Stolle CA - Search Results

1

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. Among authors: stolle ca. 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

2

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. Among authors: stolle ca. 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

3

A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.

Zackai EH, Stolle CA. Zackai EH, et al. Among authors: stolle ca. Am J Hum Genet. 1998 Nov;63(5):1277-81. doi: 10.1086/302125. Am J Hum Genet. 1998. PMID: 9792855 Free PMC article. Review. No abstract available.

4

Mutations in the human TWIST gene.

Gripp KW, Zackai EH, Stolle CA. Gripp KW, et al. Among authors: stolle ca. Hum Mutat. 2000;15(2):150-5. doi: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10649491 Review.

5

Craniosynostosis: molecular testing-a necessity for counseling.

Zackai EH, Gripp KW, Stolle CA. Zackai EH, et al. Among authors: stolle ca. Am J Med Genet. 2000 May 15;92(2):157. doi: 10.1002/(sici)1096-8628(20000515)92:2<157::aid-ajmg16>3.0.co;2-8. Am J Med Genet. 2000. PMID: 10797444 No abstract available.

6

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.

Gripp KW, Kasparcova V, McDonald-McGinn DM, Bhatt S, Bartlett SP, Storm AL, Drumheller TC, Emanuel BS, Zackai EH, Stolle CA. Gripp KW, et al. Among authors: stolle ca. Genet Med. 2001 Mar-Apr;3(2):102-8. doi: 10.1097/00125817-200103000-00003. Genet Med. 2001. PMID: 11280946 Free article.

7

Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.

Zackai EH, McDonald-McGinn DM, Stolle C, Huff DS. Zackai EH, et al. Clin Dysmorphol. 2003 Jul;12(3):209. doi: 10.1097/01.mcd.0000080414.95344.ae. Clin Dysmorphol. 2003. PMID: 14564165

8

Craniosynostosis in Alagille syndrome.

Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Kamath BM, et al. Am J Med Genet. 2002 Oct 1;112(2):176-80. doi: 10.1002/ajmg.10608. Am J Med Genet. 2002. PMID: 12244552

9

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U. Mulliken JB, et al. Among authors: stolle ca. Plast Reconstr Surg. 2004 Jun;113(7):1899-909. doi: 10.1097/01.prs.0000122202.26792.bf. Plast Reconstr Surg. 2004. PMID: 15253176

10

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. Izumi K, et al. Among authors: stolle ca. Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225330

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