Huizing M - Search Results

1

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V. Leoyklang P, et al. Among authors: huizing m. Hum Genet. 2013 Dec;132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8. Hum Genet. 2013. PMID: 23925499 Free PMC article.

2

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Anikster Y, et al. Among authors: huizing m. Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790. Mol Genet Metab. 1999. PMID: 10068513

3

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Ferreira H, Seppala R, Pinto R, Huizing M, Martins E, Braga AC, Gomes L, Krasnewich DM, Sa Miranda MC, Gahl WA. Ferreira H, et al. Among authors: huizing m. Mol Genet Metab. 1999 Jun;67(2):131-7. doi: 10.1006/mgme.1999.2852. Mol Genet Metab. 1999. PMID: 10356312

4

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Hum Genet. 2000 Mar;106(3):370-3. doi: 10.1007/s004390051053. Hum Genet. 2000. PMID: 10798370

5

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.

6

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Leroy JG, et al. Among authors: huizing m. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18. Am J Hum Genet. 2001. PMID: 11326336 Free PMC article.

7

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: huizing m. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

8

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Thromb Haemost. 2001 Jul;86(1):233-45. Thromb Haemost. 2001. PMID: 11487012 Review.

9

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. Phornphutkul C, et al. Among authors: huizing m. Am J Hum Genet. 2001 Oct;69(4):712-21. doi: 10.1086/323484. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505338 Free PMC article.

10

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Huizing M, et al. Am J Hum Genet. 2001 Nov;69(5):1022-32. doi: 10.1086/324168. Epub 2001 Oct 3. Am J Hum Genet. 2001. PMID: 11590544 Free PMC article.

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