Concepedia

Rosa Isela Ortiz De Luna

RI

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Publications

8

Citations

1.6K

H-Index

8

Active since

1994

Affiliations

Johns Hopkins University(Current)

National Institutes of Health

National Human Genome Research Institute

Johns Hopkins Medicine

Hospital Infantil de México Federico Gómez

Rosa Isela Ortiz De Luna is an author at Johns Hopkins University specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

1994–1997

8

Publications

8

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 654 citations

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Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 482 citations

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

M R Johnson, M H Polymeropoulos, Hans L. Vos et al. · Genome Research · 1996 · 131 citations · Full text

, , +15

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Mihael H. Polymeropoulos, Susan Ide, Michael Wright et al. · Genomics · 1996 · 118 citations · Full text

Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

Clalr A. Francomano, Rosa Isela Ortiz De Luna, Timothy Hefferon et al. · Human Molecular Genetics · 1994 · 72 citations

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