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Germline findings in cancer predisposing genes from a small cohort of chordoma patients.
Published in:
Journal of Cancer Research & Clinical Oncology, 2024, v. 150, n. 5, p. 1, doi. 10.1007/s00432-024-05706-5
By:
- Raygada, Margarita;
- John, Liny;
- Liu, Anne;
- Schultz, Julianne;
- Thomas, B. J.;
- Bernstein, Donna;
- Miettinen, Markku;
- Raffeld, Mark;
- Xi, Liqiang;
- Tyagi, Manoj;
- Aldape, Kenneth;
- Glod, John;
- Reilly, Karlyne M.;
- Widemann, Brigitte C.;
- Wedekind, Mary Frances
Publication type:
Article
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Published in:
Journal of Cancer Research & Clinical Oncology, 2017, v. 143, n. 8, p. 1421, doi. 10.1007/s00432-017-2397-3
By:
- Jochmanova, Ivana;
- Wolf, Katherine;
- King, Kathryn;
- Nambuba, Joan;
- Wesley, Robert;
- Martucci, Victoria;
- Raygada, Margarita;
- Adams, Karen;
- Prodanov, Tamara;
- Fojo, Antonio;
- Lazurova, Ivica;
- Pacak, Karel
Publication type:
Article
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
Published in:
Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 468, doi. 10.4274/jcrpe.2539
By:
- Korkut, Sabriye;
- Baştuğ, Osman;
- Raygada, Margarita;
- Hatipoğlu, Nihal;
- Kurtoğlu, Selim;
- Kendirci, Mustafa;
- Lyssikatos, Charalampos;
- Stratakis, Constantine A.
Publication type:
Article
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Published in:
2016
By:
- Schernthaner-Reiter, Marie;
- Adams, David;
- Trivellin, Giampaolo;
- Ramnitz, Mary;
- Raygada, Margarita;
- Golas, Gretchen;
- Faucz, Fabio;
- Nilsson, Ola;
- Nella, Aikaterini;
- Dileepan, Kavitha;
- Lodish, Maya;
- Lee, Paul;
- Tifft, Cynthia;
- Markello, Thomas;
- Gahl, William;
- Stratakis, Constantine;
- Schernthaner-Reiter, Marie Helene;
- Ramnitz, Mary Scott;
- Faucz, Fabio R;
- Nella, Aikaterini A
Publication type:
journal article
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1282, doi. 10.1002/ajmg.a.62099
By:
- Raygada, Margarita;
- Raffeld, Mark;
- Bernstein, Andrew;
- Miettinen, Markku;
- Glod, John;
- Hughes, Marybeth S.;
- Reilly, Karlyne;
- Widemann, Brigitte;
- Rivero, Jaydira Del
Publication type:
Article
Barakat syndrome revisited.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1341, doi. 10.1002/ajmg.a.38693
By:
- Barakat, Amin J.;
- Raygada, Margarita;
- Rennert, Owen M.
Publication type:
Article
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
Published in:
2015
By:
- Xekouki, Paraskevi;
- Szarek, Eva;
- Bullova, Petra;
- Giubellino, Alessio;
- Quezado, Martha;
- Mastroyannis, Spyridon A;
- Mastorakos, Panagiotis;
- Wassif, Christopher A;
- Raygada, Margarita;
- Rentia, Nadia;
- Dye, Louis;
- Cougnoux, Antony;
- Koziol, Deloris;
- Sierra, Maria de La Luz;
- Lyssikatos, Charalampos;
- Belyavskaya, Elena;
- Malchoff, Carl;
- Moline, Jessica;
- Eng, Charis;
- Maher 3rd, Louis James
Publication type:
journal article
ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.
Published in:
2012
By:
- Kino T;
- Pavlatou MG;
- Moraitis AG;
- Nemery RL;
- Raygada M;
- Stratakis CA;
- Kino, Tomoshige;
- Pavlatou, Maria G;
- Moraitis, Andreas G;
- Nemery, Robin L;
- Raygada, Margarita;
- Stratakis, Constantine A
Publication type:
journal article
Clinical Presentations, Biochemical Phenotypes, and Genotype-Phenotype Correlations in Patients with Succinate Dehydrogenase Subunit B-Associated Pheochromocytomas and Paragangliomas.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 3, p. 779, doi. 10.1210/jc.2006-2315
By:
- Timmers, Henri J. L. M.;
- Kozupa, Anna;
- Eisenhofer, Graeme;
- Raygada, Margarita;
- Adams, Karen T.;
- Solis, Daniel;
- Lenders, Jacques W. M.;
- Pacak, Karel
Publication type:
Article
Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation.
Published in:
Journal of the Endocrine Society, 2019, v. 3, n. 1, p. 284, doi. 10.1210/js.2018-00343
By:
- Xie, Changqing;
- Tanakchi, Sally;
- Raygada, Margarita;
- Davis, Jeremy L;
- Rivero, Jaydira Del
Publication type:
Article
Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 837, doi. 10.1515/jpem-2013-0369
By:
- Raygada, Margarita;
- King, Kathryn S.;
- Adams, Karen T.;
- Stratakis, Constantine A.;
- Pacak, Karel
Publication type:
Article
Update on Targeted Therapy in Medullary Thyroid Cancer.
