Works by Zonana, Jonathan

Results: 13

HEPATOCELLULAR CARCINOMA IN ARTERIOHEPATIC DYSPLASIA.

Published in:

1993

By:

Keeffe, Ëmmet B.;
Pinson, C. W.;
Ragsdale, John;
Zonana, Jonathan

Publication type:

Case Study

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67

By:

Mullegama, Sureni V;
Rosenfeld, Jill A;
Orellana, Carmen;
van Bon, Bregje W M;
Halbach, Sara;
Repnikova, Elena A;
Brick, Lauren;
Li, Chumei;
Dupuis, Lucie;
Rosello, Monica;
Aradhya, Swaroop;
Stavropoulos, D James;
Manickam, Kandamurugu;
Mitchell, Elyse;
Hodge, Jennelle C;
Talkowski, Michael E;
Gusella, James F;
Keller, Kory;
Zonana, Jonathan;
Schwartz, Stuart

Publication type:

Article

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 372, doi. 10.1038/sj.ejhg.5200471

By:

Kibar, Zoha;
Dubé, Marie-Pierre;
Powell, Julie;
McCuaïg, Catherine;
Hayflick, Susan J;
Zonana, Jonathan;
Hovnanian, Alain;
Radhakrishna, Uppala;
Antonarakis, Stylianos E;
Benohanian, Antranik;
Sheeran, Amy D;
Stephan, Mark L;
Gosselin, Richard;
Kelsell, David P;
Christianson, Arnold L;
Fraser, F Clarke;
Der Kaloustian, Vazken M;
Rouleau, Guy A

Publication type:

Article

Mutations in GJB6 cause hidrotic ectodermal dysplasia.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 142, doi. 10.1038/79851

By:

Lamartine, Jérôme;
Munhoz Essenfelder, Guilherme;
Kibar, Zoha;
Lanneluc, Isabelle;
Callouet, Edwige;
Laoudj, Dalila;
Lemaître, Gilles;
Hand, Colette;
Hayflick, Susan J.;
Zonana, Jonathan;
Antonarakis, Stylianos;
Radhakrishna, Uppala;
Kelsell, David P.;
Christianson, Arnold L.;
Pitaval, Amandine;
Der Kaloustian, Vazken;
Fraser, Clarke;
Blanchet-Bardon, Claudine;
Rouleau, Guy A.

Publication type:

Article

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 366, doi. 10.1038/11937

By:

Monreal, Alex W.;
Ferguson, Betsy M.;
Headon, Denis J.;
Street, Summer L.;
Overbeek, Paul A.;
Zonana, Jonathan

Publication type:

Article

Cloning of Tabby, the Murine Homolog of the Human EDA Gene: Evidence for a Membrane-Associated Protein with a Short Collagenous Domain.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1589, doi. 10.1093/hmg/6.9.1589

By:

Ferguson, Betsy M.;
Brockdorff, Neil;
Formstone, Emma;
Ngyuen, Tung;
Kronmiller, Jan E.;
Zonana, Jonathan

Publication type:

Article

Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11‐q12.1 with Evidence for Multiple Independent Mutations.

Published in:

Journal of Investigative Dermatology, 1998, v. 111, n. 1, p. 83, doi. 10.1046/j.1523-1747.1998.00245.x

By:

Taylor, Todd D.;
Hayflick, Susan J.;
McKinnon, Wendy;
Guttmacher, Alan E.;
Hovnanian, Alain;
Litt, Mike;
Zonana, Jonathan

Publication type:

Article

Clouston Syndrome (Hidrotic Ectodermal Dysplasia) Is Not Linked to Keratin Gene Clusters on Chromosomes 12 and 17.

Published in:

Journal of Investigative Dermatology, 1996, v. 107, n. 1, p. 11, doi. 10.1111/1523-1747.ep12295239

By:

Hayflick, Susan J.;
Taylor, Todd;
McKinnon, Wendy;
Guttmacher, Alan E.;
Litt, Mike;
Zonana, Jonathan

Publication type:

Article

The Importance of Chilblains as a Diagnostic Clue for Mild Aicardi-Goutières Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3308, doi. 10.1002/ajmg.a.37944

By:

Yarbrough, Kevin;
Danko, Calida;
Krol, Alfons;
Zonana, Jonathan;
Leitenberger, Sabra

Publication type:

Article

Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

Published in:

Nature, 2001, v. 414, n. 6866, p. 913, doi. 10.1038/414913a

By:

Headon, Denis J.;
Emmal, Stephanie A.;
Ferguson, Betsy M.;
Tucker, Abigail S.;
Justice, Monica J.;
Sharpe, Paul T.;
Zonana, Jonathan;
Overbeek, Paul A.

Publication type:

Article

Searching for Human Epilepsy Genes: A Progress Report.

Published in:

Brain Pathology, 1993, v. 3, n. 4, p. 357, doi. 10.1111/j.1750-3639.1993.tb00764.x

By:

Leppert, Mark;
McMahon, William M.;
Quattlebaum, Thomas G.;
Bjerre, Ingrid;
Zonana, Jonathan;
Shevell, Michael I.;
Andermann, Eva;
Rosales, Teodoro O.;
Ronen, Gabriel M.;
Connolly, Mary;
Anderson, V. Elving

Publication type:

Article

Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections.

Published in:

Pediatric Dermatology, 2014, v. 31, n. 6, p. 716, doi. 10.1111/pde.12103

By:

Carlberg, Valerie M.;
Lofgren, Sabra M.;
Mann, Julianne A.;
Austin, Jared P.;
Nolt, Dawn;
Shereck, Evan B.;
Davila‐Saldana, Blachy;
Zonana, Jonathan;
Krol, Alfons L.

Publication type:

Article

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083

By:

Baradaran-Heravi, Alireza;
Cho, Kyoung Sang;
Tolhuis, Bas;
Sanyal, Mrinmoy;
Morozova, Olena;
Morimoto, Marie;
Elizondo, Leah I.;
Bridgewater, Darren;
Lubieniecka, Joanna;
Beirnes, Kimberly;
Myung, Clara;
Leung, Danny;
Fam, Hok Khim;
Choi, Kunho;
Huang, Yan;
Dionis, Kira Y.;
Zonana, Jonathan;
Keller, Kory;
Stenzel, Peter;
Mayfield, Christy

Publication type:

Article