Huizing M - Search Results

1

Atypical presentation of GNE myopathy with asymmetric hand weakness.

de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N. de Dios JK, et al. Among authors: huizing m. Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7. Neuromuscul Disord. 2014. PMID: 25182749 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

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Anikster Y, et al. Among authors: huizing m. Pediatr Res. 2000 Jan;47(1):17-23. doi: 10.1203/00006450-200001000-00007. Pediatr Res. 2000. PMID: 10625078

4

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Brantly M, et al. Among authors: huizing m. Chest. 2000 Jan;117(1):129-36. doi: 10.1378/chest.117.1.129. Chest. 2000. PMID: 10631210

5

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

6

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.

7

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H. Huizing M, et al. Gene. 2001 Feb 21;264(2):241-7. doi: 10.1016/s0378-1119(01)00333-x. Gene. 2001. PMID: 11250079

8

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.

Huizing M, Sarangarajan R, Strovel E, Zhao Y, Gahl WA, Boissy RE. Huizing M, et al. Mol Biol Cell. 2001 Jul;12(7):2075-85. doi: 10.1091/mbc.12.7.2075. Mol Biol Cell. 2001. PMID: 11452004 Free PMC article.

9

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

10

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.

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