haqq, Robert M. Haws

Adv Ther. 2023; 40(5): 2394–2411. Published online 2023 Mar 24. doi: 10.1007/s12325-023-02443-y

PMCID:: PMC10036981

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Select item 995686216.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar

Genes (Basel) 2023 Feb; 14(2): 404. Published online 2023 Feb 3. doi: 10.3390/genes14020404

PMCID:: PMC9956862

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Select item 989697417.

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Andrea Melluso, Floriana Secondulfo, Giovanna Capolongo, Giovambattista Capasso, Miriam Zacchia

Ther Clin Risk Manag. 2023; 19: 115–132. Published online 2023 Jan 30. doi: 10.2147/TCRM.S338653

PMCID:: PMC9896974

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Select item 987293518.

Bardet–Biedl Syndrome Presenting in Adulthood

Chinmay Ankleshwaria, Bhavik Prajapati, Sarita Parmar, Vraj Rathod, Harsh Patel, Dixit Dhorajiya, Nirav Chavda, Kapil Parmar, Faiz Pathan, Minakshi Chauhan

Indian J Nephrol. 2022 Nov-Dec; 32(6): 633–636. Published online 2022 Oct 2. doi: 10.4103/ijn.ijn_320_21

PMCID:: PMC9872935

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Select item 986827519.

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice

Toneisha Stubbs, James I. Bingman, Jason Besse, Kirk Mykytyn

Front Cell Dev Biol. 2022; 10: 1092161. Published online 2023 Jan 9. doi: 10.3389/fcell.2022.1092161

PMCID:: PMC9868275

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Select item 984193720.

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq

Orphanet J Rare Dis. 2023; 18: 12. Published online 2023 Jan 16. doi: 10.1186/s13023-022-02602-4