المؤلفون: Correa, Fernanda A., França, Marcela M., Fang, Qing, Ma, Qianyi, Bachega, Tania A., Rodrigues, Andresa, Ozel, Bilge A., Li, Jun Z., Mendonca, Berenice B., Jorge, Alexander A. L., Carvalho, Luciani R., Camper, Sally A., Arnhold, Ivo J. P

المصدر: Archives of Endocrinology and Metabolism. December 2017 61(6)

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000600633

المؤلفون: Ho, Ken, Fleseriu, Maria, Kaiser, Ursula, Salvatori, Roberto, Brue, Thierry, Lopes, M, Kunz, Pamela, Molitch, Mark, Camper, Sally, Gadelha, Mônica, Syro, Luis, Laws, Edward, Reincke, Martin, Nishioka, Hiroshi, Grossman, Ashley, Barkan, Ariel, Casanueva, Felipe, Wass, John, Mamelak, Adam, Katznelson, Laurence, van der Lely, Aart, Radovick, Sally, Bidlingmaier, Martin, Boguszewski, Margaret, Bollerslev, Jens, Hoffman, Andrew, Oyesiku, Nelson, Raverot, Gerald, Ben-Shlomo, Anat, Fowkes, Rob, Shimon, Ilan, Fukuoka, Hidenori, Pereira, Alberto, Greenman, Yona, Heaney, Anthony, Gurnell, Mark, Johannsson, Gudmundur, Osamura, Robert, Buchfelder, Michael, Zatelli, Maria, Korbonits, Marta, Chanson, Philippe, Biermasz, Nienke, Clemmons, David, Karavitaki, Niki, Bronstein, Marcello, Trainer, Peter, Melmed, Shlomo

المصدر: Journal of the Endocrine Society. 5(3)

مصطلحات موضوعية: Pituitary neoplasm, neuroendocrine, pituitary adenoma, tumor

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8375z136
https://escholarship.org/content/qt8375z136/qt8375z136.pdf

المؤلفون: Toolan, Kevin P, McGrath, Brian T, Brinkmeier, Michelle L, Camper, Sally A, Bielas, Stephanie L

المصدر: Brain: A Journal of Neurology; Jan2025, Vol. 148 Issue 1, p55-68, 14p

مصطلحات موضوعية: GENETIC regulation, RNA sequencing, HISTONE methyltransferases, AUTISM, GENE expression

المؤلفون: Brinkmeier, Michelle Lynn, George, Akima Semone, Cheung, Leonard Yan Ming, Mills, Ryan Edward, Melamed, Philippa, Camper, Sally Ann

المصدر: Endocrinology; Dec2024, Vol. 165 Issue 12, p1-12, 12p

مصطلحات موضوعية: GENE expression, LINCRNA, PITUITARY gland, CELL differentiation, TRANSGENIC mice

المؤلفون: Ferreira, Nathalia G B P, Madeira, Joao L O, Gergics, Peter, Kertsz, Renata, Marques, Juliana M, Trigueiro, Nicholas S S, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna V, Fernandes, Bianca H V, Bissegatto, Debora D, Biscotto, Isabela P, Fang, Qing, Ma, Qianyi, Ozel, Asye B, Li, Jun, Camper, Sally A, Jorge, Alexander A L, Mendonça, Berenice B, Arnhold, Ivo J P, Carvalho, Luciani R

المصدر: Endocrine Connections ; volume 12, issue 8 ; ISSN 2049-3614

الاتاحة: http://dx.doi.org/10.1530/ec-22-0473
https://ec.bioscientifica.com/view/journals/ec/12/8/EC-22-0473.xml

المؤلفون: Rubel, Cory A, Wu, San-Pin, Lin, Lin, Wang, Tianyuan, Lanz, Rainer B, Li, Xilong, Kommagani, Ramakrishna, Franco, Heather L, Camper, Sally A, Tong, Qiang, Jeong, Jae-Wook, Lydon, John P, DeMayo, Francesco J

