Publications by authors named "Jan D Marshall"

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Immunodeficiency in a Child with Alström Syndrome.
Taha Resid Ozdemir, Neslihan Edeer Karaca, Jan Davis Marshall, Necil Kutukculer, Guzide Aksu

Indian J Pediatr· October 2018

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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, Jan D Marshall

Mol Genet Metab· September 2018

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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, Jan D Marshall

J Clin Endocrinol Metab· July 2018

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Spectral-domain optical coherence tomography findings in Alström syndrome.
Gad Dotan, Vikas Khetan, Jan D Marshall, Elizabeth Affel, Denise Armiger-George

Ophthalmic Genet· December 2017

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Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
Spencer Lindsey, Carmen Brewer, Olga Stakhovskaya, Hung Jeffrey Kim, Chris Zalewski, Jan D Marshall

Am J Med Genet A· August 2017

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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

Mol Genet Metab· August 2017

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Respiratory manifestations in 38 patients with Alström syndrome.
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier

Pediatr Pulmonol· April 2017

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Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.
Amine Chakroun, Mariem Ben Said, Amine Ennouri, Imen Achour, Mouna Mnif, Jan D Marshall

Eur J Med Genet· September 2016

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Histopathology of the human inner ear in Alström's syndrome.
Joseph B Nadol, Jan D Marshall, Roderick T Bronson

Audiol Neurootol· June 2016

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Pituitary morphovolumetric changes in Alström syndrome.
Valentina Citton, Pietro Maffei, Jan D Marshall, Alessandro Baglione, Gayle B Collin

J Neuroradiol· June 2016

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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance.
Francesca Favaretto, Gabriella Milan, Gayle B Collin, Jan D Marshall, Fabio Stasi

PLoS One· December 2015

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Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.
Hans-Erik Frölander, Claes Möller, Mary Rudner, Sushmit Mishra, Jan D Marshall

Front Psychol· October 2015

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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, Jan D Marshall

J Clin Endocrinol Metab· August 2015

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Alström Syndrome: Mutation Spectrum of ALMS1.
Jan D Marshall, Jean Muller, Gayle B Collin, Gabriella Milan, Stephen F Kingsmore

Hum Mutat· July 2015

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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

J Hum Genet· January 2015

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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

J Hum Genet· January 2015

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Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.
Merlin G Butler, Kun Wang, Jan D Marshall, Jürgen K Naggert, Jasmine A Rethmeyer

Adv Genomics Genet· January 2015

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Theory-of-mind in adolescents and young adults with Alström syndrome.
Hans Erik Frölander, Claes Möller, Jan D Marshall, Annette Sundqvist, Berit Rönnåsen

Int J Pediatr Otorhinolaryngol· March 2014

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Clinical utility gene card for: Alström Syndrome - update 2013.
Jan D Marshall, Pietro Maffei, Sebastian Beck, Timothy G Barrett, Richard Paisey

Eur J Hum Genet· November 2013

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Alström syndrome: cardiac magnetic resonance findings.
Francesco Corbetti, Renato Razzolini, Vera Bettini, Jan D Marshall, Jürgen Naggert

Int J Cardiol· August 2013

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Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.
Jamal Mahamid, Avraham Lorber, Yoseph Horovitz, Stavit A Shalev, Gayle B Collin, Jan D Marshall

Pediatr Cardiol· February 2013

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Brain involvement in Alström syndrome.
Valentina Citton, Angela Favaro, Vera Bettini, Joseph Gabrieli, Gabriella Milan, Jan D Marshall

Orphanet J Rare Dis· February 2013

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Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
Vladimir Kuburović, Jan D Marshall, Gayle B Collin, Keith Nykamp, Nina Kuburović

Clin Dysmorphol· January 2013

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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.
Gayle B Collin, Jan D Marshall, Benjamin L King, Gabriella Milan, Pietro Maffei

PLoS One· October 2012

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Alström syndrome: genetics and clinical overview.
Jan D Marshall, Pietro Maffei, Gayle B Collin, Jürgen K Naggert

Curr Genomics· May 2011

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