Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Carlos R Ferreira"'
Autor:
Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessi
Externí odkaz:
https://doaj.org/article/cd8c2685876a4e608d9abc0c70fac25e
Autor:
Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background and importance Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infanc
Externí odkaz:
https://doaj.org/article/2391a5ad25bb493fb9a27fe1f7e22717
Autor:
Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 67-74 (2021)
Abstract Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identific
Externí odkaz:
https://doaj.org/article/3aa1ce10246a476c8e42827109fe6a4c
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Autor:
Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-35 (2021)
Abstract Background The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (coll
Externí odkaz:
https://doaj.org/article/2ede3e14d0294477bf599a788b337354
Autor:
Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short
Externí odkaz:
https://doaj.org/article/bcbea1c6277843ad8b3b5f6a3d62676e
Autor:
Howard J. Li, Catherine Groden, Melanie P. Hoenig, Evan C. Ray, Carlos R. Ferreira, Willam Gahl, Danica Novacic
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background 17q12 deletion syndrome encompasses a broad constellation of clinical phenotypes, including renal magnesium wasting, maturity-onset diabetes of the young (MODY), renal cysts, genitourinary malformations, and neuropsychiatric illne
Externí odkaz:
https://doaj.org/article/26bceb58cbcb42f3ad1c26abbf894b26
Autor:
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with
Externí odkaz:
https://doaj.org/article/2275c46d50974e9991a6c7d018a72d18
Autor:
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga
Publikováno v:
American Journal of Medical Genetics Part A. 191:1164-1209
ispartof: AMERICAN JOURNAL OF MEDICAL GENETICS PART A status: Published online
Autor:
Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background DYRK1A‐Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected in
Externí odkaz:
https://doaj.org/article/06654f43af104ad8bb6508fad2dfb28f
Autor:
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R. Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M. Krawitz, Marius Kuhn, Johannes R. Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K. Pal, Rafał Płoski, Oliver W. Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P.A. Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C. Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini
Publikováno v:
Genetics in Medicine, 25(1), 37-48. Nature Publishing Group
PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to b