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Items: 1 to 20 of 21

1.

Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases.

Gefen A, Cohen R, Birk OS.

Hum Mutat. 2010 Mar;31(3):229-36. doi: 10.1002/humu.21171.

PMID:
20052752
2.

Sweat test in patients with glucose-6-phosphate-1-dehydrogenase deficiency.

Casaulta C, Stirnimann A, Schoeni MH, Barben J.

Arch Dis Child. 2008 Oct;93(10):878-9. doi: 10.1136/adc.2007.132688. Epub 2008 May 2.

PMID:
18456694
3.

Nasal potential difference in non-classic cystic fibrosis-long term follow up.

Jaron R, Yaakov Y, Rivlin J, Blau H, Bentur L, Yahav Y, Kerem E, Bibi H, Picard E, Wilschanski M.

Pediatr Pulmonol. 2008 Jun;43(6):545-9. doi: 10.1002/ppul.20807.

PMID:
18433042
4.

Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas.

Haapasalo J, Hilvo M, Nordfors K, Haapasalo H, Parkkila S, Hyrskyluoto A, Rantala I, Waheed A, Sly WS, Pastorekova S, Pastorek J, Parkkila AK.

Neuro Oncol. 2008 Apr;10(2):131-8. doi: 10.1215/15228517-2007-065. Epub 2008 Mar 5.

5.

Carbonic anhydrases: novel therapeutic applications for inhibitors and activators.

Supuran CT.

Nat Rev Drug Discov. 2008 Feb;7(2):168-81. doi: 10.1038/nrd2467. Review.

PMID:
18167490
6.

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.

Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS.

Am J Hum Genet. 2007 Sep;81(3):589-95. Epub 2007 Jul 24.

7.

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS.

Am J Hum Genet. 2007 Sep;81(3):530-9. Epub 2007 Jul 24.

8.

Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines.

LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ Jr; Cystic Fibrosis Foundation.

J Pediatr. 2007 Jul;151(1):85-9. No abstract available.

PMID:
17586196
9.

Topiramate reduced sweat secretion and aquaporin-5 expression in sweat glands of mice.

Ma L, Huang YG, Deng YC, Tian JY, Rao ZR, Che HL, Zhang HF, Zhao G.

Life Sci. 2007 Jun 6;80(26):2461-8. Epub 2007 Apr 29.

PMID:
17521680
10.

Carbonic anhydrase inhibitors. Inhibition of transmembrane isozymes XII (cancer-associated) and XIV with anions.

Innocenti A, Vullo D, Pastorek J, Scozzafava A, Pastorekova S, Nishimori I, Supuran CT.

Bioorg Med Chem Lett. 2007 Mar 15;17(6):1532-7. Epub 2007 Jan 13.

PMID:
17257840
11.

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS.

Am J Hum Genet. 2006 Nov;79(5):942-8. Epub 2006 Sep 19.

12.

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.

Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS.

Nat Genet. 2006 Jul;38(7):749-51. Epub 2006 Jun 4.

PMID:
16751772
13.

Expression of carbonic anhydrases IX and XII during mouse embryonic development.

Kallio H, Pastorekova S, Pastorek J, Waheed A, Sly WS, Mannisto S, Heikinheimo M, Parkkila S.

BMC Dev Biol. 2006 May 23;6:22.

14.

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers.

Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, Geiger D.

Am J Hum Genet. 2006 Jun;78(6):922-35. Epub 2006 May 1.

15.

Carbonic anhydrase inhibitors. Inhibition of the transmembrane isozyme XII with sulfonamides-a new target for the design of antitumor and antiglaucoma drugs?

Vullo D, Innocenti A, Nishimori I, Pastorek J, Scozzafava A, Pastoreková S, Supuran CT.

Bioorg Med Chem Lett. 2005 Feb 15;15(4):963-9.

PMID:
15686894
16.

The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond.

Schnetkamp PP.

Pflugers Arch. 2004 Feb;447(5):683-8. Epub 2003 May 6. Review.

PMID:
14770312
17.

Oligohydrosis and hyperthermia: pilot study of a novel topiramate adverse effect.

Ben-Zeev B, Watemberg N, Augarten A, Brand N, Yahav Y, Efrati O, Topper L, Blatt I.

J Child Neurol. 2003 Apr;18(4):254-7.

PMID:
12760427
18.

Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma.

Liao SY, Ivanov S, Ivanova A, Ghosh S, Cote MA, Keefe K, Coca-Prados M, Stanbridge EJ, Lerman MI.

J Med Genet. 2003 Apr;40(4):257-61.

19.

Carbonic anhydrase inhibitors.

Supuran CT, Scozzafava A, Casini A.

Med Res Rev. 2003 Mar;23(2):146-89. Review.

PMID:
12500287
20.

Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers.

Türeci O, Sahin U, Vollmar E, Siemer S, Göttert E, Seitz G, Parkkila AK, Shah GN, Grubb JH, Pfreundschuh M, Sly WS.

Proc Natl Acad Sci U S A. 1998 Jun 23;95(13):7608-13.

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