Ming JE - Search Results

1

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

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

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.

4

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

5

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Srivastava K, Hu P, Solomon BD, Ming JE, Roessler E, Muenke M. Srivastava K, et al. Among authors: ming je. Mol Genet Metab. 2012 Jun;106(2):241-3. doi: 10.1016/j.ymgme.2012.03.008. Epub 2012 Mar 21. Mol Genet Metab. 2012. PMID: 22503063 Free PMC article.

6

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

7

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.

8

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.

9

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

10

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M. Roessler E, et al. Among authors: ming je. Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. doi: 10.1073/pnas.2235734100. Epub 2003 Oct 27. Proc Natl Acad Sci U S A. 2003. PMID: 14581620 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

61 results

Search Page