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Results: 1 to 20 of 92

Similar articles for PubMed (Select 11767878)

1.

Case of Alström syndrome with late presentation dilated cardiomyopathy.

Worthley MI, Zeitz CJ.

Intern Med J. 2001 Dec;31(9):569-70. No abstract available.

PMID:
11767878
2.

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
3.

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.

Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P.

Am J Med Genet A. 2005 May 15;135(1):96-8.

PMID:
15809999
4.

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
5.

Chromosome 21 abnormalities: a review and report of a case of Erondu-Cymet syndrome.

Erondu UA, Cymet TC.

Compr Ther. 2006 Winter;32(4):254-60.

PMID:
17898432
6.

A rare case of Alström syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography.

Makaryus AN, Popowski B, Kort S, Paris Y, Mangion J.

J Am Soc Echocardiogr. 2003 Feb;16(2):194-6.

PMID:
12574750
7.

Cardiomyopathy in a child with neutropenia and motor delay.

McCanta AC, Chang AC, Weiner K.

Curr Opin Pediatr. 2008 Oct;20(5):605-7. doi: 10.1097/MOP.0b013e32830a990a.

PMID:
18781126
8.

Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT.

Am J Med Genet A. 2008 Jun 15;146A(12):1571-4. doi: 10.1002/ajmg.a.32096.

PMID:
18470891
9.

A rare cause of dilated cardiomyopathy; Alström syndrome.

Unlü C, Ustün I, Akay F, Doğan U.

Anadolu Kardiyol Derg. 2008 Aug;8(4):316-7. No abstract available.

10.

[Onset of bilateral blindness in the first year of life. Alström syndrome].

Sadowski B, Baumeister FA, Schmitz T, Rudolph G.

Ophthalmologe. 2004 Mar;101(3):298-300. German. No abstract available.

PMID:
15004717
11.

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR.

Eur J Med Genet. 2005 Jul-Sep;48(3):276-89.

PMID:
16179223
12.

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.

Kocks A, Endele S, Heller R, Schröder B, Schäfer HJ, Städtler C, Makrigeorgi-Butera M, Winterpacht A.

J Med Genet. 2002 May;39(5):E23. No abstract available.

13.

[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications].

Mendioroz J, Bermejo E, Marshall JD, Naggert JK, Collin GB, Martínez-Frías ML.

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

PMID:
19091203
14.

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM.

Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566.

PMID:
19006206
15.

Alström syndrome.

Marshall JD, Beck S, Maffei P, Naggert JK.

Eur J Hum Genet. 2007 Dec;15(12):1193-202. Epub 2007 Oct 17.

16.

A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH.

Lim AS, Lim TH, Chia P, Raman S, Pickering DL, Zaleski DH, Sanger WG, Tien SL.

Prenat Diagn. 2004 Nov;24(11):931-2. No abstract available.

PMID:
15565593
17.

Smith-Magenis syndrome.

Prasad C.

CMAJ. 2003 Sep 16;169(6):543, 545; author reply 545. No abstract available.

18.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP.

J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31.

19.

Three new cases of Alström syndrome.

Benso C, Hadjadj E, Conrath J, Denis D.

Graefes Arch Clin Exp Ophthalmol. 2002 Aug;240(8):622-7. Epub 2002 Jul 20.

PMID:
12192455
20.

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity.

Deeble VJ, Roberts E, Jackson A, Lench N, Karbani G, Woods CG.

J Med Genet. 2000 Mar;37(3):219. No abstract available.

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