Martin DM - Search Results

1

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

van Ravenswaaij-Arts C, Martin DM. van Ravenswaaij-Arts C, et al. Among authors: martin dm. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):397-406. doi: 10.1002/ajmg.c.31592. Epub 2017 Nov 24. Am J Med Genet C Semin Med Genet. 2017. PMID: 29171162 Free PMC article. Review.

2

Systemic lupus erythematosus in a man with Noonan syndrome.

Martin DM, Gencyuz CF, Petty EM. Martin DM, et al. Am J Med Genet. 2001 Jul 22;102(1):59-62. doi: 10.1002/1096-8628(20010722)102:1<59::aid-ajmg1351>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11471173 Free article.

3

Exclusion of PITX2 mutations as a major cause of CHARGE association.

Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Martin DM, et al. Am J Med Genet. 2002 Jul 22;111(1):27-30. doi: 10.1002/ajmg.10473. Am J Med Genet. 2002. PMID: 12124729 Free article.

4

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Zentner GE, Layman WS, Martin DM, Scacheri PC. Zentner GE, et al. Among authors: martin dm. Am J Med Genet A. 2010 Mar;152A(3):674-86. doi: 10.1002/ajmg.a.33323. Am J Med Genet A. 2010. PMID: 20186815 Free PMC article. Review.

5

Chromodomain proteins in development: lessons from CHARGE syndrome.

Layman WS, Hurd EA, Martin DM. Layman WS, et al. Among authors: martin dm. Clin Genet. 2010 Jul;78(1):11-20. doi: 10.1111/j.1399-0004.2010.01446.x. Epub 2010 Apr 8. Clin Genet. 2010. PMID: 20507341 Free PMC article. Review.

6

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.

Layman WS, Hurd EA, Martin DM. Layman WS, et al. Among authors: martin dm. Hum Mol Genet. 2011 Aug 15;20(16):3138-50. doi: 10.1093/hmg/ddr216. Epub 2011 May 19. Hum Mol Genet. 2011. PMID: 21596839 Free PMC article.

7

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.

Seeley AH, Durham MA, Micale MA, Wesolowski J, Foerster BR, Martin DM. Seeley AH, et al. Among authors: martin dm. Am J Med Genet A. 2014 Aug;164A(8):2062-8. doi: 10.1002/ajmg.a.36569. Epub 2014 Apr 9. Am J Med Genet A. 2014. PMID: 24719385 Free PMC article.

8

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.

Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM. Sperry ED, et al. Among authors: martin dm. Dev Dyn. 2014 Sep;243(9):1055-66. doi: 10.1002/dvdy.24156. Epub 2014 Jul 10. Dev Dyn. 2014. PMID: 24975120 Free PMC article.

9

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.

Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM. Green GE, et al. Among authors: martin dm. Otol Neurotol. 2014 Sep;35(8):1466-70. doi: 10.1097/MAO.0000000000000260. Otol Neurotol. 2014. PMID: 24979395 Free PMC article.

10

Inappropriate p53 activation during development induces features of CHARGE syndrome.

Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD. Van Nostrand JL, et al. Among authors: martin dm. Nature. 2014 Oct 9;514(7521):228-32. doi: 10.1038/nature13585. Epub 2014 Aug 3. Nature. 2014. PMID: 25119037 Free PMC article.

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