Ming JE - Search Results

1

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M. Ming JE, et al. Clin Genet. 1998 Mar;53(3):155-63. doi: 10.1111/j.1399-0004.1998.tb02666.x. Clin Genet. 1998. PMID: 9630065 Review.

2

Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.

Orioli IM, Vieira AR, Castilla EE, Ming JE, Muenke M. Orioli IM, et al. Among authors: ming je. Am J Med Genet. 2002 Feb 15;108(1):12-5. doi: 10.1002/ajmg.10204. Am J Med Genet. 2002. PMID: 11857543

3

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Ming JE, et al. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695-5. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941477

4

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Ming JE, Muenke M. Ming JE, et al. Am J Hum Genet. 2002 Nov;71(5):1017-32. doi: 10.1086/344412. Epub 2002 Oct 22. Am J Hum Genet. 2002. PMID: 12395298 Free PMC article. Review. No abstract available.

5

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE. Schell-Apacik C, et al. Among authors: ming je. Hum Genet. 2003 Jul;113(2):170-7. doi: 10.1007/s00439-003-0950-4. Epub 2003 Apr 23. Hum Genet. 2003. PMID: 12709790

6

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Hu T, Kruszka P, Martinez AF, Ming JE, Shabason EK, Raam MS, Shaikh TH, Pineda-Alvarez DE, Muenke M. Hu T, et al. Among authors: ming je. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):175-186. doi: 10.1002/ajmg.c.31622. Am J Med Genet C Semin Med Genet. 2018. PMID: 30182442 Free PMC article.

7

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.

8

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.

Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M. Orioli IM, et al. Among authors: ming je. Hum Genet. 2001 Jul;109(1):1-6. doi: 10.1007/s004390100537. Hum Genet. 2001. PMID: 11479728

9

Human developmental disorders and the Sonic hedgehog pathway.

Ming JE, Roessler E, Muenke M. Ming JE, et al. Mol Med Today. 1998 Aug;4(8):343-9. doi: 10.1016/s1357-4310(98)01299-4. Mol Med Today. 1998. PMID: 9755453 Review.

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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