Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 14

1.

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

Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK.

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

PMID:
17594715
2.

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

Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK.

J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Review. Erratum in: J Hum Genet. 2015 Jan;60(1):51.

PMID:
25296579
3.

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.

Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT.

J Med Life. 2008 Jul-Sep;1(3):254-61. Review.

PMID:
20108502
4.

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM.

Am J Med Genet. 1997 Dec 12;73(2):150-61. Review.

PMID:
9409865
5.

The Alström syndrome: is it a rare or unknown disease?

Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N.

Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8. Review.

PMID:
12532560
6.

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.

7.

Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature.

Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K, Matsuo N.

Am J Med Genet. 1997 Mar 3;69(1):13-6. Review.

PMID:
9066877
8.

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S.

Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. Review.

PMID:
12686304
9.

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O.

Pediatr Nephrol. 2007 Mar;22(3):326-32. Review.

PMID:
17061123
10.

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
11.

Pyruvate kinase deficiency: the genotype-phenotype association.

Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G.

Blood Rev. 2007 Jul;21(4):217-31. Review.

PMID:
17360088
12.

[Alström syndrome].

Kobayashi Y, Inoue T, Nakagawa K.

Ryoikibetsu Shokogun Shirizu. 1997;(17 Pt 2):489-91. Review. Japanese. No abstract available.

PMID:
9277973
13.

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M.

Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Review.

14.

Alström syndrome: current perspectives.

Álvarez-Satta M, Castro-Sánchez S, Valverde D.

Appl Clin Genet. 2015 Jul 21;8:171-9. doi: 10.2147/TACG.S56612. Review.

Items per page

Supplemental Content

Support Center