Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Emma C. Bedoukian"'
Autor:
Devin C. Cohen, Alexander Sumaroka, Joshua A. Paulos, Tara C. Mitchell, Arlene J. Santos, Erin C. O'Neil, Emma C. Bedoukian, Grazyna Adamus, Artur V. Cideciyan, Tomas S. Aleman
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102098- (2024)
Purpose: To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of TRPM1-associated Congenital Stationary
Externí odkaz:
https://doaj.org/article/b20cab0415ad4cbdb0b901937761b9df
Autor:
Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Variants in the GJB2 gene encoding the gap junction protein connexin‐26 (Cx26) can cause autosomal recessive nonsyndromic hearing loss or a variety of phenotypically variable autosomal dominant disorders that effect skin and hea
Externí odkaz:
https://doaj.org/article/2d95d14baaac441f80eccc9b992857b3
Autor:
Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Publikováno v:
Brain Sciences, Vol 11, Iss 7, p 931 (2021)
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series,
Externí odkaz:
https://doaj.org/article/cd8e4dea5b2c48d282be6765b4691c22
Autor:
Tomas S. Aleman, Erin C. O’Neil, Katherine E. Uyhazi, Kelsey M. Parchinski, Arlene J. Santos, Mariejel L. Weber, Sherice P. Colclough, Andrew S. Billek, Xiaosong Zhu, Bart P. Leroy, Emma C. Bedoukian
Publikováno v:
Ophthalmic Genetics. 43:824-833
Autor:
Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A. Sayer, Jan Halbritter
Publikováno v:
The American Journal of Human Genetics.
Publikováno v:
Ophthalmic Genetics. 43:555-560
Autor:
Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
Publikováno v:
The Journal of Molecular Diagnostics. 24:274-286
Autor:
Sarah R. van der Ende, Benjamin S. Meyers, Jenina E. Capasso, Mario Sasongko, Yoshihiro Yonekawa, Matthew Pihlblad, Jennifer Huey, Emma C. Bedoukian, Ian D. Krantz, Michael H. Ngo, Christopher R. McMaster, Alex V. Levin, Johane M. Robitaille
Publikováno v:
JAMA ophthalmology. 140(9)
ImportanceFamilial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates the potential role beyond ocular abnormalities for FZD4 gene variants in
Autor:
Sabrina Bulas, Emma C. Bedoukian, Erin C. O'Neil, Ian D. Krantz, Sabrina W. Yum, Grant T. Liu, Tomas S. Aleman
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD).This is a retrospective rev
Autor:
Jill R, Murrell, Addie May I, Nesbitt, Samuel W, Baker, Kieran B, Pechter, Jorune, Balciuniene, Xiaonan, Zhao, Elizabeth H, Denenberg, Elizabeth T, DeChene, Chao, Wu, Pushkala, Jayaraman, Kajia, Cao, Michael, Gonzalez, Marcella, Devoto, Alessandro, Testori, John D, Monos, Matthew C, Dulik, Laura K, Conlin, Minjie, Luo, Kristin, McDonald Gibson, Qiaoning, Guan, Mahdi, Sarmady, Elizabeth, Bhoj, Ingo, Helbig, Elaine H, Zackai, Emma C, Bedoukian, Alisha, Wilkens, Jennifer, Tarpinian, Kosuke, Izumi, Cara M, Skraban, Matthew A, Deardorff, Livija, Medne, Ian D, Krantz, Bryan L, Krock, Avni B, Santani
Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic alterations contributing to disease in 700 pediatric cases analyzed at the Children's Hospital o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d01581239134e015d1fc0a4434842a48
http://hdl.handle.net/11573/1631215
http://hdl.handle.net/11573/1631215