Zobrazeno 1 - 10
of 29
pro vyhledávání: '"John J Mulvihill"'
Autor:
Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill A. Rosenfeld, Erin Torti, Chad Haldeman-Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F. Nelson, Julian A. Martinez-Agosto, Christina G.S. Palmer, Rebecca H. Signer, Maria T. Acosta, Margaret Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Daya, Matthew Deardorff, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Laurie C. Findley, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Alica M. Goldman, Madison P. Goldrich, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Neil A. Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Laryssa Huryn, Rosario Isasi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Lefkothea Karaviti, Jennifer Kennedy, Dana Kiley, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Joel B. Krier, Grace L. LaMoure, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Lea Latham, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, John MacDowall, Calum A. MacRae, Ellen F. Macnamara, Valerie V. Maduro, Marta M. Majcherska, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Paolo Moretti, Deborah Mosbrook-Davis, John J. Mulvihill, David R. Murdock, Anna Nagy, Mariko Nakano-Okuno, Avi Nath, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, Lorraine Potocki, Bradley Power, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Deepak A. Rao, Wendy Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, C. Ron Scott, Daryl A. Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, null Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Amelia L.M. Tan, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Audrey Thurm, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Jeremy D. Woods, Shinya Yamamoto, John Yang, Muhammad Yousef, Diane B. Zastrow, Wadih Zein, Chunli Zhao, Stephan Zuchner, Marisa V. Andrews, Dorothy K. Grange, Rebecca Willaert, Richard Person, Aida Telegrafi, Aaron Sievers, Magdalena Laugsch, Susanne Theiß, YuZhu Cheng, Olivier Lichtarge, Panagiotis Katsonis, Amber Stocco, Christian P. Schaaf
Publikováno v:
Genetics in Medicine
Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the c
Autor:
Karoline Doser, Hanne Hove, John R Østergaard, Pernille E Bidstrup, Susanne O Dalton, Mette Møller Handrup, Cecilie Ejerskov, Anja Krøyer, Mia Aagaard Doherty, Jens Richardt Møllegaard Jepsen, John J Mulvihill, Jeanette F Winther, Line Kenborg
Publikováno v:
Doser, K, Hove, H, Østergaard, J R, Bidstrup, P E, Dalton, S O, Handrup, M M, Ejerskov, C, Krøyer, A, Doherty, M A, Møllegaard Jepsen, J R, Mulvihill, J J, Winther, J F & Kenborg, L 2022, ' Cohort profile : life with neurofibromatosis 1-the Danish NF1 cohort ', BMJ Open, vol. 12, no. 9, e065340 . https://doi.org/10.1136/bmjopen-2022-065340
PurposeThe Danish neurofibromatosis 1 (NF1) cohort was initiated to study health-related, socioeconomic and psychological consequences of living with the monogenetic disorder NF1 using a nationwide and population-based approach.ParticipantsThe cohort
Autor:
Anja Krøyer, Cristina Boschini, Sven Asger Sørensen, Line Kenborg, Karoline Doser, Hanne Hove, Christoffer Johansen, Pernille Envold Bidstrup, Thomas T. Nielsen, Susanne Oksbjerg Dalton, Kirsten Frederiksen, Jeanette Falck Winther, John R. Østergaard, John J. Mulvihill
Publikováno v:
Kenborg, L, Boschini, C, Bidstrup, P E, Dalton, S O, Doser, K, Nielsen, T T, Krøyer, A, Johansen, C, Frederiksen, K, Sørensen, S A, Hove, H, Østergaard, J R, Mulvihill, J J & Winther, J F 2022, ' Pregnancy outcomes in women with neurofibromatosis 1 : a Danish population-based cohort study ', Journal of Medical Genetics, vol. 59, no. 3, pp. 237-242 . https://doi.org/10.1136/jmedgenet-2020-107201
BackgroundThe probability of a pregnancy, live birth, stillbirth and abortion has never been assessed in women with neurofibromatosis 1 (NF1) in a large population-based study.MethodsWe included 1006 women (15–49 years) registered with NF1 in the D
Autor:
