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Results: 1 to 20 of 85

1.

Combined occurrence of Alström syndrome and bronchiectasis.

Kaya A, Orbak Z, Cayir A, Döneray H, Tasdemir S, Ozantürk A, Bingöl F.

Pediatrics. 2014 Mar;133(3):e780-3. doi: 10.1542/peds.2013-0284. Epub 2014 Feb 17.

PMID:
24534407
[PubMed - indexed for MEDLINE]
2.

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Liang X, Li H, Li H, Xu F, Dong F, Sui R.

Mol Vis. 2013 Sep 7;19:1885-91. eCollection 2013.

PMID:
24049434
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Clinical utility gene card for: Alström Syndrome - update 2013.

Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK.

Eur J Hum Genet. 2013 Nov;21(11). doi: 10.1038/ejhg.2013.61. Epub 2013 Apr 24. No abstract available.

PMID:
23612576
[PubMed - indexed for MEDLINE]
4.

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

Romano S, Maffei P, Bettini V, Milan G, Favaretto F, Gardiman M, Marshall JD, Greggio NA, Pozzan GB, Collin GB, Naggert JK, Bronson R, Vettor R.

Clin Endocrinol (Oxf). 2013 Oct;79(4):529-36. doi: 10.1111/cen.12180. Epub 2013 Mar 26.

PMID:
23445176
[PubMed - indexed for MEDLINE]
5.

Brain involvement in Alström syndrome.

Citton V, Favaro A, Bettini V, Gabrieli J, Milan G, Greggio NA, Marshall JD, Naggert JK, Manara R, Maffei P.

Orphanet J Rare Dis. 2013 Feb 13;8:24. doi: 10.1186/1750-1172-8-24.

PMID:
23406482
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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]
Free PMC Article
7.

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
8.

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]
Free PMC Article
9.

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]
Free PMC Article
10.

Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.

Kanna RM, Gradil D, Boszczyk BM.

Eur Spine J. 2012 Dec;21(12):2418-24. doi: 10.1007/s00586-012-2305-0. Epub 2012 May 11.

PMID:
22576155
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
Free PMC Article
12.
13.

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

Taşdemir S, Güzel-Ozantürk A, Marshall JD, Collin GB, Ozgül RK, Narin N, Dündar M, Naggert JK.

Clin Genet. 2013 Jan;83(1):96-8. doi: 10.1111/j.1399-0004.2012.01883.x. Epub 2012 Apr 25. No abstract available.

PMID:
22533542
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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]
15.

Alström syndrome: cardiac magnetic resonance findings.

Corbetti F, Razzolini R, Bettini V, Marshall JD, Naggert J, Tona F, Milan G, Maffei P.

Int J Cardiol. 2013 Aug 20;167(4):1257-63. doi: 10.1016/j.ijcard.2012.03.160. Epub 2012 Apr 10.

PMID:
22498418
[PubMed - indexed for MEDLINE]
16.

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

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R.

Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24.

PMID:
22447358
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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]
18.

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]
19.

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]
20.

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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