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Items: 1 to 20 of 45

1.

Alström syndrome: genetics and clinical overview.

Marshall JD, Maffei P, Collin GB, Naggert JK.

Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912.

2.

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
3.

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

Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.

4.

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.

5.

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.

6.

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.

7.

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.

Izzi C, Maffei P, Milan G, Tardanico R, Foini P, Marshall J, Marega A, Scolari F.

Kidney Int. 2011 Mar;79(6):691-2. doi: 10.1038/ki.2010.514. No abstract available.

8.

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

9.

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.

10.

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.

11.

Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.

Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A.

Hum Mol Genet. 2011 Feb 1;20(3):466-81. doi: 10.1093/hmg/ddq493. Epub 2010 Nov 11.

12.

New insights and therapies for the metabolic consequences of Alström syndrome.

Paisey RB.

Curr Opin Lipidol. 2009 Aug;20(4):315-20. doi: 10.1097/MOL.0b013e32832dd51a. Review.

PMID:
19550324
13.

Cardiac magnetic resonance imaging in Alström syndrome.

Loudon MA, Bellenger NG, Carey CM, Paisey RB.

Orphanet J Rare Dis. 2009 Jun 10;4:14. doi: 10.1186/1750-1172-4-14.

14.

Alström syndrome and cecal volvulus in 2 siblings.

Khoo EY, Risley J, Zaitoun AM, El-Sheikh M, Paisey RB, Acheson AG, Mansell P.

Am J Med Sci. 2009 May;337(5):383-5. doi: 10.1097/MAJ.0b013e3181926594.

PMID:
19440062
15.

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS.

Am J Med Genet A. 2009 Feb 15;149A(4):662-5. doi: 10.1002/ajmg.a.32753.

PMID:
19283855
16.

Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes.

Paisey RB, Paisey RM, Thomson MP, Bower L, Maffei P, Shield JP, Barnett S, Marshall JD.

Diabetes Care. 2009 Mar;32(3):462-4. doi: 10.2337/dc08-1584. Epub 2008 Dec 17.

17.

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome.

Liu L, Dong B, Chen X, Li J, Li Y.

Eye (Lond). 2009 May;23(5):1210-2. doi: 10.1038/eye.2008.235. Epub 2008 Jul 25.

PMID:
18654604
18.

Genetic obesity syndromes.

Goldstone AP, Beales PL.

Front Horm Res. 2008;36:37-60. doi: 10.1159/0000115336. Review.

PMID:
18230893
19.

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

Malm E, Ponjavic V, Nishina PM, Naggert JK, Hinman EG, Andréasson S, Marshall JD, Möller C.

Arch Ophthalmol. 2008 Jan;126(1):51-7. doi: 10.1001/archophthalmol.2007.28.

PMID:
18195218
20.

Alstrom syndrome (OMIM 203800): a case report and literature review.

Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN.

Orphanet J Rare Dis. 2007 Dec 21;2:49. Review.

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