Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Esperanza Font Montgomery"'
Autor:
Miguel Chuquilin, M.D., Raghav Govindarajan, M.D., Dawn Peck, M.S., Esperanza Font Montgomery, M.D.
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 85-86 (2016)
Externí odkaz:
https://doaj.org/article/cb48af46eacb47f3a8b01308dfa8f50a
Autor:
Meral Gunay-Aygun, Nehna Abdul Majeed, Linda Lukose, Theo Heller, Joy Bryant, Esperanza Font-Montgomery, Peter L. Choyke, Peter Veppumthara, Ismail B. Turkbey, William A. Gahl
Publikováno v:
Mol Genet Metab
Background and objectives We have previously published the characteristics of kidney and liver disease in a cohort of 73 individuals with molecularly confirmed autosomal recessive polycystic kidney disease-congenital hepatic fibrosis, based upon cros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965d7bd92f4d9f7df58609835bfd92b6
https://doi.org/10.1016/j.ymgme.2020.08.006
https://doi.org/10.1016/j.ymgme.2020.08.006
Autor:
Thomas Dierks, Laura Adang, Thiago Oliveira Silva, Mauricio De Castro, Rebecca C. Ahrens-Nicklas, Klaus Harzer, Lars Schlotawa, Esperanza Font Montgomery, Orna Staretz-Chacham, Karthikeyan Radhakrishnan, Carrie Costin, Ida Vanessa Doederlein Schwartz, Samuel Groeschel, Christiane Kehrer, Jutta Gärtner
Publikováno v:
Journal of Inherited Metabolic Disease
BACKGROUND: Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical cou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c8a336b88534d970fef73e7b46a6a0
https://doi.org/10.1002/jimd.12298
https://doi.org/10.1002/jimd.12298
Autor:
Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
Publikováno v:
Journal of medical genetics.
PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351
https://pubmed.ncbi.nlm.nih.gov/35790351
Autor:
Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
BackgroundVariants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159
https://hal.science/hal-03998194/document
https://hal.science/hal-03998194/document
Autor:
Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen
Publikováno v:
Journal of medical genetics. 59(7)
Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de08ea94e26cd350b69b4c4356e5bd3
https://pubmed.ncbi.nlm.nih.gov/34321324
https://pubmed.ncbi.nlm.nih.gov/34321324
Autor:
Meghan Strenk, Dawn Peck, Dimitar Gavrilov, Dietrich Matern, Piero Rinaldo, Esperanza Font-Montgomery, Jennifer L. Gannon, Devin Oglesbee, Tracy Klug, Amy L. White, Bryce A. Heese, Silvia Tortorelli, April Studinski, Jennifer Burton, Gisele Pino, Kimiyo Raymond, Randi Gadea, George E. Hoganson
Publikováno v:
Molecular Genetics and Metabolism. 132:S23
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8d68b464df8ed8ef409c3e528e96552
https://doi.org/10.1016/s1096-7192(21)00120-7
https://doi.org/10.1016/s1096-7192(21)00120-7
Autor:
Gisele Pino, Meghan Strenk, Dimitar Gavrilov, Amy L. White, Sara Minnich, Dawn Peck, Jennifer L. Gannon, Piero Rinaldo, Anna Dennis, Bryce A. Heese, Sarah Viall, Devin Oglesbee, Esperanza Font-Montgomery, Silvia Tortorelli, Dietrich Matern, April Studinski, Kimiyo Raymond, Randi Gadea, Austin Hamm
Publikováno v:
Molecular Genetics and Metabolism. 132:S20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f263877ad52f176cce9a1a9e2f032ceb
https://doi.org/10.1016/s1096-7192(21)00115-3
https://doi.org/10.1016/s1096-7192(21)00115-3
Autor:
Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold
Publikováno v:
Molecular Genetics and Metabolism. 119:75-82
Introduction There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32be21d3dd8798aa4118a7a4fd6b6818
https://doi.org/10.1016/j.ymgme.2016.07.002
https://doi.org/10.1016/j.ymgme.2016.07.002
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 28-32 (2016)
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 28-32 (2016)
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy. A twenty year-old woman with bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede6e7fd88608ae2eb36b7bfa6b85c70
https://doi.org/10.1016/j.ymgmr.2016.06.004
https://doi.org/10.1016/j.ymgmr.2016.06.004