Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Colleen F. Macmurdo"'
Autor:
Jose M. Santiago, Christina F. Jack, Krista L. Birkemeier, Matthew Crisp, Colleen F. Macmurdo
Publikováno v:
Pediatric Radiology. 51:1758-1761
This case report of a 14-year-old boy with arthralgia and clinically suspected inflammatory arthropathy highlights how magnetic resonance imaging (MRI) ultimately diagnosed skeletal dysplasia. A genetic evaluation revealed a transient receptor potent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1848456c5613c6f96c80489080f55fab
https://doi.org/10.1007/s00247-021-05027-6
https://doi.org/10.1007/s00247-021-05027-6
Autor:
Carlos Casasnovas, Agatha Schlüter, Aurora Pujol, Reza Maroofian, Yue Si, Edgard Verdura, Juan José Martínez, Stephanie S Thompson, Laura Planas-Serra, Colleen F. Macmurdo, Valentina Vélez-Santamaría, Josefina Casas
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Recently, Vaz et al. reported four families with complex hereditary spastic paraplegia (cHSP) and biallelic variants in PCYT2 encoding CTP: phosphoethanolamine cytidylyltransferase (ET), the rate-limiting enzyme for phosphatidylethanolamine biosynthe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55e9066fa2219000f9e5053953bbd76
https://pubmed.ncbi.nlm.nih.gov/32889543
https://pubmed.ncbi.nlm.nih.gov/32889543
Autor:
Christina F, Jack, Krista L, Birkemeier, Jose M, Santiago, Colleen F, Macmurdo, Matthew B, Crisp
Publikováno v:
Pediatric radiology. 51(9)
This case report of a 14-year-old boy with arthralgia and clinically suspected inflammatory arthropathy highlights how magnetic resonance imaging (MRI) ultimately diagnosed skeletal dysplasia. A genetic evaluation revealed a transient receptor potent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aa39161327c125cb8663a1cf399ac384
https://pubmed.ncbi.nlm.nih.gov/33710406
https://pubmed.ncbi.nlm.nih.gov/33710406
Autor:
Matthew B. Wallenstein, David A. Stevenson, Carlos Milla, Whitney Wooderchak-Donahue, Colleen F. Macmurdo, Jenny Le, Joyce M.C. Teng, Jonathan A. Bernstein, Pinar Bayrak-Toydemir
Publikováno v:
American Journal of Medical Genetics Part A. 170:1450-1454
Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e12e88efc5fcd0e6a7c6b17054173f
https://doi.org/10.1002/ajmg.a.37613
https://doi.org/10.1002/ajmg.a.37613
Autor:
Mary S. Willis, Valerie A. Arboleda, Melanie A. Manning, Fabiola Quintero-Rivera, Florian Barthélémy, Hane Lee, Neda Zadeh, Naghmeh Dorrani, Louanne Hudgins, M. Carrie Miceli, Sibel Kantarci, Eric Vilain, Stanley F. Nelson, Colleen F. Macmurdo, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Andrea Kwan
Publikováno v:
The American Journal of Human Genetics. 96:498-506
Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aa62f72d3995bfde2a9ad0dc14cf67b
https://doi.org/10.1016/j.ajhg.2015.01.017
https://doi.org/10.1016/j.ajhg.2015.01.017
Autor:
Raul Urrutia, Nicole J. Boczek, Margot A. Cousin, Patrick R. Blackburn, Paldeep S. Atwal, Colleen F. Macmurdo, Michael T. Zimmermann, Eric W. Klee
Publikováno v:
Case Reports in Genetics
Case Reports in Genetics, Vol 2017 (2017)
Case Reports in Genetics, Vol 2017 (2017)
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3adbe160e9ad2136374b314e470c1829
https://eprints.gla.ac.uk/220342/1/220342.pdf
https://eprints.gla.ac.uk/220342/1/220342.pdf
Autor:
Paldeep S. Atwal, Colleen F. Macmurdo
Publikováno v:
Journal of Pediatric Genetics. :201-203
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f8dec56b7006887cd0994dfbc95222
https://doi.org/10.1055/s-0035-1565267
https://doi.org/10.1055/s-0035-1565267
Autor:
Carleton Goold, Nadia Solovieff, William B. Dobyns, Richard A. Gibbs, Elisa Rahikkala, Jonathan D. Biag, Colleen F. Macmurdo, Eric Boerwinkle, Sonya A. Gunter, Sandra L. Poliachik, Brian H.Y. Chung, Christine D. Wilson, Evan A. Boyle, Scott Mahan, Robert F. Hevner, Russell P. Saneto, Katta M. Girisha, Rebecca Leary, Wendy Winckler, Molly Weaver, Sharon S. McDaniel, Jay Shendure, Laura A. Jansen, Shanming Liu, Shalini N. Jhangiani, Andrew E. Timms, William R. Sellers, Gisele Ishak, Michael Morrissey, Michael O. Dorschner, Donna M. Muzny, Catarina D. Campbell, Jeffrey G. Ojemann, Beth Martin, Edward J. Novotny, Renzo Guerrini, Ghayda M. Mirzaa, Leon Murphy, Valerio Conti, Jonathan A. Bernstein, James R. Lupski, Sarah Collins, Suchithra Menon, Carissa Olds, Kit San Yeung
Publikováno v:
JAMA neurology. 73(7)
Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7d0a49983a07e254d5281c050e787f
https://pubmed.ncbi.nlm.nih.gov/27158974
https://pubmed.ncbi.nlm.nih.gov/27158974
Autor:
Richter, John E.1,2, Zimmermann, Michael T.3, Blackburn, Patrick R.3,4,5, Mohammad, Ahmed N.1, Klee, Eric W.1,3,4,5, Pollard, Laura M.6, Macmurdo, Colleen F.7, Atwal, Paldeep S.1,2, Caulfield, Thomas R.8 Caulfield.Thomas@mayo.edu
Publikováno v:
Molecular Genetics & Genomic Medicine. Nov2018, Vol. 6 Issue 6, p1229-1235. 7p.
Autor:
Macmurdo, Colleen F., Wooderchak‐Donahue, Whitney, Bayrak‐Toydemir, Pinar, Le, Jenny, Wallenstein, Matthew B., Milla, Carlos, Teng, Joyce M. C., Bernstein, Jonathan A., Stevenson, David A.
Publikováno v:
American Journal of Medical Genetics. Part A; Jun2016, Vol. 170A Issue 6, p1450-1454, 5p