Ming JE - Search Results

1

Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.

Huang J, Hoffman JD, Zhang Y, Maisenbacher MK, Zackai EH, Weber BL, Ming JE. Huang J, et al. Among authors: ming je. Clin Genet. 2006 Apr;69(4):367-9. doi: 10.1111/j.1399-0004.2006.00598.x. Clin Genet. 2006. PMID: 16630174 No abstract available.

2

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE. Hoffman JD, et al. Among authors: ming je. J Med Genet. 2005 Jan;42(1):49-53. doi: 10.1136/jmg.2004.024372. J Med Genet. 2005. PMID: 15635075 Free PMC article.

3

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH. Ming JE, et al. Hum Mutat. 2006 May;27(5):467-73. doi: 10.1002/humu.20322. Hum Mutat. 2006. PMID: 16619270

4

Immune abnormalities are a frequent manifestation of Kabuki syndrome.

Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Hoffman JD, et al. Among authors: ming je. Am J Med Genet A. 2005 Jun 15;135(3):278-81. doi: 10.1002/ajmg.a.30722. Am J Med Genet A. 2005. PMID: 15887282 Review.

5

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH. Ming JE, et al. Am J Med Genet. 2000 May 1;92(1):19-24. doi: 10.1002/(sici)1096-8628(20000501)92:1<19::aid-ajmg4>3.0.co;2-#. Am J Med Genet. 2000. PMID: 10797418

6

Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia".

Haldeman-Englert CR, Biser A, Zackai EH, Ming JE. Haldeman-Englert CR, et al. Among authors: ming je. J Craniofac Surg. 2012 Mar;23(2):e149-51. doi: 10.1097/SCS.0b013e31824cdcdd. J Craniofac Surg. 2012. PMID: 22446453

7

Autoimmune disorders in Kabuki syndrome.

Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332. Am J Med Genet A. 2005. PMID: 15523604

8

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. Ciprero KL, et al. Among authors: ming je. Am J Med Genet A. 2005 Jan 30;132A(3):273-5. doi: 10.1002/ajmg.a.30387. Am J Med Genet A. 2005. PMID: 15523623

9

A 223-kb de novo deletion of PAX9 in a patient with oligodontia.

Haldeman-Englert CR, Biser A, Zackai EH, Ming JE. Haldeman-Englert CR, et al. Among authors: ming je. J Craniofac Surg. 2010 May;21(3):837-9. doi: 10.1097/SCS.0b013e3181d87912. J Craniofac Surg. 2010. PMID: 20485064

10

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Am J Med Genet A. 2003 Dec 15;123A(3):249-52. doi: 10.1002/ajmg.a.20277. Am J Med Genet A. 2003. PMID: 14608645 Review.

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