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There are 10135 results for: content related to: Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome

  1. Alström Syndrome: Mutation Spectrum of ALMS1

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 660–668, 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 and Jürgen K. Naggert

    Article first published online : 18 MAY 2015, DOI: 10.1002/humu.22796

  2. You have free access to this content
    A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice

    Developmental Neurobiology

    Volume 73, Issue 1, January 2013, Pages: 1–13, Déborah Heydet, Lesley X. Chen, Claire Z. Larter, Chrystal Inglis, Michael A. Silverman, Geoffrey C. Farrell and Michel R. Leroux

    Article first published online : 20 JUL 2012, DOI: 10.1002/dneu.22031

  3. Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 836–841, Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger, Avigail Beryozkin, Shiran Ben-Simhon, Alexey Obolensky, Ziva Ben-Neriah, Zohar Argov, Eli Pikarsky, Yakov Fellig, Devorah Marks-Ohana, Rinki Ratnapriya, Eyal Banin, Dror Sharon and Anand Swaroop

    Article first published online : 14 JUL 2015, DOI: 10.1002/humu.22822

  4. Caloric restriction in Alström syndrome prevents hyperinsulinemia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 666–668, Ni-Chung Lee, Jan D. Marshall, Gayle B. Collin, Jürgen K. Naggert, Yin-Hsiu Chien, Wen-Yu Tsai and Wuh-Liang Hwu

    Article first published online : 12 MAR 2009, DOI: 10.1002/ajmg.a.32730

  5. ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone–rod dystrophy

    Clinical Genetics

    Y. Xu, L. Guan, X. Xiao, J. Zhang, S. Li, H. Jiang, X. Jia, Y. Yin, X. Guo, J. Wang and Q. Zhang

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12617

  6. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

    Human Mutation

    Volume 28, Issue 11, November 2007, Pages: 1114–1123, Jan D. Marshall, Elizabeth G. Hinman, Gayle B. Collin, Sebastian Beck, Rita Cerqueira, Pietro Maffei, Gabriella Milan, Weidong Zhang, David I. Wilson, Tom Hearn, Purificação Tavares, Roberto Vettor, Caterina Veronese, Mitchell Martin, W. Venus So, Patsy M. Nishina and Jürgen K. Naggert

    Article first published online : 26 JUN 2007, DOI: 10.1002/humu.20577

  7. Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

    Clinical Genetics

    Volume 72, Issue 4, October 2007, Pages: 351–356, RK Özgül, I Satman, GB Collin, EG Hinman, JD Marshall, O Kocaman, Y Tütüncü, T Yılmaz and JK Naggert

    Article first published online : 3 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00848.x

  8. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1450–1459, Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A. Gibbs and Rui Chen

    Article first published online : 23 SEP 2011, DOI: 10.1002/humu.21587

  9. A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

    Clinical Genetics

    K. Nikopoulos, G. U. Butt, P. Farinelli, M. Mudassar, E. Domènech-Estévez, C. Samara, M. Kausar, I. Masroor, R. Chrast, C. Rivolta and S. Siddiqi

    Article first published online : 18 AUG 2015, DOI: 10.1111/cge.12645

  10. Genetic evaluation of patients with Alström syndrome in the Polish population

    Clinical Genetics

    A. Zmyslowska, M. Borowiec, K. Antosik, R. Ploski, M. Ciechanowska, B. Iwaniszewska, A. Jakubiuk-Tomaszuk, W. Janczyk, M. Krawczynski, B. Salmonowicz, M. Stelmach and W. Mlynarski

    Article first published online : 24 SEP 2015, DOI: 10.1111/cge.12656

  11. Characterization of the IGF system in 15 patients with Alström syndrome

    Clinical Endocrinology

    Volume 66, Issue 2, February 2007, Pages: 269–275, Pietro Maffei, Mara Boschetti, Jan D. Marshall, Richard B. Paisey, Sebastian Beck, Eugenia Resmini, Gayle B. Collin, Jürgen K. Naggert, Gabriella Milan, Roberto Vettor, Francesco Minuto, Nicola Sicolo and Antonella Barreca

