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A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1866, doi. 10.1002/ajmg.a.61291
By:
- Hung, Christina Y.;
- Rodriguez, Mario;
- Roberts, Abra;
- Bauer, Mislen;
- Mihalek, Ivana;
- Bodamer, Olaf
Publication type:
Article
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 3, p. 406, doi. 10.1111/epi.14653
By:
- Kelly, McKenna;
- Park, Meredith;
- Mihalek, Ivana;
- Rochtus, Anne;
- Gramm, Marie;
- Pérez‐Palma, Eduardo;
- Axeen, Erika Takle;
- Hung, Christina Y.;
- Olson, Heather;
- Swanson, Lindsay;
- Anselm, Irina;
- Briere, Lauren C.;
- High, Frances A.;
- Sweetser, David A.;
- Kayani, Saima;
- Snyder, Molly;
- Calvert, Sophie;
- Scheffer, Ingrid E.;
- Yang, Edward;
- Waugh, Jeff L.
Publication type:
Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Published in:
Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
By:
- Tuschl, Karin;
- Meyer, Esther;
- Valdivia, Leonardo E.;
- Zhao, Ningning;
- Dadswell, Chris;
- Abdul-Sada, Alaa;
- Hung, Christina Y.;
- Simpson, Michael A.;
- Chong, W. K.;
- Jacques, Thomas S.;
- Woltjer, Randy L.;
- Eaton, Simon;
- Gregory, Allison;
- Sanford, Lynn;
- Kara, Eleanna;
- Houlden, Henry;
- Cuno, Stephan M.;
- Prokisch, Holger;
- Valletta, Lorella;
- Tiranti, Valeria
Publication type:
Article
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
By:
- Liang, Lina;
- Li, Xia;
- Moutton, Sébastien;
- Vergano, Samantha A Schrier;
- Cogné, Benjamin;
- Saint-Martin, Anne;
- Hurst, Anna C E;
- Hu, Yushuang;
- Bodamer, Olaf;
- Thevenon, Julien;
- Hung, Christina Y;
- Isidor, Bertrand;
- Gerard, Bénédicte;
- Rega, Adelaide;
- Nambot, Sophie;
- Lehalle, Daphné;
- Duffourd, Yannis;
- Thauvin-Robinet, Christel;
- Faivre, Laurence;
- Bézieau, Stéphane
Publication type:
Article
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
Published in:
PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189324
By:
- Hung, Christina Y.;
- Volkmar, Barbara;
- Baker, James D.;
- Bauer, Johann W.;
- Gussoni, Emanuela;
- Hainzl, Stefan;
- Klausegger, Alfred;
- Lorenzo, Jose;
- Mihalek, Ivana;
- Rittinger, Olaf;
- Tekin, Mustafa;
- Dallman, Julia E.;
- Bodamer, Olaf A.
Publication type:
Article

Found: 5

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.