Shotelersuk V - Search Results

1

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G. Yeetong P, et al. Among authors: shotelersuk v. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247

2

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Gahl WA, et al. Among authors: shotelersuk v. N Engl J Med. 1998 Apr 30;338(18):1258-64. doi: 10.1056/NEJM199804303381803. N Engl J Med. 1998. PMID: 9562579 Free article.

3

Hermansky-Pudlak syndrome: models for intracellular vesicle formation.

Shotelersuk V, Gahl WA. Shotelersuk V, et al. Mol Genet Metab. 1998 Oct;65(2):85-96. doi: 10.1006/mgme.1998.2729. Mol Genet Metab. 1998. PMID: 9787100 Review.

4

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Dell'Angelica EC, et al. Among authors: shotelersuk v. Mol Cell. 1999 Jan;3(1):11-21. doi: 10.1016/s1097-2765(00)80170-7. Mol Cell. 1999. PMID: 10024875 Free article.

5

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: shotelersuk v. Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790. Mol Genet Metab. 1999. PMID: 10068513

6

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA. Anikster Y, et al. Among authors: shotelersuk v. Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1999. PMID: 10571941 Review.

7

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: shotelersuk v. Chest. 2000 Jan;117(1):129-36. doi: 10.1378/chest.117.1.129. Chest. 2000. PMID: 10631210

8

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.

Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. Shotelersuk V, et al. Am J Med. 2000 Apr 1;108(5):423-7. doi: 10.1016/s0002-9343(99)00436-2. Am J Med. 2000. PMID: 10759101 No abstract available.

9

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: shotelersuk v. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862

10

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S. Shotelersuk V, et al. J Craniofac Surg. 2003 Jan;14(1):101-4; discussion 105-7. doi: 10.1097/00001665-200301000-00019. J Craniofac Surg. 2003. PMID: 12544231

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