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Select item 79847221.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Meryl Waldman, Joan C. Han, Daniela P. Reyes-Capo, Joy Bryant, Kathryn A. Carson, Baris Turkbey, Peter Choyke, Jürgen K. Naggert, William A. Gahl, Jan D. Marshall, Meral Gunay-Aygun

Mol Genet Metab. Author manuscript; available in PMC 2021 Mar 22.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 181–191. Published online 2018 Jul 24. doi: 10.1016/j.ymgme.2018.07.010

PMCID:: PMC7984722

Abstract Article PDF–567K

Select item 71714432.

Respiratory Manifestations in 38 Patients With Alström Syndrome

Caroline Boerwinkle, Jan D. Marshall, Joy Bryant, William A. Gahl, Kenneth N. Olivier, Meral Gunay-Aygun

Pediatr Pulmonol. Author manuscript; available in PMC 2020 Apr 21.

Published in final edited form as: Pediatr Pulmonol. 2017 Apr; 52(4): 487–493. Published online 2016 Dec 28. doi: 10.1002/ppul.23607

PMCID:: PMC7171443

Abstract Article PDF–317K

Select item 63270823.

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits

Tom Hearn

J Mol Med (Berl) 2019; 97(1): 1–17. Published online 2018 Nov 12. doi: 10.1007/s00109-018-1714-x

PMCID:: PMC6327082

Abstract Article PDF–4.1M

Select item 62766794.

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

Joan C Han, Daniela P Reyes-Capo, Chia-Ying Liu, James C Reynolds, Evrim Turkbey, Ismail Baris Turkbey, Joy Bryant, Jan D Marshall, Jürgen K Naggert, William A Gahl, Jack A Yanovski, Meral Gunay-Aygun

J Clin Endocrinol Metab. 2018 Jul; 103(7): 2707–2719. Published online 2018 Apr 27. doi: 10.1210/jc.2018-00496

PMCID:: PMC6276679

Abstract Article

Select item 62581445.

Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial

Shanat Baig, Vishy Veeranna, Shaun Bolton, Nicola Edwards, Jeremy W. Tomlinson, Konstantinos Manolopoulos, John Moran, Richard P. Steeds, Tarekegn Geberhiwot

BMC Endocr Disord. 2018; 18: 88. Published online 2018 Nov 26. doi: 10.1186/s12902-018-0315-6

PMCID:: PMC6258144

Abstract Article PDF–1.3M

Select item 55576926.

Spectral-domain optical coherence tomography findings in Alström syndrome

Gad Dotan, Vikas Khetan, Jan D. Marshall, Elizabeth Affel, Denise Armiger-George, Jürgen K Naggert, Gayle B Collin, Alex V. Levin

Ophthalmic Genet. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Ophthalmic Genet. 2017 Sep-Oct; 38(5): 440–445. Published online 2017 Jan 23. doi: 10.1080/13816810.2016.1257029

PMCID:: PMC5557692

Abstract Article PDF–1.0M

Select item 55552267.

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Alessandra Brofferio, Vandana Sachdev, Hwaida Hannoush, Jan D. Marshall, Jürgen K. Naggert, Stanislav Sidenko, Anna Noreuil, Arlene Sirajuddin, Joy Bryant, Joan C. Han, Andrew E. Arai, William A. Gahl, Meral Gunay-Aygun

Mol Genet Metab. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Mol Genet Metab. 2017 Aug; 121(4): 336–343. Published online 2017 May 30. doi: 10.1016/j.ymgme.2017.05.017

PMCID:: PMC5555226

Abstract Article PDF–499K

Select item 55350058.

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu‐Wai‐Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian‐Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis‐Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott, Timothy G. Barrett

Hum Mutat. 2017 Jul; 38(7): 764–777. Published online 2017 Jun 1. doi: 10.1002/humu.23233

PMCID:: PMC5535005

Abstract Article PDF–503K

Select item 55260549.

Auditory and Otologic Profile of Alström Syndrome: Comprehensive Single Center Data on 38 Patients

Spencer Lindsey, Carmen Brewer, Olga Stakhovskaya, H Jeffrey Kim, Chris Zalewski, Joy Bryant, Kelly A. King, Jürgen K. Naggert, William A Gahl, Jan D. Marshall, Meral Gunay-Aygun

Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2210–2218. Published online 2017 Jun 1. doi: 10.1002/ajmg.a.38316

PMCID:: PMC5526054

Abstract Article PDF–427K

Select item 551809310.

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou

BMC Med Genet. 2017; 18: 75. Published online 2017 Jul 19. doi: 10.1186/s12881-017-0418-3

PMCID:: PMC5518093

Abstract Article PDF–705K

Select item 551180111.