Published in:
Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.708949
By:
- Okafor, Christian;
- Hogan, Julie;
- Raygada, Margarita;
- Thomas, Barbara J.;
- Akshintala, Srivandana;
- Glod, John W.;
- Del Rivero, Jaydira
Publication type:
Article
Clinical, Diagnostic, and Treatment Characteristics of SDHA -Related Metastatic Pheochromocytoma and Paraganglioma.
Published in:
Frontiers in Oncology, 2019, p. 1, doi. 10.3389/fonc.2019.00053
By:
- Jha, Abhishek;
- de Luna, Kristine;
- Balili, Charlene Ann;
- Millo, Corina;
- Paraiso, Cecilia Angela;
- Ling, Alexander;
- Gonzales, Melissa K.;
- Viana, Bruna;
- Alrezk, Rami;
- Adams, Karen T.;
- Tena, Isabel;
- Chen, Alice;
- Neuzil, Jiri;
- Raygada, Margarita;
- Kebebew, Electron;
- Taieb, David;
- O'Dorisio, M. Sue;
- O'Dorisio, Thomas;
- Civelek, Ali Cahid;
- Stratakis, Constantine A.
Publication type:
Article
NCI intramural program approach to rare tumors: Natural history study of rare solid tumors in children and adults: A longitudinal, comprehensive data and biospecimen collection protocol.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30495
By:
- Wedekind, Mary Frances;
- Reilly, Karlyne M.;
- Rivero, Jaydira Del;
- Lockridge, Robin;
- Allen, Taryn;
- Raygada, Margarita;
- Bernstein, Donna;
- Thomas, Barbara J.;
- Vivelo, Christina;
- Levine, Jason;
- Shonkoev, Nurlan;
- Aldape, Kenneth;
- Glod, John;
- Sandler, Abby B.;
- Widemann, Brigitte C.
Publication type:
Article
The NIH pediatric/young adult chordoma clinic and natural history study: Making advances in a very rare tumor.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30358
By:
- John, Liny;
- Smith, Hannah;
- Ilanchezhian, Maran;
- Lockridge, Robin;
- Reilly, Karlyne M.;
- Raygada, Margarita;
- Dombi, Eva;
- Sandler, Abby;
- Thomas, Barbara J.;
- Glod, John;
- Miettinen, Markku;
- Allen, Taryn;
- Sommer, Josh;
- Levy, Joan;
- Lozinsky, Shannon;
- Dix, David;
- Bouffet, Eric;
- MacDonald, Shannon;
- Mukherjee, Debraj;
- Snyderman, Carl H.
Publication type:
Article
Alterations in mammary gland development following neonatal exposure to estradiol, transforming growth factor α, and estrogen receptor antagonist ICI 182,780.
Published in:
Journal of Cellular Physiology, 1997, v. 170, n. 3, p. 279, doi. 10.1002/(SICI)1097-4652(199703)170:3<279::AID-JCP9>3.0.CO;2-L
By:
- Hilakivi-Clarke, Leena;
- Cho, Elizabeth;
- Raygada, Margarita;
- Kenney, Nicholas
Publication type:
Article
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.
Published in:
Pediatric Blood & Cancer, 2010, v. 54, n. 1, p. 173, doi. 10.1002/pbc.22297
By:
- Raygada, Margarita;
- Arthur, Diane C.;
- Wayne, Alan S.;
- Rennert, Owen M.;
- Toretsky, Jeffrey A.;
- Stratakis, Constantine A.
Publication type:
Article
Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2.
Published in:
Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.954879
By:
- Merchant, Mythili;
- Raygada, Margarita;
- Ying Pang;
- Quezado, Martha;
- Raffeld, Mark;
- Liqiang Xi;
- Jung Kim;
- Tyagi, Manoj;
- Abdullaev, Zied;
- Kim, Olga;
- Sergi, Zach;
- Pillai, Tina;
- Ozer, Byram;
- Zaghloul, Kareem;
- Heiss, John D.;
- Armstrong, Terri S.;
- Gilbert, Mark R.;
- Aldape, Kenneth;
- Jing Wu
Publication type:
Article
Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons.
Published in:
Molecular Neurobiology, 2017, v. 54, n. 6, p. 4507, doi. 10.1007/s12035-016-9961-8
By:
- Liu, Xiaozhuo;
- Campanac, Emilie;
- Cheung, Hoi-Hung;
- Ziats, Mark;
- Canterel-Thouennon, Lucile;
- Raygada, Margarita;
- Baxendale, Vanessa;
- Pang, Alan;
- Yang, Lu;
- Swedo, Susan;
- Thurm, Audrey;
- Lee, Tin-Lap;
- Fung, Kwok-Pui;
- Chan, Wai-Yee;
- Hoffman, Dax;
- Rennert, Owen
Publication type:
Article

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