Pierpont ME - Search Results

1

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Li L, et al. Among authors: pierpont me. Nat Genet. 1997 Jul;16(3):243-51. doi: 10.1038/ng0797-243. Nat Genet. 1997. PMID: 9207788

2

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Sanyanusin P, et al. Among authors: pierpont me. Nat Genet. 1995 Apr;9(4):358-64. doi: 10.1038/ng0495-358. Nat Genet. 1995. PMID: 7795640

3

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. Satoda M, et al. Among authors: pierpont me. Nat Genet. 2000 May;25(1):42-6. doi: 10.1038/75578. Nat Genet. 2000. PMID: 10802654

4

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR. Gibbons RJ, et al. Among authors: pierpont me. Nat Genet. 1997 Oct;17(2):146-8. doi: 10.1038/ng1097-146. Nat Genet. 1997. PMID: 9326931 No abstract available.

5

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: pierpont me. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296

6

Clinical phenotype associated with terminal 2q37 deletion.

Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont ME. Conrad B, et al. Among authors: pierpont me. Clin Genet. 1995 Sep;48(3):134-9. doi: 10.1111/j.1399-0004.1995.tb04073.x. Clin Genet. 1995. PMID: 8556820 Review.

7

Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe TA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Sanyanusin P, et al. Among authors: pierpont me. Nat Genet. 1996 May;13(1):129. doi: 10.1038/ng0596-129. Nat Genet. 1996. PMID: 8673093 No abstract available.

8

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Sheffield VC, et al. Among authors: pierpont me. Hum Mol Genet. 1997 Jan;6(1):117-21. doi: 10.1093/hmg/6.1.117. Hum Mol Genet. 1997. PMID: 9002679

9

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.

Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP. Weigel BJ, et al. Among authors: pierpont me. Am J Med Genet. 1998 May 26;77(4):285-8. doi: 10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9600737 Review.

10

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Zhao F, et al. Among authors: pierpont me. Am J Hum Genet. 2001 Oct;69(4):695-703. doi: 10.1086/323410. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505339 Free PMC article.

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