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Results: 1 to 20 of 76

Select item 231881381.

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Kuburović V, Marshall JD, Collin GB, Nykamp K, Kuburović N, Milenković T, Rakić S, Djuric M, Ječmenica J, Milenković S, Naggert JK.

Clin Dysmorphol. 2013 Jan;22(1):7-12. doi: 10.1097/MCD.0b013e32835b9017.

PMID:: 23188138; [PubMed - indexed for MEDLINE]

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Select item 228761092.

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D.

Mol Vis. 2012;18:1794-802. Epub 2012 Jul 3.

PMID:: 22876109; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 227737373.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

PMID:: 22773737; [PubMed - indexed for MEDLINE]

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Select item 226935854.

The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.

Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK.

PLoS One. 2012;7(5):e37925. doi: 10.1371/journal.pone.0037925. Epub 2012 May 31.

PMID:: 22693585; [PubMed - indexed for MEDLINE]

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Select item 225665585.

Mouse models of ciliopathies: the state of the art.

Norris DP, Grimes DT.

Dis Model Mech. 2012 May;5(3):299-312. doi: 10.1242/dmm.009340. Review.

PMID:: 22566558; [PubMed - indexed for MEDLINE]

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Select item 225211236.

A rare cause of bleeding esophageal varices: Alström syndrome.

Cakmak E, Acıbucu DO, Yonem O, Ataseven H.

Clin Res Hepatol Gastroenterol. 2012 Oct;36(5):e106-7. doi: 10.1016/j.clinre.2012.03.012. Epub 2012 Apr 18. No abstract available.

PMID:: 22521123; [PubMed - indexed for MEDLINE]

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Select item 224417237.

Diabetes mellitus in children and adolescents with genetic syndromes.

Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer TR, Holl RW; DPV-Wiss Study Group; BMBF Competence Network Diabetes.

Exp Clin Endocrinol Diabetes. 2012 Nov;120(10):579-85. doi: 10.1055/s-0032-1306330. Epub 2012 Mar 22.

PMID:: 22441723; [PubMed - indexed for MEDLINE]

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Select item 223038008.

Alström syndrome with acanthosis nigricans: a case report and literature review.

Akdeniz N, Bilgili SG, Aktar S, Yuca S, Calka O, Kilic A, Kosem M.

Genet Couns. 2011;22(4):393-400. Review.

PMID:: 22303800; [PubMed - indexed for MEDLINE]

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Select item 222189069.

Assessing PCP in the cochlea of mammalian ciliopathy models.

Jagger DJ, Forge A.

Methods Mol Biol. 2012;839:239-48. doi: 10.1007/978-1-61779-510-7_19.

PMID:: 22218906; [PubMed - indexed for MEDLINE]

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Select item 2200400910.

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, Dollfus H.

Ophthalmic Genet. 2012 Mar;33(1):18-22. doi: 10.3109/13816810.2011.620055. Epub 2011 Oct 17.

PMID:: 22004009; [PubMed - indexed for MEDLINE]

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Select item 2189744611.

Coronary artery disease in Alström syndrome.

Jatti K, Paisey R, More R.

Eur J Hum Genet. 2012 Jan;20(1):117-8. doi: 10.1038/ejhg.2011.168. Epub 2011 Sep 7.

PMID:: 21897446; [PubMed - indexed for MEDLINE]

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Select item 2187713312.

Novel Alu retrotransposon insertion leading to Alström syndrome.

Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, Marshall JD, Naggert JK.

Hum Genet. 2012 Mar;131(3):407-13. doi: 10.1007/s00439-011-1083-9. Epub 2011 Aug 30.

PMID:: 21877133; [PubMed - indexed for MEDLINE]

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Select item 2172228313.

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

Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R.

Pediatr Diabetes. 2012 Feb;13(1):59-67. doi: 10.1111/j.1399-5448.2011.00789.x. Epub 2011 Jul 3.

PMID:: 21722283; [PubMed - indexed for MEDLINE]

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Select item 2154133314.

ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.

Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R.

PLoS One. 2011 Apr 26;6(4):e19081. doi: 10.1371/journal.pone.0019081.

PMID:: 21541333; [PubMed - indexed for MEDLINE]

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Select item 2152218615.

Clinical utility gene card for: Alström syndrome.

Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB.

Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.72. Epub 2011 Apr 27. No abstract available.

PMID:: 21522186; [PubMed - indexed for MEDLINE]

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Select item 2151841316.

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

Mokashi A, Cummings EA.

Pediatr Diabetes. 2011 May;12(3 Pt 2):270-5. doi: 10.1111/j.1399-5448.2010.00698.x. Epub 2011 Mar 29.

PMID:: 21518413; [PubMed - indexed for MEDLINE]

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Select item 2127431017.

Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report.

Pirgon Ö, Atabek ME, Tanju IA.

J Clin Res Pediatr Endocrinol. 2009;1(6):278-80. doi: 10.4274/jcrpe.v1i6.278. Epub 2009 Nov 6.

PMID:: 21274310; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2115749618.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL.

Eur J Hum Genet. 2011 Apr;19(4):485-8. doi: 10.1038/ejhg.2010.207. Epub 2010 Dec 15.

PMID:: 21157496; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2113587519.

Alström syndrome: insights into the pathogenesis of metabolic disorders.

Girard D, Petrovsky N.

Nat Rev Endocrinol. 2011 Feb;7(2):77-88. doi: 10.1038/nrendo.2010.210. Epub 2010 Dec 7. Review.

PMID:: 21135875; [PubMed - indexed for MEDLINE]

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Select item 2112890620.

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

Kocova M, Sukarova-Angelovska E, Kacarska R, Maffei P, Milan G, Marshall JD.

Br J Dermatol. 2011 Apr;164(4):878-80. doi: 10.1111/j.1365-2133.2010.10157.x. Epub 2011 Mar 16. No abstract available.

PMID:: 21128906; [PubMed - indexed for MEDLINE]

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24 free full-text articles in PubMed Central

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. [Mol Vis. 2012]
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D. Mol Vis. 2012; 18:1794-802. Epub 2012 Jul 3.
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. [J Med Genet. 2012]
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, et al. J Med Genet. 2012 Aug; 49(8):502-12. Epub 2012 Jul 7.
The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PLoS One. 2012]
The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.
Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK. PLoS One. 2012; 7(5):e37925. Epub 2012 May 31.

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