Concepedia

Kelly A. Przylepa

KA

Statistics

Publications

6

Citations

969

H-Index

6

Active since

1995

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

Cedars-Sinai Medical Center

New York University

University of California, Los Angeles

Kelly A. Przylepa is an author at Johns Hopkins University specializing in molecular genetics, genetics, and fibroblast growth factor receptor 3 (fgfr3) disorders.

Publications per year

1995–2000

6

Publications

6

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

Gregory A. Meyers, Seth J. Orlow, Ian R. Munro et al. · Nature Genetics · 1995 · 393 citations

, , +11

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

Kelly A. Przylepa, William A. Paznekas, Minghuang Zhang et al. · Nature Genetics · 1996 · 190 citations

, , +11

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.

Gregory A. Meyers, David A. Day, Rosalie Goldberg et al. · PubMed · 1996 · 170 citations

, , +13

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

Gary A. Bellus, Michael J. Bamshad, Kelly A. Przylepa et al. · American Journal of Medical Genetics · 1999 · 117 citations

, , +17

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

Daniela N. Schweitzer, John M. Graham, Ralph S. Lachman et al. · American Journal of Medical Genetics · 2000 · 57 citations

, , +17

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