المصدر: Cell Reports. 17(5)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Infertility, Cancer, Genetics, Uterine Cancer, Contraception/Reproduction, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, 1.1 Normal biological development and functioning, Animals, Base Sequence, Conserved Sequence, Embryo Implantation, Endometrium, Female, GATA2 Transcription Factor, Gene Regulatory Networks, Humans, Mice, Phosphoproteins, Pregnancy, Progesterone, Protein Binding, Receptors, Progesterone, Signal Transduction, Trans-Activators, Transcription Factors, Transcription, Genetic, Tumor Suppressor Proteins, GATA2, TRP63, endometrium, infertility, path analysis, pregnancy, progesterone, progesterone receptor, structural equation modeling, uterus, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1ch8t92p

المؤلفون: Bando, Hironori, Brinkmeier, Michelle L, Castinetti, Frederic, Fang, Qing, Lee, Mi-Sun, Saveanu, Alexandru, Albarel, Frédérique, Dupuis, Clémentine, Brue, Thierry, Camper, Sally A

المساهمون: Japan Society for the Promotion of Science

المصدر: Human Molecular Genetics ; volume 32, issue 3, page 367-385 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddac192
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac192/45922272/ddac192.pdf
https://academic.oup.com/hmg/article-pdf/32/3/367/48691222/ddac192.pdf

المؤلفون: Bando, Hironori, Urai, Shin, Kanie, Keitaro, Sasaki, Yuriko, Yamamoto, Masaaki, Fukuoka, Hidenori, Iguchi, Genzo, Camper, Sally A.

المساهمون: Japan Society for the Promotion of Science, Takeda Medical Research Foundation, National Institutes of Health

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الاتاحة: http://dx.doi.org/10.3389/fendo.2022.1008306
https://www.frontiersin.org/articles/10.3389/fendo.2022.1008306/full

المؤلفون: Toolan, Kevin P, McGrath, Brian T, Brinkmeier, Michelle L, Camper, Sally A, Bielas, Stephanie L

المصدر: Brain ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awae218
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae218/58367537/awae218.pdf

المؤلفون: Geister, Krista A, Brinkmeier, Michelle L, Hsieh, Minnie, Faust, Susan M, Karolyi, I Jill, Perosky, Joseph E, Kozloff, Kenneth M, Conti, Marco, Camper, Sally A

المصدر: Human Molecular Genetics. 22(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Contraception/Reproduction, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Animals, Base Sequence, Bone Density, Bone Diseases, Developmental, Bone and Bones, Dwarfism, Female, Genotype, Humans, Infertility, Female, MAP Kinase Signaling System, Male, Mice, Mitogen-Activated Protein Kinase 1, Mitogen-Activated Protein Kinase 3, Mutation, Phenotype, Phosphorylation, Protein Kinase Inhibitors, Receptors, Atrial Natriuretic Factor, Reproduction, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0596q2v3

المؤلفون: Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C, Vignola, Maria Lillina, Nicholson, James G, Tan, Rachael, Inoue, Shin-Ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael, Hogler, Wolfgang, Temple, Karen, Davies, Justin, Gagunashvili, Andrey, Robinson, Iain C.A.F., Camper, Sally A, Davis, Shannon W, Cutillas, Pedro, Gevers, Evelien F, Aoki, Yoko, Dattani, Mehul T., Gaston-Massuet, Carles

وصف الملف: text

Relation: https://eprints.soton.ac.uk/448314/1/Angelica_Gualtieri_et_al_BRAF_mutations_disrupt_the_hypothalamo_pituitary_axis_leading_to_hypopituitarism_in_mouse_and_humans_Nature_Communications_20201.pdf; Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C, Vignola, Maria Lillina, Nicholson, James G, Tan, Rachael, Inoue, Shin-Ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael, Hogler, Wolfgang, Temple, Karen, Davies, Justin, Gagunashvili, Andrey, Robinson, Iain C.A.F., Camper, Sally A, Davis, Shannon W, Cutillas, Pedro, Gevers, Evelien F, Aoki, Yoko, Dattani, Mehul T. and Gaston-Massuet, Carles (2021) Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans. Nature Communications, 12 (1), [2028]. (doi:10.1038/s41467-021-21712-4 ).

