Przylepa KA - Search Results

1

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Schweitzer DN, et al. Among authors: przylepa ka. Am J Med Genet. 2001 Jan 1;98(1):75-91. Am J Med Genet. 2001. PMID: 11426459

2

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Meyers GA, et al. Among authors: przylepa ka. Nat Genet. 1995 Dec;11(4):462-4. doi: 10.1038/ng1295-462. Nat Genet. 1995. PMID: 7493034

3

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.

Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Bellus GA, et al. Among authors: przylepa ka. Am J Med Genet. 1999 Jul 2;85(1):53-65. Am J Med Genet. 1999. PMID: 10377013

4

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. Meyers GA, et al. Among authors: przylepa ka. Am J Hum Genet. 1996 Mar;58(3):491-8. Am J Hum Genet. 1996. PMID: 8644708 Free PMC article.

5

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Przylepa KA, et al. Nat Genet. 1996 Aug;13(4):492-4. doi: 10.1038/ng0896-492. Nat Genet. 1996. PMID: 8696350

6

Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.

Filkins K, Russo JF, Boehmer S, Camous M, Przylepa KA, Jiang W, Jabs EW. Filkins K, et al. Among authors: przylepa ka. Prenat Diagn. 1997 Nov;17(11):1081-4. doi: 10.1002/(sici)1097-0223(199711)17:11<1081::aid-pd198>3.0.co;2-2. Prenat Diagn. 1997. PMID: 9399359

7

Chromosome breaks and fragile sites in leukemic bone marrow cells.

Przylepa KA, Wenger SL. Przylepa KA, et al. Cancer Genet Cytogenet. 1988 Jul 1;33(1):35-8. doi: 10.1016/0165-4608(88)90047-7. Cancer Genet Cytogenet. 1988. PMID: 2968151

8

Fragile sites in leukemic bone marrow cells.

Przylepa KA, Wenger SL. Przylepa KA, et al. Cancer Genet Cytogenet. 1988 Mar;31(1):145-6. Cancer Genet Cytogenet. 1988. PMID: 3345503 No abstract available.

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