Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Wendy E. Smith"'
Autor:
Rani H. Singh, Matthew J. Schultz, Gisele Pino, Piero Rinaldo, Brian C. Netzel, Kimiyo Raymond, Silvia Tortorelli, Devin Oglesbee, Dietrich Matern, Wendy E. Smith, Dimitar Gavrilov
Publikováno v:
Molecular Genetics and Metabolism. 130:247-254
Background The prognosis of patients with Hereditary Tyrosinemia Type 1 (HT-1) has greatly improved with early detection through newborn screening and the introduction of nitisinone (NTBC) therapy. A recent guideline calls for periodic monitoring of
Autor:
Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann
Publikováno v:
Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins
Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), sei
Autor:
Wendy E. Smith, Susan A. Berry, Beth Robinson, Can Ficicioglu, Alexander A. Vinks, George A. Diaz, Min Dong, Renee Perdok, Shawn E. McCandless, Jerry Vockley, Nicola Longo, Roberto T. Zori, Cary O. Harding, Uta Lichter-Konecki, Robert J. Holt
Publikováno v:
Molecular Genetics and Metabolism. 125:251-257
Glycerol phenylbutyrate (GPB) is approved in the US and EU for the chronic management of patients ≥2 months of age with urea cycle disorders (UCDs) who cannot be managed by dietary protein restriction and/or amino acid supplementation alone. GPB is
Autor:
Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
Publikováno v:
Am J Hum Genet
The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ab5c5b8f69c8ad3cfea21fe152f5f9
https://europepmc.org/articles/PMC8059373/
https://europepmc.org/articles/PMC8059373/
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
In the midst of the COVID‐19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient
Autor:
Nina S. Ma, Wyeth W. Wasserman, Wendy E. Smith, C. van Karnebeek, A. Sun, Cynthia M. Powell, Jennifer L. Fish, Louise C. Wilson, Yuri A. Zarate, J. Allgove, Michelle Steinraths, Benjamin Jacobs, E.L. Wakeling, Allison Matthews, C. Brain
Publikováno v:
Clinical Genetics. 93:588-594
SATB2-associated syndrome (SAS) is a rare disorder caused by alterations in the special AT-rich sequence-binding protein 2 (SATB2). Skeletal abnormalities such as tibial bowing, osteomalacia, osteopenia or osteoporosis have been reported suggesting a
Autor:
Brynn Lape, Karen W. Gripp, Alex R. Paciorkowski, Wen-Hann Tan, Margot R.F. Reijnders, Diana Baralle, Bo Hoon Lee, Christopher J. Stodgell, Richard J. Leventer, Chin-To Fong, Wendy E. Smith, David Hunt, Eric D. Marsh, Emily Tuttle, Loisa Bennetto, Ahm M. Huq, Kelly Q. Minks, Stephanie A. Coury, Rupal I. Mehta, Orestes Solis, Oluwatobi Abubakare, Jennifer M. Kwon
Publikováno v:
American Journal of Medical Genetics. Part A, 176, 56-67
American Journal of Medical Genetics. Part A, 176, 1, pp. 56-67
American Journal of Medical Genetics. Part A, 176, 1, pp. 56-67
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals w
Autor:
Amelia Diplock, Wendy E. Smith, John E. Niederhuber, Jia Zhao, Thierry Vilboux, John F. Deeken, Natalie Hauser, Megan S. Kane, Darius Ebrahimi-Fakhari, Julie Muskett, Siddharth Srivastava
Publikováno v:
Neuropediatrics. 50(4)
Congenital disorders of autophagy are multisystem disorders with significant neurological involvement. Ectopic p-granules protein 5 (EPG5)-associated Vici syndrome is a prototypical congenital disorder of autophagy and presents with the cardinal feat
Autor:
Wendy E. Smith, Colleen Canavan, William J. Rhead, Renata C. Gallagher, William E. Berquist, Annette Feigenbaum, George A. Diaz, Derek Wong, Shawn E. McCandless, Dennis Bartholomew, Nicola Longo, Cary O. Harding, Roberto T. Zori, J. Lawrence Merritt, Robert J. Holt, Andreas Schulze, Uta Lichter-Konecki, Thomas Vescio, Susan A. Berry, Jerry Vockley
Publikováno v:
Molecular genetics and metabolism. 127(4)
Glycerol phenylbutyrate (GPB) is currently approved for use in the US and Europe for patients of all ages with urea cycle disorders (UCD) who cannot be managed with protein restriction and/or amino acid supplementation alone. Currently available data
Autor:
Dion F. Coakley, Bruce F. Scharschmidt, Sandesh C.S. Nagamani, Nicola Longo, Miguel Marino, A. Feigenbaum, Susan A. Berry, James Bartley, Masoud Mokhtarani, William E. Berquist, Andreas Schulze, Shawn E. McCandless, C. Le Mons, Wendy E. Smith, B. Lee, George A. Diaz, William J. Rhead, Renata C. Gallagher, Uta Lichter-Konecki, Richard Rowell, Cary O. Harding
Publikováno v:
Molecular Genetics and Metabolism. 117(1):27-32
Blood ammonia and glutamine levels are used as biomarkers of control in patients with urea cycle disorders (UCDs). This study was undertaken to evaluate glutamine variability and utility as a predictor of hyperammonemic crises (HACs) in UCD patients.