الاتاحة: https://eprints.soton.ac.uk/448314/
https://eprints.soton.ac.uk/448314/1/Angelica_Gualtieri_et_al_BRAF_mutations_disrupt_the_hypothalamo_pituitary_axis_leading_to_hypopituitarism_in_mouse_and_humans_Nature_Communications_20201.pdf

المؤلفون: Gergics, Peter, Smith, Cathy, Bando, Hironori, Jorge, Alexander A.L., Rockstroh-Lippold, Denise, Vishnopolska, Sebastian, Castinetti, Frederic, Maksutova, Mariam, Carvalho, Luciani Renata Silveira, Hoppmann, Julia, Martínez Mayer, Julián, Albarel, Frédérique, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Martí, Marcelo, Saveanu, Alexandru, Barlier, Anne, A., Abou Jamra, Rami, Guo, Michael, Dauber, Andrew, Nakaguma, Marilena, Mendonca, Berenice, Jayakody, Sajini, Ozel, A. Bilge, Fang, Qing, Ma, Qianyi, Li, Jun, Brue, Thierry, Pérez Millán, María Ines, Arnhold, Ivo J.P., Pfaeffle, Roland, Kitzman, Jacob, Camper, Sally

المساهمون: University of Michigan Ann Arbor, University of Michigan System, Universidade de São Paulo = University of São Paulo (USP), University Hospital Leipzig = Universitätsklinikum Leipzig, Universidad de Buenos Aires Buenos Aires (UBA), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques Hôpital de la Conception - APHM, University of Luebeck, Hospital de Niños 'Ricardo Gutiérrez', Laboratoire de Biochimie et de Biologie Moléculaire Hôpital de la Conception - APHM, Hôpital de la Conception CHU - APHM (LA CONCEPTION), Leipzig University / Universität Leipzig, West Chester University of Pennsylvania (WCUPA), National Children's Hospital, National Institutes of Health (R01HD097096to SAC, R01GM129123 to JOK), the Japan Society for Promotion of Science (HB), Grant 2013/03236-5 from the São Paulo Research Foundation (FAPESP) (IJPA), a grant from Pfizer (RP), and the Argentinean National Agency of Scientific and Technical Promotion, PICT 2016-2913 and PICT 2017-0002 (MIPM)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: alternative splicing, growth hormone deficiency, multiplexed assays of variant effects, transcriptional regulation, massively parallel splicing assay, variants of uncertain significance, hypopituitarism, PIT-1, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الاتاحة: https://amu.hal.science/hal-03293410
https://amu.hal.science/hal-03293410v1/document
https://amu.hal.science/hal-03293410v1/file/Pit1beta_Revision3%20copy.pdf
https://doi.org/10.1016/j.ajhg.2021.06.013

المؤلفون: Daly, Alexandre Z., Dudley, Lindsey A., Peel, Michael T., Liebhaber, Stephen A., Parker, Stephen C. J., Camper, Sally A.

المساهمون: National Institute of Child Health and Human Development, National Institute of General Medical Sciences, National Human Genome Research Institute

المصدر: BMC Biology ; volume 19, issue 1 ; ISSN 1741-7007

الاتاحة: http://dx.doi.org/10.1186/s12915-021-01009-0
https://link.springer.com/content/pdf/10.1186/s12915-021-01009-0.pdf
https://link.springer.com/article/10.1186/s12915-021-01009-0/fulltext.html

المؤلفون: Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T

المصدر: European Journal of Endocrinology ; volume 185, issue 1, page 121-135 ; ISSN 0804-4643 1479-683X

