Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Jennifer L Sloan"'
Autor:
Alexander Pemov, Heejong Sung, Paula L Hyland, Jennifer L Sloan, Sarah L Ruppert, Andrea M Baldwin, Joseph F Boland, Sara E Bass, Hyo Jung Lee, Kristine M Jones, Xijun Zhang, NISC Comparative Sequencing Program, James C Mullikin, Brigitte C Widemann, Alexander F Wilson, Douglas R Stewart
Publikováno v:
PLoS Genetics, Vol 10, Iss 10, p e1004575 (2014)
Neurofibromatosis type 1 (NF1) is an autosomal dominant, monogenic disorder of dysregulated neurocutaneous tissue growth. Pleiotropy, variable expressivity and few NF1 genotype-phenotype correlates limit clinical prognostication in NF1. Phenotype com
Externí odkaz:
https://doaj.org/article/61d966c166c5493f8b7e3ef1f0ceb36e
Autor:
Clara Hjalmarsson, Charlotte Backelin, Anders Thoren, Niklas Bergh, Jennifer L. Sloan, Irini Manoli, Charles P. Venditti, Göran Dellgren
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101089- (2024)
IntroductionCobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects. Severe
Externí odkaz:
https://doaj.org/article/d5ab508217ae419d8f2226a5d20d2f21
Autor:
Randy J. Chandler, Giovanni Di Pasquale, Eun-Young Choi, David Chang, Stephanie N. Smith, Jennifer L. Sloan, Victoria Hoffmann, Lina Li, John A. Chiorini, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 181-190 (2023)
Propionic acidemia (PA) is rare autosomal recessive metabolic disorder caused by defects in the mitochondrially localized enzyme propionyl-coenzyme A (CoA) carboxylase. Patients with PA can suffer from lethal metabolic decompensation and cardiomyopat
Externí odkaz:
https://doaj.org/article/c35059820a4742ec9fa25d51c2cda8e8
Autor:
Randy J. Chandler, Giovanni Di Pasquale, Jennifer L. Sloan, Samantha McCoy, Brandon T. Hubbard, Tina M. Kilts, Irini Manoli, John A. Chiorini, Charles P. Venditti
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 61-72 (2022)
Methylmalonic acidemia (MMA) is a severe and potentially lethal autosomal recessive inborn error of metabolism most frequently caused by mutations in the methylmalonyl-CoA mutase (MMUT) gene. Proof-of-concept adeno-associated virus (AAV) gene therapy
Externí odkaz:
https://doaj.org/article/5caff188f5664f588fdfedae48923440
Autor:
David Paz, Briana E. Pinales, Barbara S. Castellanos, Isaiah Perez, Claudia B. Gil, Lourdes Jimenez Madrigal, Nayeli G. Reyes-Nava, Victoria L. Castro, Jennifer L. Sloan, Anita M. Quintana
Publikováno v:
Differentiation. 131:74-81
Autor:
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficie
Externí odkaz:
https://doaj.org/article/17c6e9be84be4b0089b4bddb4ddd3fc2
Autor:
Irini Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra R. Pass, Jack Gagné, Camryn Hall, Susan Ferry, Carol Van Ryzin, Jennifer L. Sloan, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici, Charles P. Venditti
Publikováno v:
Journal of Inherited Metabolic Disease.
Autor:
Douglas R. Stewart, Eric Legius, Luc De Smet, Raf Sciot, Chyi-Chia Richard Lee, Lawrence Yao, Jennifer L. Sloan, Victor Mautner, Kristel Peeters, Eline Beert, Kathleen Claes, Meena Upadhyaya, Ludwine Messiaen, Alexander Pemov, Ophélia Maertens, Caroline Park, Hilde Brems
Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8536fc7dfef60248e9b409f1380755
https://doi.org/10.1158/0008-5472.22383468
https://doi.org/10.1158/0008-5472.22383468
Autor:
Douglas R. Stewart, Eric Legius, Luc De Smet, Raf Sciot, Chyi-Chia Richard Lee, Lawrence Yao, Jennifer L. Sloan, Victor Mautner, Kristel Peeters, Eline Beert, Kathleen Claes, Meena Upadhyaya, Ludwine Messiaen, Alexander Pemov, Ophélia Maertens, Caroline Park, Hilde Brems
Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that originate from the glomus body, a thermoregulatory shunt concentrated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fba75da6a413a1889550ffa28755e561
https://doi.org/10.1158/0008-5472.c.6500550
https://doi.org/10.1158/0008-5472.c.6500550
Autor:
Douglas R. Stewart, Eric Legius, Luc De Smet, Raf Sciot, Chyi-Chia Richard Lee, Lawrence Yao, Jennifer L. Sloan, Victor Mautner, Kristel Peeters, Eline Beert, Kathleen Claes, Meena Upadhyaya, Ludwine Messiaen, Alexander Pemov, Ophélia Maertens, Caroline Park, Hilde Brems
Supplementary Figure Legend from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8936f9d328813c9131aebfe38aa7514f
https://doi.org/10.1158/0008-5472.22383465
https://doi.org/10.1158/0008-5472.22383465