Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Roxanne Fischer"'
Autor:
Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, Cynthia J. Tifft, Camillo Toro, David R. Adams, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel
Publikováno v:
Frontiers in Medicine, Vol 4 (2017)
Traditionally, the use of genomic information for personalized medical decisions relies on prior discovery and validation of genotype–phenotype associations. This approach constrains care for patients presenting with undescribed problems. The Natio
Externí odkaz:
https://doaj.org/article/af6f4d04ca6b42d0ad0634041b7f5a4c
Autor:
Ian A. Glass, John A. Sayer, Kailash Daryanani, Dan Doherty, May Christine V. Malicdan, Joy Bryant, Peter L. Choyke, Melissa A. Parisi, Thierry Vilboux, Meghana Vemulapalli, Roxanne Fischer, William A. Gahl, James C. Mullikin, Meral Gunay-Aygun, Baris Turkbey, Leah R. Fleming
Publikováno v:
Clinical Journal of the American Society of Nephrology. 12:1962-1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. De
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23b1fe2fbdcf62586074487afec64548
https://doi.org/10.2215/cjn.05660517
https://doi.org/10.2215/cjn.05660517
Autor:
Dawn M. Maynard, Thierry Vilboux, Meral Gunay-Aygun, Deniz Yildirimli, May Christine V. Malicdan, Roxanne Fischer, William A. Gahl, Joy Bryant, Meghana Vemulapalli, Luhe Mian, Chulaluck Kuptanon, Joshi Stephen, Marjan Huizing, James C. Mullikin, Courtney M. Sinclair
Publikováno v:
Human Genetics. 136:399-408
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b687bcd94cbbaa642dd28a1a4259d7f
https://doi.org/10.1007/s00439-017-1765-z
https://doi.org/10.1007/s00439-017-1765-z
Autor:
Hadass Pri-Chen, Jennifer A. Wang, Melissa A. Merideth, Marjan Huizing, Richard A. Hess, Kevin J. O'Brien, May Christine V. Malicdan, Bernadette R. Gochuico, Roxanne Fischer, William A. Gahl
Publikováno v:
Hum Mutat
Hermansky–Pudlak syndrome (HPS) is a group of ten autosomal recessive multisystem disorders, each defined by deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor Protein (AP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c6267d92b9cd4c49fb82413762fd5fa
https://pubmed.ncbi.nlm.nih.gov/31898847
https://pubmed.ncbi.nlm.nih.gov/31898847
Autor:
Meral Gunay-Aygun, Joshi Stephen, Daniel Konzman, Jennifer Guo, James C. Mullikin, Roxanne Fischer, Dino Maglic, William A. Gahl, May Christine V. Malicdan, Thierry Vilboux
Publikováno v:
Human Mutation. 37:1144-1148
Joubert and Meckel-Gruber syndromes (JS and MGS) are ciliopathies with overlapping features. JS patients manifest the “molar tooth sign” on brain imaging and variable eye, kidney and liver disease. MGS presents with polycystic kidneys, occipital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04a262ab6d66d3784a0a66c045a1ee67
https://doi.org/10.1002/humu.23054
https://doi.org/10.1002/humu.23054
Autor:
Borna Mehrad, Marie D. Burdick, Jae K. Lee, Robert M. Strieter, Thomas C. Markello, Youngchul Kim, Roxanne Fischer, William A. Gahl, Bernadette R. Gochuico, Aaron T. Trimble
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 190:1395-1401
Rationale: The rate of progression of most interstitial lung diseases (ILD) is unpredictable. Fibrocytes are circulating bone marrow–derived cells that have been implicated in the pathogenesis of lung fibrosis. Hermansky-Pudlak syndrome (HPS), a ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05cee66dc7e63ec055c646e28597e64e
https://doi.org/10.1164/rccm.201407-1287oc
https://doi.org/10.1164/rccm.201407-1287oc
Autor:
Charles J. Billington, Roxanne Fischer, Ann C.M. Smith, William A. Gahl, Thierry Vilboux, Nisc Comparative Sequencing Program, Carla Ciccone, Andrea L. Gropman, James C. Mullikin, Seth I. Berger, Karen L. Simon, Wendy J. Introne, May Christine V. Malicdan, Marjan Huizing, Jan Blancato
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4742c0929320a0d4f93826681047aa6
https://europepmc.org/articles/PMC5848494/
https://europepmc.org/articles/PMC5848494/
Publikováno v:
Archives of Gynecology and Obstetrics. 291:705-708
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. As treatments improve, more women are reaching reproductive age, but little is known about ARPKD and pregnancy.In our ongoing study on ARPKD and othe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e446b53756e78c486d69cb6843d32cb
https://doi.org/10.1007/s00404-014-3445-8
https://doi.org/10.1007/s00404-014-3445-8
Autor:
Dino, Maglic, Joshi, Stephen, May Christine V, Malicdan, Jennifer, Guo, Roxanne, Fischer, Daniel, Konzman, James C, Mullikin, William A, Gahl, Thierry, Vilboux, Meral, Gunay-Aygun
Publikováno v:
Human mutation. 37(11)
Joubert and Meckel-Gruber syndromes (JS and MGS) are ciliopathies with overlapping features. JS patients manifest the "molar tooth sign" on brain imaging and variable eye, kidney, and liver disease. MGS presents with polycystic kidneys, occipital enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd697fa73d3c475e11e497e8db23c779
https://pubmed.ncbi.nlm.nih.gov/27449316
https://pubmed.ncbi.nlm.nih.gov/27449316
Autor:
Andrew R. Cullinane, Nisc Comparative Sequencing Program, Deniz Yildirimli, Joy Bryant, Peter J. Steinbach, Joseph C. Roney, Thierry Vilboux, Meral Gunay-Aygun, Meghana Vemulapalli, May Christine V. Malicdan, Joshi Stephen, Roxanne Fischer, William A. Gahl, James C. Mullikin
Publikováno v:
Am J Med Genet A
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7655d34e41c21a85974f6f07fe239e
https://pubmed.ncbi.nlm.nih.gov/28052552
https://pubmed.ncbi.nlm.nih.gov/28052552