الاتاحة: http://dx.doi.org/10.1530/eje-20-1453
https://eje.bioscientifica.com/view/journals/eje/185/1/EJE-20-1453.xml
https://eje.bioscientifica.com/downloadpdf/journals/eje/185/1/EJE-20-1453.xml

المؤلفون: Brue, Thierry, Camper, Sally A

المصدر: European Journal of Endocrinology ; volume 185, issue 6, page C19-C25 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1530/eje-21-0949
https://eje.bioscientifica.com/view/journals/eje/185/6/EJE-21-0949.xml
https://eje.bioscientifica.com/downloadpdf/journals/eje/185/6/EJE-21-0949.xml

المؤلفون: Nadeau, Joseph H., Balling, Rudi, Barsh, Greg, Beier, David, Brown, S. D. M., Bucan, Maja, Camper, Sally, Carlson, George, Copeland, Neal, Eppig, Janan, Fletcher, Colin, Frankel, Wayne N., Ganten, Detlev, Goldowitz, Dan, Goodnow, Chris, Guenet, Jean-Louis, Hicks, Geoff, de Angelis, Martin Hrabe, Jackson, Ian, Jacob, Howard J., Jenkins, Nancy, Johnson, Dabney, Justice, Monica, Kay, Steve, Kingsley, David, Lehrach, Hans, Magnuson, Terry, Meisler, Miriam, Poustka, AnneMarie, Rinchik, Eugene M., Rossant, Janet, Russell, Lee B., Schimenti, John, Shiroishi, Toshihiko, Skarnes, William C., Soriano, Phil, Stanford, William, Takahashi, Joseph S., Wurst, Wolfgang, Zimmer, Andreas

المصدر: Science, 2001 Feb . 291(5507), 1251-1255.

URL الوصول: https://www.jstor.org/stable/3083482

المؤلفون: Martinez-Mayer, Julian, Brinkmeier, Michelle L., O'Connell, Sean P., Ukagwu, Arnold, Marti, Marcelo A., Miras, Mirta, Forclaz, Maria V., Benzrihen, Maria G., Cheung, Leonard Y. M., Camper, Sally A., Ellsworth, Buffy S., Raetzman, Lori T., Pérez-Millán, Maria I., Davis, Shannon W.

المصدر: Genome Medicine; 5/31/2024, Vol. 16 Issue 1, p1-24, 24p

مصطلحات موضوعية: KNOCKOUT mice, EXOMES, HYPOPITUITARISM, WHOLE genome sequencing, HUMAN abnormalities, GENETIC variation, CONSORTIA

المؤلفون: Probst, Frank J., Fridell, Robert A., Raphael, Yehoash, Saunders, Thomas L., Wang, Aihui, Liang, Yong, Morell, Robert J., Touchman, Jeffrey W., Lyons, Robert H., Noben-Trauth, Konrad, Friedman, Thomas B., Camper, Sally A.

المصدر: Science, 1998 May . 280(5368), 1444-1447.

URL الوصول: https://www.jstor.org/stable/2895919

المؤلفون: Wang, Aihui, Liang, Yong, Fridell, Robert A., Probst, Frank J., Wilcox, Edward R., Touchman, Jeffrey W., Morton, Cynthia C., Morell, Robert J., Noben-Trauth, Konrad, Camper, Sally A., Friedman, Thomas B.

المصدر: Science, 1998 May . 280(5368), 1447-1451.

URL الوصول: https://www.jstor.org/stable/2895920

المؤلفون: Bando, Hironori, Gergics, Peter, Bohnsack, Brenda L, Toolan, Kevin P, Richter, Catherine E, Shavit, Jordan A, Camper, Sally A

المساهمون: National Eye Institute, Japan Society, National Institutes of Health

المصدر: Human Molecular Genetics ; volume 29, issue 10, page 1648-1657 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddaa064
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa064/33314214/ddaa064.pdf
http://academic.oup.com/hmg/article-pdf/29/10/1648/33438068/ddaa064.pdf