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1.

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

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

Mol Genet Metab ; 125(1-2): 181-191, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-30064963

2.

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

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

Mol Genet Metab ; 121(4): 336-343, 2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28610912

3.

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

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

Am J Med Genet A ; 173(8): 2210-2218, 2017 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-28573831

4.

Pituitary morphovolumetric changes in Alström syndrome.

Citton, Valentina; Maffei, Pietro; Marshall, Jan D; Baglione, Alessandro; Collin, Gayle B; Milan, Gabriella; Vettor, Roberto; Naggert, Jürgen K; Manara, Renzo.

J Neuroradiol ; 43(3): 195-9, 2016 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-26704672

5.

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall, Jan D; Muller, Jean; Collin, Gayle B; Milan, Gabriella; Kingsmore, Stephen F; Dinwiddie, Darrell; Farrow, Emily G; Miller, Neil A; Favaretto, Francesca; Maffei, Pietro; Dollfus, Hélène; Vettor, Roberto; Naggert, Jürgen K.

Hum Mutat ; 36(7): 660-8, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25846608

6.

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

Ozantürk, Aysegül; Marshall, Jan D; Collin, Gayle B; Düzenli, Selma; Marshall, Robert P; Candan, Sükrü; Tos, Tülay; Esen, Ihsan; Taskesen, Mustafa; Çayir, Atilla; Öztürk, Sükrü; Üstün, Ihsan; Ataman, Esra; Karaca, Emin; Özdemir, Taha Resid; Erol, Ilknur; Eroglu, Fehime Kara; Torun, Deniz; Pariltay, Erhan; Yilmaz-Güleç, Elif; Karaca, Ender; Atabek, M Emre; Elçioglu, Nursel; Satman, Ilhan; Möller, Claes; Muller, Jean; Naggert, Jürgen K; Özgül, Riza Köksal.

J Hum Genet ; 60(1): 1-9, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25296579

7.

Histopathology of the human inner ear in Alström's syndrome.

Nadol, Joseph B; Marshall, Jan D; Bronson, Roderick T.

Audiol Neurootol ; 20(4): 267-72, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26111748

8.

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

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

Pediatr Cardiol ; 34(2): 455-8, 2013 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-22447358

9.

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

Collin, Gayle B; Marshall, Jan D; Ikeda, Akihiro; So, W Venus; Russell-Eggitt, Isabelle; Maffei, Pietro; Beck, Sebastian; Boerkoel, Cornelius F; Sicolo, Nicola; Martin, Mitchell; Nishina, Patsy M; Naggert, Jürgen K.

Nat Genet ; 31(1): 74-8, 2002 May.

Artículo en Inglés | MEDLINE | ID: mdl-11941369

10.

Novel Alu retrotransposon insertion leading to Alström syndrome.

Taskesen, Mustafa; Collin, Gayle B; Evsikov, Alexei V; Güzel, Aysegül; Özgül, R Köksal; Marshall, Jan D; Naggert, Jürgen K.

Hum Genet ; 131(3): 407-13, 2012 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-21877133

11.

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

Bettini, Vera; Maffei, Pietro; Pagano, Claudio; Romano, Sara; Milan, Gabriella; Favaretto, Francesca; Marshall, Jan D; Paisey, Richard; Scolari, Francesco; Greggio, Nella A; Tosetto, Ilaria; Naggert, Jürgen K; Sicolo, Nicola; Vettor, Roberto.

Pediatr Diabetes ; 13(1): 59-67, 2012 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-21722283

12.

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

Ozantürk, Aysegül; Marshall, Jan D; Collin, Gayle B; Düzenli, Selma; Marshall, Robert P; Candan, Sükrü; Tos, Tülay; Esen, Ihsan; Taskesen, Mustafa; Çayir, Atilla; Öztürk, Sükrü; Üstün, Ihsan; Ataman, Esra; Karaca, Emin; Özdemir, Taha Resid; Erol, Ilknur; Eroglu, Fehime Kara; Torun, Deniz; Pariltay, Erhan; Yilmaz-Güleç, Elif; Karaca, Ender; Atabek, M Emre; Elçioglu, Nursel; Satman, Ilhan; Möller, Claes; Muller, Jean; Naggert, Jürgen K; Özgül, Riza Köksal.

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

Artículo en Inglés | MEDLINE | ID: mdl-25619591

13.

Caloric restriction in Alström syndrome prevents hyperinsulinemia.

Lee, Ni-Chung; Marshall, Jan D; Collin, Gayle B; Naggert, Jürgen K; Chien, Yin-Hsiu; Tsai, Wen-Yu; Hwu, Wuh-Liang.

Am J Med Genet A ; 149A(4): 666-8, 2009 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-19283853

14.

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.

Malm, Eva; Ponjavic, Vesna; Nishina, Patsy M; Naggert, Jürgen K; Hinman, Elizabeth G; Andréasson, Sten; Marshall, Jan D; Möller, Claes.

Arch Ophthalmol ; 126(1): 51-7, 2008 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-18195218

15.

Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.

Romano, Sara; Milan, Gabriella; Veronese, Caterina; Collin, Gayle B; Marshall, Jan D; Centobene, Cinzia; Favaretto, Francesca; Dal Pra, Chiara; Scarda, Alessandro; Leandri, Sonia; Naggert, Jürgen K; Maffei, Pietro; Vettor, Roberto.

Int J Mol Med ; 21(6): 731-6, 2008 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-18506366

16.

[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications]. / Presentación de un caso con síndrome de Alström: aspectos clínicos, moleculares y guías diagnósticas y anticipatorias.

Mendioroz, Jacobo; Bermejo, Eva; Marshall, Jan D; Naggert, Jürgen K; Collin, Gayle B; Martínez-Frías, María Luisa.

Med Clin (Barc) ; 131(19): 741-6, 2008 Nov 29.

Artículo en Español | MEDLINE | ID: mdl-19091203

17.

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

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

J Clin Endocrinol Metab ; 103(7): 2707-2719, 2018 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-29718281

18.

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

Marshall, Jan D; Hinman, Elizabeth G; Collin, Gayle B; Beck, Sebastian; Cerqueira, Rita; Maffei, Pietro; Milan, Gabriella; Zhang, Weidong; Wilson, David I; Hearn, Tom; Tavares, Purificação; Vettor, Roberto; Veronese, Caterina; Martin, Mitchell; So, W Venus; Nishina, Patsy M; Naggert, Jürgen K.

Hum Mutat ; 28(11): 1114-23, 2007 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-17594715

19.

Alström syndrome.

Marshall, Jan D; Beck, Sebastian; Maffei, Pietro; Naggert, Jürgen K.

Eur J Hum Genet ; 15(12): 1193-202, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17940554

20.

Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome.

Sinha, Sunil K; Bhangoo, Amrit; Anhalt, Henry; Maclaren, Noel; Marshall, Jan D; Collin, Gayle B; Naggert, Jürgen K; Ten, Svetlana.

J Pediatr Endocrinol Metab ; 20(9): 1045-52, 2007 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-18038714

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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.

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

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Pituitary morphovolumetric changes in Alström syndrome.

Alström Syndrome: Mutation Spectrum of ALMS1.

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

Histopathology of the human inner ear in Alström's syndrome.

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

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

Novel Alu retrotransposon insertion leading to Alström syndrome.

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

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

Caloric restriction in Alström syndrome prevents hyperinsulinemia.

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.

Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.

[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications]. / Presentación de un caso con síndrome de Alström: aspectos clínicos, moleculares y guías diagnósticas y anticipatorias.

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

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

Alström syndrome.

Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome.