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Results: 1 to 20 of 103

Similar articles for PubMed (Select 22019069)

1.

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.

Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N.

Mol Genet Metab. 2011 Dec;104(4):706-7. doi: 10.1016/j.ymgme.2011.09.031. Epub 2011 Oct 1. No abstract available.

PMID:
22019069
2.

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.

Caliebe A, Vater I, Plendl H, Gesk S, Siebert R, Cremer FW, Klein-Hitpass L.

Mol Genet Metab. 2010 Feb;99(2):184-5. doi: 10.1016/j.ymgme.2009.10.011. Epub 2009 Oct 20. No abstract available.

PMID:
19932039
3.

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Rady PL, Penzien JM, Vargas T, Tyring SK, Matalon R.

Eur J Paediatr Neurol. 2000;4(1):27-30.

PMID:
10701101
4.

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Kaul R, Gao GP, Balamurugan K, Matalon R.

Nat Genet. 1993 Oct;5(2):118-23.

PMID:
8252036
5.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.

Am J Hum Genet. 1996 Jul;59(1):95-102.

6.
7.

A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.

Propheta O, Magal N, Shohat M, Eyal N, Navot N, Horowitz M.

Eur J Hum Genet. 1998 Nov-Dec;6(6):635-7.

8.

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.

Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5.

PMID:
22219087
9.

Canavan disease: diagnosis and molecular analysis.

Matalon R.

Genet Test. 1997;1(1):21-5. Review.

PMID:
10464621
10.

Novel missense mutation (Y231C) in a turkish patient with canavan disease.

Rady PL, Vargas T, Tyring SK, Matalon R, Langenbeck U.

Am J Med Genet. 1999 Nov 26;87(3):273-5. No abstract available.

PMID:
10564886
11.

Molecular basis of Canavan disease.

Matalon R, Michals-Matalon K.

Eur J Paediatr Neurol. 1998;2(2):69-76. Review. No abstract available.

PMID:
10724099
12.

Canavan disease: a novel mutation.

Schober H, Luetschg J, Hoeliner I, Kalb S, Simma B.

Pediatr Neurol. 2011 Oct;45(4):256-8. doi: 10.1016/j.pediatrneurol.2011.06.011.

PMID:
21907889
13.

Biochemistry and molecular biology of Canavan disease.

Matalon R, Michals-Matalon K.

Neurochem Res. 1999 Apr;24(4):507-13. Review.

PMID:
10227683
14.

Missense mutation (I143T) in a Japanese patient with Canavan disease.

Kobayashi K, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N.

Hum Mutat. 1998;Suppl 1:S308-9. No abstract available.

PMID:
9452117
15.

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

Durmaz AA, Akin H, Onay H, Vahabi A, Ozkinay F.

Fetal Pediatr Pathol. 2012 Aug;31(4):236-9. doi: 10.3109/15513815.2011.650292. Epub 2012 Apr 2.

PMID:
22468686
16.

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

Olsen TR, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, Møller C, Nilssen O.

J Med Genet. 2002 Sep;39(9):e55. No abstract available.

17.

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A.

Am J Hum Genet. 1994 Aug;55(2):287-8.

18.

Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Unalp A, Altiok E, Uran N, Oztürk A, Yüksel S.

J Trop Pediatr. 2008 Jun;54(3):208-10. Epub 2007 Nov 12.

PMID:
17999961
19.

Prenatal diagnosis of Canavan disease.

Matalon R, Michals-Matalon K.

Prenat Diagn. 1999 Jul;19(7):669-70. Review. No abstract available.

PMID:
10419617
20.

Prenatal diagnosis for Canavan disease: the use of DNA markers.

Matalon R, Kaul R, Gao GP, Michals K, Gray RG, Bennett-Briton S, Norman A, Smith M, Jakobs C.

J Inherit Metab Dis. 1995;18(2):215-7. No abstract available.

PMID:
7564250
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