Zobrazeno 1 - 10 of 66 pro vyhledávání: '"James B, Gibson"'
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Akademický článek
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Autor: Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v: Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological
Externí odkaz: https://doaj.org/article/d24638f2efce49c3b8ea400cc414438d
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2
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort
Autor: Tina, Duong, Priya S, Kishnani, Kristina, An Haack, Meredith C, Foster, James B, Gibson, Catherine, Wilson, Si Houn, Hahn, Richard, Hillman, David, Kronn, Nancy D, Leslie, Loren D M, Peña, Susan E, Sparks, David W, Stockton, Pranoot, Tanpaiboon, John W, Day
Publikováno v: Journal of Neuromuscular Diseases. 9:713-730
Background: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease receiving 4000L-production-scale alglucosidase alfa for 52 weeks. Objecti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61506990a232a0cdf6bf04e87c605f31
https://doi.org/10.3233/jnd-210784
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3
Akademický článek
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Autor: Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v: Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.
Externí odkaz: https://doaj.org/article/9deb62b3cdbb447d9597c9b55e926986
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4
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
Autor: David Kronn, Kristina An Haack, James B. Gibson, Si Houn Hahn, Meredith C. Foster, Raymond Y. Wang, Pranoot Tanpaiboon, David W. Stockton, Priya S. Kishnani, Barry J. Byrne, Steven D. Colan, Loren D.M. Pena, Judith Johnson, Susan Sparks, Nancy D. Leslie, Richard Hillman
Publikováno v: Cardiology in the young. 32(3)
Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c49cc75035795f7f43d93fd7526957
https://pubmed.ncbi.nlm.nih.gov/34420548
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5
Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child
Autor: James B. Gibson, Kevin O'Brien, Pamela Kempert, Nicholas Placone, Maritza E. Ruiz, Maki Okada, Roy L. Kao, Jacqueline Casillas, Carlos Maggi, Roy Nattiv, Stephanie H. Abrams, Natalie M. Gallant
Publikováno v: Journal of Pediatric Hematology/Oncology. 42:e114-e116
Idiopathic hyperammonemia is a rare, poorly understood, and often lethal condition that has been described in immunocompromised patients. This report describes an immunocompromised patient with acute myelogenous leukemia who developed persistent hype
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bed7356accbbb92dd67b2aed09469903
https://doi.org/10.1097/mph.0000000000001414
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9
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Autor: Yaping Yang, Sarah H. Elsea, Orly Elpeleg, Donna M. Muzny, Vinod Varghese, Hanoch Cassuto, Mohnish Suri, Sue Holder, AK Lampe, Weimin Bi, Wenmiao Zhu, Muriel Holder-Espinasse, Shane McKee, Christine M. Eng, Lihadh Al-Gazali, Vardiella Meiner, Aisha Al Shamsi, Kim L. McBride, Melissa Lees, June Anne Gold, Janet S. Soul, Soo Mi Park, Birgitta Bernhard, Sonal Mahida, Klaas J. Wierenga, Daryl A. Scott, Elizabeth Roeder, Kimberly Nugent, Vivienne McConnell, Jill M. Harris, Ed Blair, J. Lloyd Holder, Makanko Komara, Seema R. Lalani, Brett H. Graham, Andrea M. Lewis, Jill A. Rosenfeld, Ziva Ben-Neriah, Elizabeth A. Fanning, Richard A. Gibbs, Pengfei Liu, Lionel Van Maldergem, Fan Xia, Ludmila Matyakhina, James B. Gibson, Victoria Harrison, Julie Vogt, Francesco Vetrini, Rebecca O. Littlejohn, James R. Lupski, Ajith Kumar, Jennifer E. Posey, Margaret Marlatt, Joseph T. Alaimo, Matthew Pastore, Laurie H. Seaver, Lindsay C. Burrage
Publikováno v: Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifesta
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5169f87f1db2dfe5b8b3d0259aa069b
https://doi.org/10.1186/s13073-019-0623-0
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10
Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child
Autor: Nicholas, Placone, Roy L, Kao, Pamela, Kempert, Maritza E, Ruiz, Jacqueline N, Casillas, Maki, Okada, James B, Gibson, Carlos, Maggi, Kevin, O'Brien, Roy, Nattiv, Natalie M, Gallant, Stephanie H, Abrams
Publikováno v: Journal of pediatric hematology/oncology. 42(2)
Idiopathic hyperammonemia is a rare, poorly understood, and often lethal condition that has been described in immunocompromised patients. This report describes an immunocompromised patient with acute myelogenous leukemia who developed persistent hype
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d51d1fe5ef748683cc4615514170af36
https://pubmed.ncbi.nlm.nih.gov/30789458
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