Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Linda Ramsdell"'
Autor:
Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
Externí odkaz:
https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
Publikováno v:
AIMS Genetics, Vol 2, Iss 2, Pp 163-172 (2015)
Genetic testing is judiciously applied to individuals with Disorders of Sex Development (DSD) and so it is necessary to identify those most likely to benefit from such testing. We hypothesized that the external masculinization score (EMS) is inversel
Externí odkaz:
https://doaj.org/article/61d02e4231764e9fa8a500ad4fcea66d
Autor:
Caron A. Jacobson, Caroline Falvey, Riemke Bouvier, Sarah Hogan, Elizabeth Kendricken, Julia Jones, Elizabeth Grimm, Robert A. Redd, Eudocia Q Lee, Luis Gonzalez Castro, Ugonma Chukwueke, Jose McFaline Figueroa, Austin I. Kim, Alexandra Torres, Linda Ramsdell, Leslie S. Kean, Ulrike Gerdemann, Alexandre Albanese, Paula Keskula, David Meredith, Lynette Sholl, Soumya Poddar, Madison Davis, Daquin Mao, Simone Filosto, Mike Mattie, Philippe Armand, Lakshmi Nayak
Publikováno v:
Blood. 140:1060-1061
Autor:
Nancy Tang, Christopher Bourne, Pam Kostaras, Daniel Surette, Kaitlen Reyes, Bethany King, Kimberly Craig, Linda Ramsdell, Julie Porter
Publikováno v:
Transplantation and Cellular Therapy. 29:S433
Autor:
Linda Ramsdell, Katie L. Canalichio, Christina Fisher, Anne-Marie Amies Oelschlager, Patricia Y. Fechner, Margaret P. Adam, Margarett Shnorhavorian
Publikováno v:
Endocrine. 70:170-177
We aim to report outcomes and safety with hormonal suppression to facilitate gonadal preservation in a select group of patients with 46,XY differences in sex development (DSD) who are raised and identify as female yet have diagnoses with potential fo
Autor:
Dalton Canonico, Jacob Laubach, Clifton Mo, Adam Sperling, Sarah Nikiforow, Robert Redd, Linda Ramsdell, Kathleen McDermott, Kathleen Finn, Lauren Desnoyers, Caron Jacobson, Giada Bianchi, Shonali Midha, Monique Hartley-Brown, Irene Ghobrial, Kenneth Anderson, Nikhil Munshi, Omar Nadeem
Publikováno v:
Clinical Lymphoma Myeloma and Leukemia. 22:S39
Autor:
Ee-Shien Tan, John Pappas, Tiffany Busa, Marjolein H. Willemsen, Erica H. Gerkes, Astrid Bruckmann, Linda Ramsdell, Davor Lessel, Chieko Chijiwa, Diana Mitter, Ghayda M. Mirzaa, Peter Ian Andrews, Daniela M. Zeitler, Claudia Schob, Pankaj Prasun, M. E. Suzanne Lewis, Rami Abou Jamra, Andriy Kazantsev, Aida Telegrafi, Steffen Syrbe, Chantal Missirian, Victoria Martens, Kimberly Foss, Margot R.F. Reijnders, Bianca Panis, Ilaria Mannucci, Bernarda Lozić, Fatemeh Hassani Nia, Rolph Pfundt, Tanja Kovacevic, Han G. Brunner, Christian Kubisch, Allyn McConkie-Rosell, Breana Cham, Gunter Meister, Jessika Johannsen, Veronika Graus, Henny H. Lemmink, Stefan Kindler, Jonas Denecke, Kirsty McWalter, Ivana Lessel, Zoya Ignatova, Hans-Jürgen Kreienkamp, Matthew Osmond, Thatjana Gardeitchik, Alexander P.A. Stegmann, Rachel Rabin, Alexander Bartholomäus, Jérémie Mortreux, Katharina Löhner, Tony Roscioli, Tjitske Kleefstra, Taila Hartley, Andreas Merkenschlager, Patrick Rump, Marie T. McDonald, Kym M. Boycott, Evelien Zonneveld-Huijssoon, David A. Dyment, Carey-Anne Evans, Margje Sinnema, Sabine Lüttgen, Joanna Lazier, Diana Le Duc, Kerith-Rae Dias, Ene-Choo Tan
Publikováno v:
Nature Communications
Nature Communications, 11, 1
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11(1):5797. Nature Publishing Group
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11
Nature Communications, 11, 1
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11(1):5797. Nature Publishing Group
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11
ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of this process for cellular functi
Autor:
Katie L, Canalichio, Margarett, Shnorhavorian, Anne-Marie Amies, Oelschlager, Linda, Ramsdell, Christina, Fisher, Margaret P, Adam, Patricia Y, Fechner
Publikováno v:
Endocrine. 70(1)
We aim to report outcomes and safety with hormonal suppression to facilitate gonadal preservation in a select group of patients with 46,XY differences in sex development (DSD) who are raised and identify as female yet have diagnoses with potential fo
Autor:
Lauren Mohnach, John M. Park, Margarett Shnorhavorian, Patricia Y. Fechner, Linda Ramsdell, Ming Chen, Catherine E. Keegan, Elizabeth McCauley, Margaret P. Adam, Heather M. Byers, Anne Marie E. Amies Oelschlager, David E. Sandberg, Inas H. Thomas
Publikováno v:
Journal of Urology. 200:685-687
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia a
Autor:
Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Eric Vilain, Michelle Fox, Wayne Grody, Hane Lee, Catherine Keegan, Linda Ramsdell, Janet Green, Hayk Barseghyan, Naghmeh Dorrani, Lauren Mohnach, Margaret A. Pearson, Jullianne Diaz, Eyby Leon, Robert J. Hopkin, Jodie Johnson, Howard Saal, Ina Amarillo, Margaret Adam
Publikováno v:
Endocrinology and Metabolism Clinics of North America. 46:519-537
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Netwo