Ming JE - Search Results

1

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

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

Skeletal anomalies and deformities in patients with deletions of 22q11.

Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Ming JE, et al. Am J Med Genet. 1997 Oct 17;72(2):210-5. doi: 10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9382145

4

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

Ming JE, McDonald-McGinn DM, Markowitz RI, Ruchelli E, Zackai EH. Ming JE, et al. Am J Med Genet. 1997 Dec 31;73(4):419-24. doi: 10.1002/(sici)1096-8628(19971231)73:4<419::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9415469 Review.

5

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.

6

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

7

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.

8

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.

Gecz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, Zackai EH, Sutherland GR, Mulley JC. Gecz J, et al. Among authors: ming je. Hum Genet. 1999 Jan;104(1):56-63. doi: 10.1007/s004390050910. Hum Genet. 1999. PMID: 10071193

9

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: ming je. Genet Couns. 1999;10(1):11-24. Genet Couns. 1999. PMID: 10191425

10

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.

McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: ming je. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633

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