Refining genotype–phenotype correlation in Alström syndrome through study of primary human fibroblasts

Jian‐Hua Chen, Tarekegn Geberhiwot, Timothy G. Barrett, Richard Paisey, Robert K. Semple

Mol Genet Genomic Med. 2017 Jul; 5(4): 390–404. Published online 2017 May 15. doi: 10.1002/mgg3.296

PMCID:: PMC5511801

Abstract Article PDF–2.6M

Select item 546076712.

The phenotypic and molecular genetic spectrum of Alström Syndrome in 44 Turkish kindreds and a literature review of Alström Syndrome in Turkey

Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M. Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Müller, Jürgen K Naggert, Rıza Köksal Özgül

J Hum Genet. Author manuscript; available in PMC 2017 Jun 6.

Published in final edited form as: J Hum Genet. 2015 Jan; 60(1): 1–9. Published online 2014 Oct 9. doi: 10.1038/jhg.2014.85

Correction in:: J Hum Genet. 2015 Jan; 60(1): 51.

PMCID:: PMC5460767

Abstract Article PDF–485K

Select item 452500113.

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome

Richard B. Paisey, Jamie Smith, Catherine Carey, Timothy Barrett, Fiona Campbell, Pietro Maffei, Jan D. Marshall, Christopher Paisey, Richard P. Steeds, Nicola C. Edwards, Susan Bunce, Tarekegn Geberhiwot

J Clin Endocrinol Metab. 2015 Aug; 100(8): E1116–E1124. Published online 2015 Jun 11. doi: 10.1210/jc.2015-1577

PMCID:: PMC4525001

Abstract Article

Select item 451872414.

Exome Sequencing Establishes Diagnosis of Alström Syndrome in an Infant Presenting with Non-Syndromic Dilated Cardiomyopathy

Pamela A. Long, Jared M. Evans, Timothy M. Olson

Am J Med Genet A. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Am J Med Genet A. 2015 Apr; 0(4): 886–890. Published online 2015 Feb 23. doi: 10.1002/ajmg.a.36994

PMCID:: PMC4518724

Abstract Article PDF–132K

Select item 448322415.

Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

Nicola C. Edwards, William E. Moody, Mengshi Yuan, Adrian T. Warfield, Robert Cramb, Richard B. Paisey, Tarekegn Geberhiwot, Richard P. Steeds

Orphanet J Rare Dis. 2015; 10: 83. Published online 2015 Jun 24. doi: 10.1186/s13023-015-0292-z

PMCID:: PMC4483224

Abstract Article PDF–2.1M

Select item 447548616.

Alström Syndrome: Mutation spectrum of ALMS1

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

Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Hum Mutat. 2015 Jul; 36(7): 660–668. Published online 2015 May 18. doi: 10.1002/humu.22796

PMCID:: PMC4475486

Abstract Article PDF–532K

Select item 399261617.

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

Lincoln T. Shenje, Peter Andersen, Marc K. Halushka, Cecillia Lui, Laviel Fernandez, Gayle B. Collin, Nuria Amat-Alarcon, Wendy Meschino, Ernest Cutz, Kenneth Chang, Raluca Yonescu, Denise A. S. Batista, Yan Chen, Stephen Chelko, Jane E. Crosson, Janet Scheel, Luca Vricella, Brian D. Craig, Beth A. Marosy, David W. Mohr, Kurt N. Hetrick, Jane M. Romm, Alan F. Scott, David Valle, Jürgen K. Naggert, Chulan Kwon, Kimberly F. Doheny, Daniel P. Judge

Nat Commun. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: Nat Commun. 2014; 5: 3416. Published online 2014 Mar 4. doi: 10.1038/ncomms4416

PMCID:: PMC3992616

Abstract Article PDF–3.2M

Select item 386541218.

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

May Sanyoura, Cédric Woudstra, George Halaby, Patrick Baz, Valérie Senée, Pierre-Jean Guillausseau, Pierre Zalloua, Cécile Julier

Eur J Hum Genet. 2014 Jan; 22(1): 140–143. Published online 2013 May 8. doi: 10.1038/ejhg.2013.87

PMCID:: PMC3865412

Abstract Article PDF–544K

Select item 379885319.

Clinical utility gene card for: Alström Syndrome - update 2013

Jan D Marshall, Pietro Maffei, Sebastian Beck, Timothy G Barrett, Richard Paisey, Jürgen K Naggert

Eur J Hum Genet. 2013 Nov; 21(11) Published online 2013 Apr 24. doi: 10.1038/ejhg.2013.61

PMCID:: PMC3798853

Article PDF–198K

Select item 377960020.

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome

Jamal Mahamid, Avraham Lorber, Yoseph Horovitz, Stavit A Shalev, Gayle B Collin, Jürgen K Naggert, Jan D Marshall, Ronen Spiegel

Pediatr Cardiol. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Pediatr Cardiol. 2013 Feb; 34(2): 455–458. Published online 2012 Mar 24. doi: 10.1007/s00246-012-0296-6

PMCID:: PMC3779600

Abstract Article PDF–295K

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