Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Vernon Reid, Sutton"'
Autor:
Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)
Abstract Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasi
Externí odkaz:
https://doaj.org/article/7fd8ea3e8a5a439794ea10065835754b
Autor:
I-Wen Song, Sandesh C.S. Nagamani, Dianne Nguyen, Ingo Grafe, Vernon Reid Sutton, Francis H. Gannon, Elda Munivez, Ming-Ming Jiang, Alyssa Tran, Maegen Wallace, Paul Esposito, Salma Musaad, Elizabeth Strudthoff, Sharon McGuire, Michele Thornton, Vinitha Shenava, Scott Rosenfeld, Shixia Huang, Roman Shypailo, Eric Orwoll, Brendan Lee
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 7 (2022)
BACKGROUND Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI). Preclinical studies demonstrate that excessive TGF-β signaling is a pathogenic mechanism in OI. Here, we evaluated TGF-β signaling in children with OI and
Externí odkaz:
https://doaj.org/article/9348cb1c7256408f9c15e5c78a7a8c81
Autor:
Mohammadamin Najirad, Mang Shin Ma, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Jean-Marc Retrouvey, Members of the BBD, Shahrokh Esfandiari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Osteogenesis imperfecta (OI) affects dental and craniofacial development and may therefore impair Oral Health-Related Quality of Life (OHRQoL). However, little is known about OHRQoL in children and adolescents with OI. The aim of
Externí odkaz:
https://doaj.org/article/7757f1aa9be44808b7ed5357d4994963
Autor:
Jeffrey Trost, MD, Amjed Abu-Ghname, MD, Matthew J. Davis, BS, Nicholas Cen, BS, Diana M. Guillen, PA-C, Vernon Reid Sutton, MD, Claudia M.B. Carvalho, PhD, Renata Maricevich, MD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 8, Iss 9S, Pp 99-100 (2020)
Externí odkaz:
https://doaj.org/article/01ac42abfb544c72ba982f4929f5ce8a
Publikováno v:
Pediatric hematology and oncology.
This case reports concomitant use of enzyme and substrate reduction therapy to improve chemotherapy adherence in a pediatric patient diagnosed with Ewing sarcoma (ES) and type 1 Gaucher disease (GD). The 17-year-old female presented with 5 months of
Autor:
I-Wen Song, Sandesh C.S. Nagamani, Dianne Nguyen, Ingo Grafe, Vernon Reid Sutton, Francis H. Gannon, Elda Munivez, Ming-Ming Jiang, Alyssa Tran, Maegen Wallace, Paul Esposito, Salma Musaad, Elizabeth Strudthoff, Sharon McGuire, Michele Thornton, Vinitha Shenava, Scott Rosenfeld, Shixia Huang, Roman Shypailo, Eric Orwoll, Brendan Lee
Publikováno v:
The Journal of clinical investigation. 132(7)
BACKGROUNDCurrently, there is no disease-specific therapy for osteogenesis imperfecta (OI). Preclinical studies demonstrate that excessive TGF-β signaling is a pathogenic mechanism in OI. Here, we evaluated TGF-β signaling in children with OI and c
Autor:
Amjed Abu-Ghname, Vernon Reid Sutton, Renata Maricevich, Claudia M.B. Carvalho, Matthew J. Davis, Nicholas Cen, Jeffrey G. Trost, Diana M. Guillen
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 8, Iss 9S, Pp 99-100 (2020)
Plastic and Reconstructive Surgery Global Open
Plastic and Reconstructive Surgery Global Open
Autor:
Bonnie, McCann-Crosby, Frank Xavier, Placencia, Oluyemisi, Adeyemi-Fowode, Jennifer, Dietrich, Rachel, Franciskovich, Sheila, Gunn, Marni, Axelrad, Duong, Tu, David, Mann, Lefkothea, Karaviti, Vernon Reid, Sutton
Publikováno v:
Pediatric endocrinology reviews : PER. 16(1)
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing
Autor:
Dolores, Mullikin, Nishitha, Pillai, Rossana, Sanchez, Anne H, O'Donnell-Luria, Amy, Kritzer, Leyat, Tal, Mohammed, Almannai, Gerard T, Berry, Michael J, Gambello, Hong, Li, Brett, Graham, Lakshmi, Srivaths, Vernon Reid, Sutton, Amanda, Grimes
Publikováno v:
The Journal of pediatrics. 202
We describe 2 children with cobalamin G disease, a disorder of vitamin B
Autor:
Kristin G, Monaghan, Judith, Benkendorf, Athena M, Cherry, Susan J, Gross, C Sue, Richards, Vernon Reid, Sutton, Michael S, Watson
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 15(4)