Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Paciorkowski AR"'
Autor:
Sherr, Elliott, Paciorkowski, AR, Keppler-Noreuil, K, Robinson, L, Sullivan, C, Sajan, S, Christian, SL, Bukshpun, P, Gabriel, SB, Gleeson, JG, Sherr, EH
Publikováno v:
Sherr, Elliott; Paciorkowski, AR; Keppler-Noreuil, K; Robinson, L; Sullivan, C; Sajan, S; et al.(2013). Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/7v8035c6
Deletions of 16p13.11 have been associated with a variety of phenotypes, and have also been found in normal individuals. We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::3be6acf2c5955eb981520e44ceda37c7
http://www.escholarship.org/uc/item/7v8035c6
http://www.escholarship.org/uc/item/7v8035c6
Akademický článek
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Autor:
Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM, Paciorkowski, A R, Shafrir, Y, Hrivnak, J, Patterson, M C, Tennison, M B, Clark, H B, Gomez, C M
Publikováno v:
Neurology; 9/13/2011, Vol. 77 Issue 11, p1055-1060, 6p
Autor:
VHP, Leão, Aragão, MM, Pinho, RS, Hazin, AN, Paciorkowski, AR, Penalva de Oliveira, AC, Masruha, Marcelo Rodrigues
Publikováno v:
Current Neurology & Neuroscience Reports; Nov2020, Vol. 20 Issue 11, pN.PAG-N.PAG, 1p
Autor:
Paciorkowski AR, Darras BT
Publikováno v:
Neurology; 1/29/2013, Vol. 80 Issue 5, p426-427, 2p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Sau Wai Cheung, Katia Rocchetti, Chiara Pantaleoni, Pawel Stankiewicz, Maria Clara Bonaglia, Roberto Ciccone, Stefano D'Arrigo, Jeffrey R Hughes, Mary Bertrand, Thomy de Ravel, Nicola Brunetti-Pierri, Erika Della Mina, Christian P. Schaaf, Zhilian Xia, Naftha Jelluma, Orsetta Zuffardi, Renato Borgatti, Claudia A. L. Ruivenkamp, Parul Jayakar, Serena Belli, Alex R. Paciorkowski, V. Reid Sutton
Publikováno v:
European Journal of Human Genetics, 19(1), 102-107
Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and congenital anomalies, leading to the identification of several novel microdeletion and microduplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200fbc29c64dcd4037a7753420903068
https://hdl.handle.net/1887/108675
https://hdl.handle.net/1887/108675
Autor:
XiangWei W; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA., Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA., Liu N; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA., Xu Y; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Department of Neurology, The First Hospital of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China., Bhattacharya S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; School of Pharmaceutical and Health Sciences, Keck Graduate Institute, Claremont Colleges, Claremont, CA, 91711, USA., Shaulsky GH; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA., Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Chandler K; Manchester Centre for Genomic Medicine (MCGM), Manchester University NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK., Wang T; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA., Paciorkowski AR; University of Rochester Medical Center, Child Neurology, 601 Elmwood Ave., Rochester, NY, 14642, USA., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA., Zhang Y; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China., Wang S; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China., Wang Y; Department of Neurology, Center of Epilepsy, Beijing Key Laboratory of Neuromodulation, Institute of Sleep and Consciousness Disorders, Beijing Institute for Brain Disorders, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China., Zhai Q; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China., Fang F; Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100069, China., Leng J; Department Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450066, Henan, China.; Department of Endocrinology, Genetics and Metabolism, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Sichuan, 611731, China., Garber K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA., Jauss RT; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Benke TA; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu., Jiang Y; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. jiangyuwu@bjmu.edu.cn., Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.; Emory Neurodegenerative Disease Center, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2023 Nov 03; Vol. 80 (11), pp. 345. Date of Electronic Publication: 2023 Nov 03.
Autor:
Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA., Gable DL; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Child Neurology Residency Training Program, Boston Children's Hospital, Boston, Massachusetts, USA., Love-Nichols J; Department of Genetics, Seattle Children's Hospital, Seattle, Washington, USA., Tsao A; Marsh & McLennan Agency, White Plains, New York, USA., Rockowitz S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts, USA., Sliz P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Bastianelli L; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA., Coulter D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Davidson E; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, USA., DeGusmao C; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Fogelman D; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA., Huth K; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Marshall P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Nimec D; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA., Sanders JS; Department of Neurology, Denver Children's Hospital, Denver, Colorado, USA., Shore BJ; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA., Snyder B; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA., Stone SSD; Department of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts, USA., Ubeda A; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA., Watkins C; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA., Berde C; Department of Anesthesiology, Boston Children's Hospital, Boston, Massachusetts, USA., Bolton J; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Brownstein C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Costigan M; Department of Neurobiology, Boston Children's Hospital, Boston, Massachusetts, USA., Ebrahimi-Fakhari D; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Lai A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., O'Donnell-Luria A; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Paciorkowski AR; Departments of Neurology, Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York, USA., Pinto A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Pugh J; Department of Neurology, Bernard and Millie Duker Children's Hospital, Albany Medical Center, Albany, New York, USA., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Roe E; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Swanson L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Kruer MC; Department of Neurology and Pediatrics, Phoenix Children's Hospital, Phoenix, Arizona, USA., Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Feb; Vol. 9 (2), pp. 193-205. Date of Electronic Publication: 2022 Jan 24.
Autor:
Masten MC; Department of Neurology, University of Rochester, Rochester, New York, USA., Corre C; Department of Neurology, University of Rochester, Rochester, New York, USA., Paciorkowski AR; Department of Neurology, University of Rochester, Rochester, New York, USA., Vierhile A; Department of Neurology, University of Rochester, Rochester, New York, USA., Adams HR; Department of Neurology, University of Rochester, Rochester, New York, USA., Vermilion J; Department of Neurology, University of Rochester, Rochester, New York, USA., Zimmerman GA; Department of Neurology, University of Rochester, Rochester, New York, USA., Augustine EF; Department of Neurology, University of Rochester, Rochester, New York, USA.; Kennedy Krieger Institute, Baltimore, Maryland, USA., Mink JW; Department of Neurology, University of Rochester, Rochester, New York, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1453-1462. Date of Electronic Publication: 2021 Sep 07.