Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Maria Elena Hernandez-Gonzalez"'
Autor:
Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-11 (2021)
Abstract Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumor
Externí odkaz:
https://doaj.org/article/85b8e7d1df914feb8bd8c86c7a9bff75
Autor:
Michelle A. Wedemeyer, Tianli Ding, Elizabeth A. R. Garfinkle, Jesse J. Westfall, Jaye B. Navarro, Maria Elena Hernandez Gonzalez, Elizabeth A. Varga, Patricia Witman, Elaine R. Mardis, Catherine E. Cottrell, Anthony R. Miller, Katherine E. Miller
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have
Externí odkaz:
https://doaj.org/article/183a69823ecc4b859a5266f42d70c7e1
Autor:
Esko A, Kautto, Kathleen M, Schieffer, Sean, McGrath, Anthony R, Miller, Maria Elena, Hernandez-Gonzalez, Samantha, Choi, Miriam R, Conces, Esteban, Fernandez-Faith, Mai-Lan, Ho, Kristy, Lee, Anna P, Lillis, Gregory D, Pearson, Stephen G, Kaler, Richard K, Wilson, Elaine R, Mardis, Vincent, Magrini, Jeffrey, Leonard, Catherine E, Cottrell
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e01ed2f7ce09268dc0ed462075856316
https://pubmed.ncbi.nlm.nih.gov/35149534
https://pubmed.ncbi.nlm.nih.gov/35149534
Autor:
Daniel C. Koboldt, Maria Elena Hernandez-Gonzalez, Vincent Magrini, Peter White, Julie Balch Samora, Theresa Mihalic Mosher, Samuel J Franklin, Sean McGrath, Kim L. McBride, Marilena Melas, Ruthann B. Pfau, Richard K. Wilson, Esko A. Kautto, Mari Mori
Publikováno v:
Human mutationREFERENCES. 43(2)
Synpolydactyly 1 (SPD; MIM# 186000), also called syndactyly type II (SDTY2), is a genetic limb malformation characterized by polydactyly with syndactyly involving the webbing of the third and fourth fingers, and the fourth and fifth toes. It is cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::055a2c598febf55e3d7ab3bec4e4a35a
https://pubmed.ncbi.nlm.nih.gov/34859533
https://pubmed.ncbi.nlm.nih.gov/34859533
Autor:
Alexander Z. Feldman, Jeffrey R. Leonard, Catherine E. Cottrell, Brent A. Orr, Peter White, Ala K. Shaikhkhalil, Amy Wetzel, Rolla Abu-Arja, Vibhuti Agarwal, Jonathan L. Finlay, Diana S Osorio, Richard K. Wilson, Annie I. Drapeau, Christopher R. Pierson, Sean McGrath, Stephanie LaHaye, Daniel C. Koboldt, Katherine E. Miller, Diana P Rodriguez, Matija Snuderl, Patrick J. Brennan, Kathleen M. Schieffer, Esko A. Kautto, Elaine R. Mardis, Maria Elena Hernandez-Gonzalez, Margaret Shatara, Vincent Magrini, Benjamin J. Kelly, Suzanne Conley, Anthony R. Miller, Daniel R. Boue
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-11 (2021)
Acta Neuropathologica Communications
Acta Neuropathologica Communications
Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce215653b77265a80b41866077407cc
https://pubmed.ncbi.nlm.nih.gov/33827698
https://pubmed.ncbi.nlm.nih.gov/33827698
Autor:
Esko A Kautto, Kathleen M Schieffer, Sean McGrath, Anthony R Miller, Maria Elena Hernandez Gonzalez, Samantha Choi, Miriam R Conces, Esteban Fernandez-Faith, Mai-Lan Ho, Kristy Lee, Anna P Lillis, Gregory D Pearson, Stephen G Kaler, Richard K Wilson, Elaine R Mardis, Vincent Magrini, Jeffrey Leonard, Catherine E Cottrell
Publikováno v:
Molecular Case Studies. :mcs.a006174
Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2620ad0a5150db2803886011e4974327
https://doi.org/10.1101/mcs.a006174
https://doi.org/10.1101/mcs.a006174
Autor:
Samantha Choi, Daniel C. Koboldt, Aimee Jalkanen, Selene C. Koo, Eileen Stonerock, Gregory D. Pearson, Vincent Magrini, Jeffrey R. Leonard, Stephen G. Kaler, Kristen M. Leraas, James Fitch, Sarah Savage, Stephanie LaHaye, Richard K. Wilson, Bonita Fung, Esteban Fernandez Faith, Kristy Lee, Catherine E. Cottrell, Peter White, Elaine R. Mardis, Maria Elena Hernandez-Gonzalez, Amal Shukri, Anthony J. Miller, Benjamin J. Kelly, Sean McGrath, Kathleen M. Schieffer, Miriam R Conces, Christopher R. Pierson
Publikováno v:
Molecular Genetics and Metabolism. 132:S44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50e144269319f2fcd60b9d8e49f3412e
https://doi.org/10.1016/s1096-7192(21)00148-7
https://doi.org/10.1016/s1096-7192(21)00148-7
Autor:
Tarek Joobeur, Ana I. Caño-Delgado, Mingyun Huang, James J. Giovannoni, Christian Clepet, Maria Elena Hernandez-Gonzalez, Vitaly Portnoy, Abdelhafid Bendahmane, Adnane Boualem, Ramon Dolcet-Sanjuan, Verónica Truniger, Jordi Garcia-Mas, Miguel A. Aranda, Yi Zheng, Zhangjun Fei, Nurit Katzir, Albert Mascarell-Creus, Delphine Jublot
Publikováno v:
BMC Genomics (12), . (2011)
BMC Genomics
BMC Genomics, BioMed Central, 2011, 12, pp.252. ⟨10.1186/1471-2164-12-252⟩
Digital.CSIC. Repositorio Institucional del CSIC
instname
BMC Genomics, 2011, 12, pp.252. ⟨10.1186/1471-2164-12-252⟩
BMC Genomics, Vol 12, Iss 1, p 252 (2011)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BMC Genomics
BMC Genomics, BioMed Central, 2011, 12, pp.252. ⟨10.1186/1471-2164-12-252⟩
Digital.CSIC. Repositorio Institucional del CSIC
instname
BMC Genomics, 2011, 12, pp.252. ⟨10.1186/1471-2164-12-252⟩
BMC Genomics, Vol 12, Iss 1, p 252 (2011)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Background Melon (Cucumis melo), an economically important vegetable crop, belongs to the Cucurbitaceae family which includes several other important crops such as watermelon, cucumber, and pumpkin. It has served as a model system for sex determinati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1984eadded8b1ae1c089648404fd80
http://prodinra.inra.fr/record/203053
http://prodinra.inra.fr/record/203053
