Gripp KW - Search Results

1

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2006 Oct 15;140(20):2163-9. doi: 10.1002/ajmg.a.31456. Am J Med Genet A. 2006. PMID: 16969868

2

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

Gripp KW, Nicholson L, Scott CI Jr. Gripp KW, et al. Am J Med Genet. 1996 Feb 2;61(4):382-6. doi: 10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8834052

3

Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome.

Gripp KW, Scott CI Jr, Nicholson L. Gripp KW, et al. Clin Dysmorphol. 1996 Oct;5(4):335-7. Clin Dysmorphol. 1996. PMID: 8905199

4

Extending the spectrum of distal arthrogryposis.

Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG. Gripp KW, et al. Am J Med Genet. 1996 Nov 11;65(4):286-90. doi: 10.1002/(SICI)1096-8628(19961111)65:4<286::AID-AJMG8>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8923937

5

Lateral meningocele syndrome: three new patients and review of the literature.

Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.

6

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH. Gripp KW, et al. Am J Med Genet. 1998 Jul 24;78(4):356-60. doi: 10.1002/(sici)1096-8628(19980724)78:4<356::aid-ajmg10>3.0.co;2-h. Am J Med Genet. 1998. PMID: 9714439

7

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. Gripp KW, et al. Am J Med Genet. 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 9934984

8

Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

Gripp KW, Barr M Jr, Anadiotis G, McDonald-McGinn DM, Zderic SA, Zackai EH. Gripp KW, et al. Am J Med Genet. 1999 Feb 19;82(5):363-7. Am J Med Genet. 1999. PMID: 10069704

9

Second case of bladder carcinoma in a patient with Costello syndrome.

Gripp KW, Scott CI Jr, Nicholson L, Figueroa TE. Gripp KW, et al. Am J Med Genet. 2000 Jan 31;90(3):256-9. doi: 10.1002/(sici)1096-8628(20000131)90:3<256::aid-ajmg16>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10678668 No abstract available.

10

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia.

Gripp KW, McDonald-McGinn DM, La Rossa D, McGain D, Federman N, Vlachos A, Glader BE, McKenzie SE, Lipton JM, Zackai EH. Gripp KW, et al. Am J Med Genet. 2001 Jul 1;101(3):268-74. doi: 10.1002/ajmg.1329. Am J Med Genet. 2001. PMID: 11424144

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