Gripp KW - Search Results

1

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918763 Free PMC article.

2

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

Gripp KW, Donnai D, Clericuzio CL, McDonald-McGinn DM, Guttenberg M, Zackai EH. Gripp KW, et al. Am J Med Genet. 1997 Feb 11;68(4):441-4. doi: 10.1002/(sici)1096-8628(19970211)68:4<441::aid-ajmg13>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9021018

3

Nasal dimple as part of the 22q11.2 deletion syndrome.

Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Gripp KW, et al. Am J Med Genet. 1997 Mar 31;69(3):290-2. Am J Med Genet. 1997. PMID: 9096759

4

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.

5

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M. Gripp KW, et al. J Pediatr. 1998 Apr;132(4):714-6. doi: 10.1016/s0022-3476(98)70366-x. J Pediatr. 1998. PMID: 9580776

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

Imaging studies in a unique familial dysmyelinating disorder.

Gripp KW, Zimmerman RA, Wang ZJ, Rorke LB, Duhaime AC, Schut L, Molloy PT, Tucker SH, Zackai EH, Muenke M. Gripp KW, et al. AJNR Am J Neuroradiol. 1998 Aug;19(7):1368-72. AJNR Am J Neuroradiol. 1998. PMID: 9726484 Free PMC article.

8

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

9

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

10

Not Antley-Bixler syndrome.

Gripp KW, Zackai EH, Cohen MM Jr. Gripp KW, et al. Am J Med Genet. 1999 Mar 5;83(1):65-8. Am J Med Genet. 1999. PMID: 10076887 Review. No abstract available.

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