Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Jennifer L. Cohen"'
Autor:
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Rebecca A. Gibson, Bijan Abar, Lily N. Elman, Kyle M. Walsh, Jillian H. Hurst, Jennifer L. Cohen
Publikováno v:
Reproductive, Female and Child Health, Vol 3, Iss 2, Pp n/a-n/a (2024)
Abstract Background Prior research has identified associations between pregnancy complications and specific genetic diagnoses in offspring. Objective The purpose of this study is to provide a broader investigation of associations between infant genet
Externí odkaz:
https://doaj.org/article/3bd008ebd7db488db327eb74bcd87dce
Autor:
Natalie B. Gulrajani, Samuel Montes, Daniel McGough, Courtney E. Wimberly, Ameera Khattab, Eleanor C. Semmes, Lisa Towry, Jennifer L. Cohen, Jillian H. Hurst, Daniel Landi, Sherika N. Hill, Kyle M. Walsh
Publikováno v:
Cancer Medicine, Vol 12, Iss 3, Pp 3410-3418 (2023)
Abstract Objectives To investigate the association between assisted reproductive technology (ART) use and childhood cancer subtype. Study Design We deployed a cross‐sectional survey of 1701 parents of children with cancer about their ART use, demog
Externí odkaz:
https://doaj.org/article/ba922fa4b95b4b92a59ff2606f8deb5d
Autor:
Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified i
Externí odkaz:
https://doaj.org/article/679af5bc69674bcba68ce987b80d72dc
Autor:
Eleanor C. Semmes, Erica Shen, Jennifer L. Cohen, Chenan Zhang, Qingyi Wei, Jillian H. Hurst, Kyle M. Walsh
Publikováno v:
Cancer Medicine, Vol 9, Iss 21, Pp 8216-8225 (2020)
Abstract Background Neuroblastoma is the most common pediatric solid tumor. MYCN‐amplification is an important negative prognostic indicator and inherited genetic contributions to risk are incompletely understood. Genetic determinants of stature in
Externí odkaz:
https://doaj.org/article/8f7d78a889d14cf58f65560acb70db40
Autor:
Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman disease. We sought to determine the outcomes and clinical needs of infants diagnosed wit
Externí odkaz:
https://doaj.org/article/322acde15e3d4f02a484934639284c73
Autor:
Shannon N. Nees, Erika B. Rosenzweig, Jennifer L. Cohen, Gerson A. Valencia Villeda, Usha S. Krishnan
Publikováno v:
Children, Vol 7, Iss 8, p 97 (2020)
Pulmonary hypertension (PH) is common in premature infants with bronchopulmonary dysplasia (BPD) and is associated with significant mortality. Despite expert consensus suggesting the use of targeted therapies such as phosphodiesterase inhibitors, end
Externí odkaz:
https://doaj.org/article/330d8391df244766a79513521ba3d02f
Autor:
Melissa A. Parisi, Michele Caggana, Jennifer L. Cohen, Nina B. Gold, Jill A. Morris, Joseph J. Orsini, Tiina K. Urv, Melissa P. Wasserstein
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:44-55
Autor:
Jerry Vockley, Annemieke Aartsma‐Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, Melissa P. Wasserstein, Thomas Defay
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:19-29
Rare genetic disorders affect as many as 3%-5% of all babies born. Approximately 10,000 such disorders have been identified or hypothesized to exist. Treatment is supportive except in a limited number of instances where specific therapies exist. Deve
Publikováno v:
World Journal for Pediatric and Congenital Heart Surgery. 14:397-399
Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a congenital malformation that classically presents within the first year of life. Few patients survive into adulthood, and initial presentation after the fourth decade of life is r