Martin DM - Search Results

1

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome.

Probst FJ, Hedera P, Sclafani AM, Pomponi MG, Neri G, Tyson J, Douglas JA, Petty EM, Martin DM. Probst FJ, et al. Among authors: martin dm. Am J Med Genet A. 2004 Dec 1;131(2):209-12. doi: 10.1002/ajmg.a.30308. Am J Med Genet A. 2004. PMID: 15389700 No abstract available.

2

Characterisation and genetic mapping of a new X linked deafness syndrome.

Martin DM, Probst FJ, Camper SA, Petty EM. Martin DM, et al. J Med Genet. 2000 Nov;37(11):836-41. doi: 10.1136/jmg.37.11.836. J Med Genet. 2000. PMID: 11073537 Free PMC article.

3

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.

4

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.

5

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Brown DJ, et al. Among authors: martin dm. Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub 2002 Jun 27. Am J Hum Genet. 2002. PMID: 12089654 Free PMC article.

6

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA. Karolyi IJ, et al. Among authors: martin dm. Hum Mol Genet. 2003 Nov 1;12(21):2797-805. doi: 10.1093/hmg/ddg308. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966030

7

Characterization of a stapes ankylosis family with a NOG mutation.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Brown DJ, et al. Among authors: martin dm. Otol Neurotol. 2003 Mar;24(2):210-5. doi: 10.1097/00129492-200303000-00014. Otol Neurotol. 2003. PMID: 12621334

8

Nestin-Cre mediated deletion of Pitx2 in the mouse.

Sclafani AM, Skidmore JM, Ramaprakash H, Trumpp A, Gage PJ, Martin DM. Sclafani AM, et al. Among authors: martin dm. Genesis. 2006 Jul;44(7):336-44. doi: 10.1002/dvg.20220. Genesis. 2006. PMID: 16823861 Free article.

9

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.

Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA. Anderson DW, et al. Among authors: martin dm. Hum Mol Genet. 2000 Jul 22;9(12):1729-38. doi: 10.1093/hmg/9.12.1729. Hum Mol Genet. 2000. PMID: 10915760

10

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.

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