Ozand P - Search Results

1

Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.

Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Among authors: ozand p. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991327 No abstract available.

2

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A. Georgiou T, et al. Among authors: ozand p. Hum Mutat. 2004 Oct;24(4):352. doi: 10.1002/humu.9279. Hum Mutat. 2004. PMID: 15365997

3

Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.

Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Among authors: ozand p. Hum Genet. 2005 May;116(6):534. Hum Genet. 2005. PMID: 15988828 No abstract available.

4

Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.

Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Among authors: ozand p. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991326 No abstract available.

5

Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

Takiguchi K, Itoh K, Shimmoto M, Ozand PT, Doi H, Sakuraba H. Takiguchi K, et al. Among authors: ozand pt. J Hum Genet. 2000;45(4):200-6. doi: 10.1007/s100380070027. J Hum Genet. 2000. PMID: 10944848

6

Novel mutation in GLRB in a large family with hereditary hyperekplexia.

Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. Al-Owain M, et al. Among authors: ozand pt. Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21391991

7

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

Kaya N, Al-Owain M, Abudheim N, Al-Zahrani J, Colak D, Al-Sayed M, Milanlioglu A, Ozand PT, Alkuraya FS. Kaya N, et al. Among authors: ozand pt. Am J Med Genet A. 2011 Jun;155A(6):1281-4. doi: 10.1002/ajmg.a.33932. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567908

8

Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K. Schepers U, et al. Among authors: ozand p. Am J Hum Genet. 1996 Nov;59(5):1048-56. Am J Hum Genet. 1996. PMID: 8900233 Free PMC article.

9

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF. Kaya N, et al. Among authors: ozand p. Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097/gim.0b013e31818337a8. Genet Med. 2008. PMID: 18978679 Free article.

10

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Zeng WQ, et al. Am J Hum Genet. 2005 Jul;77(1):16-26. doi: 10.1086/431216. Epub 2005 May 3. Am J Hum Genet. 2005. PMID: 15871139 Free PMC article.

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