Jeanette Falck Winther, John D. Boice, John J. Mulvihill, Christoffer Johansen, Betina Frydenlund Nielsen, Kirsten Frederiksen, E. Janet Tawn, Anne Aarslev Schmidt, Marilyn Stovall
Publikováno v:
Nielsen, B F, Schmidt, A A, Mulvihill, J J, Frederiksen, K, Tawn, E J, Stovall, M, Johansen, C, Boice, J D & Winther, J F 2018, ' Chromosomal Abnormalities in Offspring of Young Cancer Survivors : A Population-Based Cohort Study in Denmark ', Journal of the National Cancer Institute, vol. 110, no. 5, pp. 534-538 . https://doi.org/10.1093/jnci/djx248
To examine whether cancer survivors diagnosed before age 35 years are more likely to have offspring with chromosomal abnormalities than their siblings, chromosomal abnormalities were determined in a population-based cohort of 14 611 offspring (14 580
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1327d4d13524a609373a7c6fd454fdc1
https://pure.au.dk/portal/da/publications/chromosomal-abnormalities-in-offspring-of-young-cancer-survivors(310af41a-fae0-478b-b398-0559ec785c96).html
https://pure.au.dk/portal/da/publications/chromosomal-abnormalities-in-offspring-of-young-cancer-survivors(310af41a-fae0-478b-b398-0559ec785c96).html
Autor:
Russell S. Kirby, John J. Mulvihill, Tabitha Hendershot, Hyagriv N. Simhan, Siobhan M. Dolan, Lisa Kilpatrick, Mark A. Klebanoff, Cande V. Ananth, Patrick M. Catalano, Erin M. Ramos, Erin P. Hines, Deborah Maiese, Ann Kinga Malinowski, Michael J. Phillips, Rosalind J. Wright, Carol Hamilton
Only through concerted and well-executed research endeavors can we gain the requisite knowledge to advance pregnancy care and have a positive impact on maternal and newborn health. Yet the heterogeneity inherent in individual studies limits our abili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf4691b87157daa3c3e92fae9fefce9f
https://europepmc.org/articles/PMC5581223/
https://europepmc.org/articles/PMC5581223/
Autor:
Gregory R. Medders, Gene Hallford, John J. Mulvihill, Ryan W. Huey, Christina D. Mumm, Brady P. Selig, Colin Moran, Vinod N. Alluri, James Furr
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 94:626-650
BACKGROUND Cancer is the second leading cause of death among women of reproductive age. Although the coincidence of pregnancy and cancer is rare and treatment may sometimes be safely delayed, the use of chemotherapeutic agents in pregnancy is sometim
Autor:
Ann C. Mertens, Heather M. Munro, Daniel M. Green, Leslie L. Robison, Lisa B. Signorello, John J. Mulvihill, John Whitton, Rita E. Weathers, Marilyn Stovall, John D. Boice
Publikováno v:
The Lancet. 376:624-630
Summary Background The reproductive implications of mutagenic treatments given to children with cancer are not clear. By studying the risk of untoward pregnancy outcomes, we indirectly assessed the risk of transmission of germline damage to the offsp
Autor:
Jesse Wilkins, Brandi Blaisdell Kattman, Shibo Li, Jean R. Goodman, Patrick L. Wilson, John J. Mulvihill, Andrew Wagner
Publikováno v:
Genetic Testing and Molecular Biomarkers. 13:515-519
The L1 cell adhesion molecule (L1CAM) is a protein encoded by a gene that has been localized to Xq28, is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules, and plays a role in CNS development and maturation. L1CAM is expr
Autor:
John D. Boice, Yutaka Yasui, Marilyn Stovall, John J. Mulvihill, Charles A. Sklar, John Whitton, Daniel M. Green
Publikováno v:
Journal of Clinical Oncology. 27:2374-2381
These studies were undertaken to determine the effect, if any, of treatment for cancer diagnosed during childhood or adolescence on ovarian function and reproductive outcomes. We reviewed the frequency of acute ovarian failure, premature menopause, l
Autor:
Andrew Wagner, Erica Cole, Patrick L. Wilson, John J. Mulvihill, Jiyun Lee, Jean R. Goodman, Shibo Li
Publikováno v:
American Journal of Biomedical Research. 1:25-27
Prenatal diagnosis of Cornelia de Lange syndrome (CDLs) is difficult due to non-specific ultrasound and biochemical findings, normal karyotype, and negative family history. Previous studies suggest that low first and second trimester levels of pregna