Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Laura M McDonell"'
Publikováno v:
Journal of Medical Case Reports, Vol 14, Iss 1, Pp 1-5 (2020)
Abstract Background Insulinoma is a rare functioning pancreatic endocrine tumor, typically presenting as a sporadic solitary lesion causing hypoglycemia. While these tumors can lead to marked autonomic and neuroglycopenic symptoms, the diagnosis is o
Externí odkaz:
https://doaj.org/article/ed4d2e787cde4dcba85335ebb9468320
Publikováno v:
Pancreas. 49:788-792
OBJECTIVES Pancreaticoduodenectomy specimens are complex, with varying gross examination techniques. In 2012, our institution began using axial sectioning. We sought to determine if this resulted in more complete pathology reporting. METHODS Quality
Publikováno v:
Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 14, Iss 1, Pp 1-5 (2020)
Journal of Medical Case Reports, Vol 14, Iss 1, Pp 1-5 (2020)
Background Insulinoma is a rare functioning pancreatic endocrine tumor, typically presenting as a sporadic solitary lesion causing hypoglycemia. While these tumors can lead to marked autonomic and neuroglycopenic symptoms, the diagnosis is often dela
Autor:
Kym M. Boycott, Brian H.Y. Chung, Hussein Daoud, Lawrence Lan, Gordon K.C. Leung, Laura M McDonell, Ho Ming Luk, Stella Chim, Janice Ip
Publikováno v:
American Journal of Medical Genetics Part A. 176:2523-2527
Autor:
Afsana Ahmed, Aimee C. Smidt, Carol L. Clericuzio, Dennis E. Bulman, Amanda C. Smith, Sara L. Sawyer, Kym M. Boycott, David A. Dyment, Laura M McDonell, Chandree L. Beaulieu, Kristin D. Kernohan, Izabella A. Pena, Yoko Ito
Publikováno v:
Clinical Genetics. 94:303-312
A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe co
Autor:
Jean McGowan-Jordan, Dina El Demellawy, James Lee, Ahmed Nasr, Laura M McDonell, Milton J. Finegold, Raj P. Kapur, David A. Dyment, Bo Ngan, A S Knisely
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 22(4)
Hepatic mesenchymal hamartoma is a rare benign neoplasm principally encountered in young children. Its origin is unknown. We report an unusual hepatic mesenchymal hamartoma in a 7-month-old girl, including histopathologic findings, immunophenotype, a
Autor:
Paula Morris, Rani Sachdev, Kevin Ying, Rebecca Macintosh, Kerith-Rae Dias, Holly Dubbs, Jiang Tao, Amy M. Breman, Mark J. Cowley, Oana Caluseriu, Laura M McDonell, Oksana Suchowersky, Li Wang, Berivan Baskin, Tony Roscioli, Elizabeth E. Palmer, Vincenzo A. Gennarino, Carolyn J. Adamski, Ann M. E. Bye, Chun-An Chen, Jessica A. Panzer, Michael Cardamone, Jianrong Tang, Huda Y. Zoghbi, Marcel E. Dinger, Ying Zhu, Edwin P. Kirk, Amanda Koire, J. Lloyd Holder, Megan T. Cho, Lindsay B. Henderson, Ute Moog, Lauren See, Kym M. Boycott, Tejaswi Kandula, Pawel Stankiewicz, Jill A. Rosenfeld, Shuang Hao, Olivier Lichtarge, Christian P. Schaaf, Arran McBride
Publikováno v:
Epilepsy Currents
A Mild PUM1 Mutation Is Associated With Adult-Onset Ataxia, Whereas Haploinsufficiency Causes Developmental Delay and Seizures Gennarino VA, Palmer EE, McDonell LM, et al. Cell. 2018;172(5):924-936.e11. doi:10.1016/j.cell.2018.02.006. Certain mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0243e6571b7b879b3870a5a81bc46c
https://hdl.handle.net/10453/128125
https://hdl.handle.net/10453/128125
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin
Receptor tyrosine kinases (RTKs) are a family of ligand-binding cell surface receptors that regulate a wide range of essential cellular activities, including proliferation, differentiation, cell-cycle progression, survival and apoptosis. As such, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b1769ad1ad8ff47d9b1428a493e03
https://europepmc.org/articles/PMC4572000/
https://europepmc.org/articles/PMC4572000/
Autor:
Laura M McDonell, Dennis E. Bulman, Chandree L. Beaulieu, Jodi Warman Chardon, Jeremy Schwartzentruber, Jacek Majewski, Denise Foster, Kym M. Boycott
Publikováno v:
BMC Neurology
Background Despite remarkable advances in genetic testing, many adults with syndromic epilepsy remain without a molecular diagnosis. The challenge in providing genetic testing for this patient population lies in the extensive genetic heterogeneity as
Autor:
Mark O'Driscoll, Brendan J. Frey, Gyula Acsadi, Deborah J. Morris-Rosendahl, Janet Marcadier, Diana Alcantara, William B. Dobyns, Melissa T. Carter, Tilman Polster, Anne R Halbert, Laura M McDonell, Sharron Townshend, John M. Graham, Carol L. Clericuzio, Alex R. Paciorkowski, John Woulfe, Kym M. Boycott, Jacek Majewski, Ghayda M. Mirzaa, Leo J. Lee, Albert David, Simon Williams, Marcia C. Willing, Chandree L. Beaulieu, Jeremy Schwartzentruber, Dennis E. Bulman, Christopher D. Smyser, Bertrand Isidor, Michael T. Geraghty, Soma Das
Publikováno v:
U136
Nature genetics
Nature genetics
Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5378b10d5b50c31d61404298a20ccbb4
http://hdl.handle.net/10044/1/101006
http://hdl.handle.net/10044/1/101006