Ming JE - Search Results

1

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Russell KL, et al. Among authors: ming je. Am J Med Genet. 2001 Dec 15;104(4):267-76. doi: 10.1002/ajmg.10066. Am J Med Genet. 2001. PMID: 11754058 Free PMC article. Review.

2

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.

3

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

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

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M. Nanni L, et al. Among authors: ming je. Am J Med Genet. 2001 Jul 22;102(1):1-10. doi: 10.1002/1096-8628(20010722)102:1<1::aid-ajmg1336>3.0.co;2-u. Am J Med Genet. 2001. PMID: 11471164 Review.

6

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

7

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.

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

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.

10

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Nanni L, et al. Among authors: ming je. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296

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