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Abnormal development of NG2<sup>+</sup>PDGFR-?<sup>+</sup> neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.
Published in:
Nature Medicine, 2012, v. 18, n. 12, p. 1797, doi. 10.1038/nm.2996
By:
- Carter, Calvin S;
- Vogel, Timothy W;
- Zhang, Qihong;
- Seo, Seongjin;
- Swiderski, Ruth E;
- Moninger, Thomas O;
- Cassell, Martin D;
- Thedens, Daniel R;
- Keppler-Noreuil, Kim M;
- Nopoulos, Peggy;
- Nishimura, Darryl Y;
- Searby, Charles C;
- Bugge, Kevin;
- Sheffield, Val C
Publication type:
Article
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Published in:
Nature Genetics, 1999, v. 22, n. 2, p. 199, doi. 10.1038/9722
By:
- Stone, Edwin M.;
- Lotery, Andrew J.;
- Munier, Francis L.;
- Héon, Elise;
- Piguet, Bertrand;
- Guymer, Robyn H.;
- Vandenburgh, Kimberlie;
- Cousin, Pascal;
- Nishimura, Darryl;
- Swiderski, Ruth E.;
- Silvestri, Giuliana;
- Mackey, David A.;
- Hageman, Gregory S.;
- Bird, Alan C.;
- Sheffield, Val C.;
- Schorderet, Daniel F.
Publication type:
Article
Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects.
Published in:
Developmental Dynamics, 1999, v. 216, n. 1, p. 16, doi. 10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1
By:
- Swiderski, Ruth E.;
- Reiter, Rebecca S.;
- Nishimura, Darryl Y.;
- Alward, Wallace L.M.;
- Kalenak, Jeffrey W.;
- Searby, Charles S.;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Lin, Jim Jung-Ching
Publication type:
Article
Type II collagen is transiently expressed during avian cardiac valve morphogenesis.
Published in:
Developmental Dynamics, 1994, v. 200, n. 4, p. 294, doi. 10.1002/aja.1002000404
By:
- Swiderski, Ruth E.;
- Daniels, Karla J.;
- Jensen, Karen L.;
- Solursh, Michael
Publication type:
Article
Localization of type II collagen, long form α1(IX) collagen, and short form α1(IX) collagen transcripts in the developing chick notochord and axial skeleton.
Published in:
Developmental Dynamics, 1992, v. 194, n. 2, p. 118, doi. 10.1002/aja.1001940205
By:
- Swiderski, Ruth E.;
- Solursh, Michael
Publication type:
Article
A Mutation in the Mouse Ttc26 Gene Leads to Impaired Hedgehog Signaling.
Published in:
PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004689
By:
- Swiderski, Ruth E.;
- Nakano, Yoko;
- Mullins, Robert F.;
- Seo, Seongjin;
- Bánfi, Botond
Publication type:
Article
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2).
Published in:
Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
By:
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Carmi, Rivka;
- Elbedour, Khalil;
- Maldergem, Lionel Van;
- Fulton, Anne B.;
- Lam, Byron L.;
- Powell, Berkley R.;
- Swiderski, Ruth E.;
- Bugge, Kevin E.;
- Haider, Neena B.;
- Kwitek-Black, Anne E.;
- Ying, Lihua;
- Duhl, David M.;
- Gorman, Susan W.;
- Heon, Elise;
- Iannaccone, Alessandro;
- Bonneau, Dominique;
- Biesecker, Leslie G.;
- Jacobson, Samuel G.
Publication type:
Article
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Published in:
Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
By:
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Carmi, Rivka;
- Elbedour, Khalil;
- Maldergem, Lionel Van;
- Fulton, Anne B.;
- Lam, Byron L.;
- Powell, Berkley R.;
- Swiderski, Ruth E.;
- Bugge, Kevin E.;
- Haider, Neena B.;
- Kwitek-Black, Anne E.;
- Ying, Lihua;
- Duhl, David M.;
- Gorman, Susan W.;
- Heon, Elise;
- Iannaccone, Alessandro;
- Bonneau, Dominique;
- Biesecker, Leslie G.;
- Jacobson, Samuel G.
Publication type:
Article
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Published in:
Nature Genetics, 1998, v. 19, n. 2, p. 140, doi. 10.1038/493
By:
- Nishimura, Darryl Y.;
- Swiderski, Ruth E.;
- Alward, Wallace L. M.;
- Searby, Charles C.;
- Patil, Shivanand R.;
- Bennet, Steven R.;
- Kanis, Adam B.;
- Gastier, Julie M.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article

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