Pastores GM - Search Results

1

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.

Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ, Driscoll DJ, Feldt RH, Thibodeau SN. Olson TM, et al. Among authors: pastores gm. Hum Mol Genet. 1993 Jul;2(7):869-73. doi: 10.1093/hmg/2.7.869. Hum Mol Genet. 1993. PMID: 8364568

2

Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.

Pastores GM, Michels VV, Schaid DJ, Driscoll DJ, Feldt RH, Thibodeau SN. Pastores GM, et al. J Med Genet. 1992 Jan;29(1):56-7. doi: 10.1136/jmg.29.1.56. J Med Genet. 1992. PMID: 1552547 Free PMC article. No abstract available.

3

Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2.

Pastores GM, Michels VV, Jack CR Jr. Pastores GM, et al. Am J Med Genet. 1991 Dec 1;41(3):325-9. doi: 10.1002/ajmg.1320410313. Am J Med Genet. 1991. PMID: 1789288

4

Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.

Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, Bovenmyer DA. Pastores GM, et al. J Pediatr. 1990 Sep;117(3):403-8. doi: 10.1016/s0022-3476(05)81080-7. J Pediatr. 1990. PMID: 2391595

5

Dystrophin analysis in idiopathic dilated cardiomyopathy.

Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM, et al. Michels VV, et al. Among authors: pastores gm. J Med Genet. 1993 Nov;30(11):955-7. doi: 10.1136/jmg.30.11.955. J Med Genet. 1993. PMID: 8301653 Free PMC article.

6

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. Díaz A, et al. Among authors: pastores gm. Am J Hum Genet. 1999 Apr;64(4):1233-8. doi: 10.1086/302341. Am J Hum Genet. 1999. PMID: 10090913 Free PMC article. No abstract available.

7

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. Pastores GM, et al. Am J Med Genet. 1994 Apr 15;50(3):265-71. doi: 10.1002/ajmg.1320500310. Am J Med Genet. 1994. PMID: 8042671 Review.

8

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ. Charrow J, et al. J Pediatr. 2004 Jan;144(1):112-20. doi: 10.1016/j.jpeds.2003.10.067. J Pediatr. 2004. PMID: 14722528 Review. No abstract available.

9

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF. Clarke LA, et al. Among authors: pastores gm. Pediatrics. 2009 Jan;123(1):229-40. doi: 10.1542/peds.2007-3847. Pediatrics. 2009. PMID: 19117887 Clinical Trial.

10

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. Wraith JE, et al. Among authors: pastores gm. J Pediatr. 2004 May;144(5):581-8. doi: 10.1016/j.jpeds.2004.01.046. J Pediatr. 2004. PMID: 15126990 Clinical Trial.

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