    Article first published online : 3 JAN 2007, DOI: 10.1111/j.1365-2265.2007.02721.x

  12. Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 886–890, Pamela A. Long, Jared M. Evans and Timothy M. Olson

    Article first published online : 23 FEB 2015, DOI: 10.1002/ajmg.a.36994

  13. The progression from obesity to type 2 diabetes in Alström syndrome

    Pediatric Diabetes

    Volume 13, Issue 1, February 2012, Pages: 59–67, Vera Bettini, Pietro Maffei, Claudio Pagano, Sara Romano, Gabriella Milan, Francesca Favaretto, Jan D. Marshall, Richard Paisey, Francesco Scolari, Nella A. Greggio, Ilaria Tosetto, Jürgen K. Naggert, Nicola Sicolo and Roberto Vettor

    Article first published online : 3 JUL 2011, DOI: 10.1111/j.1399-5448.2011.00789.x

  14. Alström syndrome is associated with short stature and reduced GH reserve

    Clinical Endocrinology

    Volume 79, Issue 4, October 2013, Pages: 529–536, S. Romano, P. Maffei, V. Bettini, G. Milan, F. Favaretto, M. Gardiman, J. D. Marshall, N. A. Greggio, G. B. Pozzan, G. B. Collin, J. K. Naggert, R. Bronson and R. Vettor

    Article first published online : 26 MAR 2013, DOI: 10.1111/cen.12180

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    Making sense of cilia in disease: The human ciliopathies

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 151C, Issue 4, 15 November 2009, Pages: 281–295, Kate Baker and Philip L. Beales

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30231

  16. Presentation and course of diabetes in children and adolescents with Alstrom syndrome

    Pediatric Diabetes

    Volume 12, Issue 3pt2, May 2011, Pages: 270–275, Arati Mokashi and Elizabeth A Cummings

    Article first published online : 29 MAR 2011, DOI: 10.1111/j.1399-5448.2010.00698.x

  17. Ciliogenic RFX transcription factors regulate FGF1 gene promoter

    Journal of Cellular Biochemistry

    Volume 113, Issue 7, July 2012, Pages: 2511–2522, Yi-Chao Hsu, Chien-Yu Kao, Yu-Fen Chung, Mei-Shu Chen and Ing-Ming Chiu

    Article first published online : 9 MAY 2012, DOI: 10.1002/jcb.24127

  18. Strain dependence of diet-induced NASH and liver fibrosis in obese mice is linked to diabetes and inflammatory phenotype

    Liver International

    Volume 34, Issue 7, August 2014, Pages: 1084–1093, Geoffrey C. Farrell, Auvro R. Mridha, Matthew M. Yeh, Todor Arsov, Derrick M. Van Rooyen, John Brooling, Tori Nguyen, Deborah Heydet, Viviane Delghingaro-Augusto, Christopher J. Nolan, Nicholas A. Shackel, Susan V. McLennan, Narci C. Teoh and Claire Z. Larter

    Article first published online : 25 OCT 2013, DOI: 10.1111/liv.12335

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    The Human Obesity Gene Map: The 2002 Update

    Obesity Research

    Volume 11, Issue 3, March 2003, Pages: 313–367, Yvon C. Chagnon, Tuomo Rankinen, Eric E. Snyder, S. John Weisnagel, Louis Pérusse and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2003.47

  20. The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations

    British Journal of Dermatology

    Volume 164, Issue 4, April 2011, Pages: 878–880, M. Kocova, E. Sukarova-Angelovska, R. Kacarska, P. Maffei, G. Milan and J.D. Marshall

    Article first published online : 16 MAR 2011, DOI: 10.1111/j.1365-2133.2010.10157.x