Zobrazeno 1 - 10
of 12
pro vyhledávání: '"David F Rodriguez-Buritica"'
Autor:
Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A. Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologically associating do
Externí odkaz:
https://doaj.org/article/3554c83b75ce4cf485ca6c1f7161c979
Autor:
Nickolas J. Nahm, W. G. Stuart Mackenzie, William G. Mackenzie, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria Elena Serna, Cory J. Smid, Julie Hoover-Fong, Michael B. Bober
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from achondroplasia patient
Externí odkaz:
https://doaj.org/article/7fa1cb2ab8d747c08345b444e8a29eab
Autor:
Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu, John McGready
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal
Externí odkaz:
https://doaj.org/article/707aa9ca56ec4482a21feb500c1b0dd1
Autor:
Anjali Aggarwal, Hope Northrup, David F. Rodriguez-Buritica, S. Shahrukh Hashmi, Heather Saavedra
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria
Externí odkaz:
https://doaj.org/article/48a437062e4a498fa4c66df186527dc4
Autor:
Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell
Publikováno v:
Nutrients, Vol 13, Iss 11, p 3828 (2021)
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney,
Externí odkaz:
https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6
Autor:
Alla Vash-Margita, Katarzyna Szymanska-Vandendriessche, Kathryn Gunther, David F. Rodriguez-Buritica, Emily Christison-Lagay, Saurabh Saluja, Kutluk H. Oktay
Publikováno v:
Fertility and Sterility. 118:982-984
To describe an approach to fertility preservation by a multidisciplinary team of reproductive endocrinology and infertility, pediatric gynecology and surgery, and genetics experts via ovarian tissue harvesting and cryopreservation for a toddler with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e192f0383283a56e23d39d2d80bbd59e
https://doi.org/10.1016/j.fertnstert.2022.08.005
https://doi.org/10.1016/j.fertnstert.2022.08.005
Autor:
Elizabeth Langley, Laura S. Farach, Mary K. Koenig, Hope Northrup, David F. Rodriguez‐Buritica, Kate Mowrey
Publikováno v:
American Journal of Medical Genetics Part A. 188:1688-1692
NEXMIF pathogenic variants have been known to produce a wide spectrum of X-linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF-related disorders. Herein, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b0275640a32ac05a7dd0d9e1ba16f98
https://doi.org/10.1002/ajmg.a.62686
https://doi.org/10.1002/ajmg.a.62686
Autor:
Hope Northrup, Mary Kay Koenig, S. Shahrukh Hashmi, Allison R. Moats, Myla Ashfaq, Michael B. Bagg, Claire N. Singletary, David F Rodriguez-Buritica
Publikováno v:
Mitochondrion. 58:179-183
Diabetes and hyperglycemia are common features of mitochondrial disorders. This study investigates the frequency of non-iatrogenic hypoglycemia in individuals with these disorders. Of 116 patients, 22 (18.97%) experienced at least two episodes of hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1637f97bb32770afe9e0d28ca5638d2
https://doi.org/10.1016/j.mito.2021.03.002
https://doi.org/10.1016/j.mito.2021.03.002
Autor:
Bobby K. Brar, Michael B. Bober, Ethan Gough, S Shahrukh Hashmi, Jacqueline T. Hecht, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez – Buritica, Maria E. Serna, Cory Smid, Janet M. Legare, Julie E. Hoover - Fong
Publikováno v:
Genetics in Medicine. :100845
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cedf41809c8bbf80bcaf66efe399d0f8
https://doi.org/10.1016/j.gim.2023.100845
https://doi.org/10.1016/j.gim.2023.100845
Autor:
Hope Northrup, Mary E. Aronow, E. Martina Bebin, John Bissler, Thomas N. Darling, Petrus J. de Vries, Michael D. Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna C. Jansen, Sergiusz Jóźwiak, J. Chris Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley Pounders, Steven L. Roberds, David F. Rodriguez-Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth Anne Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M.P. Annear, Ute Bartels, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna Byars, Harry Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosmary Ekong, Kevin C. Ess, David N. Franz, Michael Frost, Zoë D.B. Fuchs, Elizabeth Gosnell, Lisa Guay-Woodford, Luciana Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John Hulbert, Anna Jansen, Simon R. Johnson, Bryan King, J. Christopher Kingswood, Mary Kay Koenig, Bruce Korf, David J. Kwiatkowski, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark D. Nellist, Finbar O'Callaghan, Uday Patel, E. Steve Roach, David Rodriguez-Buritica, Robb Romp, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Sahin, Julian Sampson, Joshua A. Samuels, Matthias Sauter, Catherine A. Smith, Keyomaurs Soltani, Shoba Srivastava, Clare Stuart, Joyce M.C. Teng, Elizabeth A. Thiele, Andrew Trout, Agnies van Eeghen, Stephanie Vanclooster, Henry Z. Wang, Mari Wataya-Kaneda, Patricia Witman, Tim Wright, Joyce Y. Wu, Lisa Young
Publikováno v:
Pediatric Neurology, 123, 50-66. Elsevier Inc.
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011
Background\ud Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8452fd0a03ea849d8963162c28fd10b8
https://pubmed.ncbi.nlm.nih.gov/34399110
https://pubmed.ncbi.nlm.nih.gov/34399110