Zobrazeno 1 - 10
of 71
pro vyhledávání: '"A. Belinda Campos-Xavier"'
Autor:
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy. More recently, lactic acidosis was recognized as an additional feature,
Externí odkaz:
https://doaj.org/article/0db8d6571bac4baba76e86c4d26f83f3
Autor:
Aurel T. Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, Olivier Braissant, Rosette Pedro, Andrea Superti-Furga, Francesca Amati, Christel Tran
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100746- (2021)
BackgroundCystationine β-synthase (CBS) deficiency is a genetic disorder characterized by severe hyperhomocysteinemia and thrombotic complications. In healthy individuals, physical exercise may result in a transient increase in plasma total homocyst
Externí odkaz:
https://doaj.org/article/d57fa4ed71bb4dddb93498affde7abd3
Autor:
Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1072-1080 (2019)
Abstract Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the susp
Externí odkaz:
https://doaj.org/article/691397fd3c9542e4ba75adb6c4e5b951
Autor:
Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100719- (2021)
Background: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of CYP27A1 wich leads to cholestanol accumulat
Externí odkaz:
https://doaj.org/article/961c52debf2a448091b9770630f548e3
Autor:
Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G. J. Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli
Publikováno v:
Genes, Vol 13, Iss 2, p 261 (2022)
Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gen
Externí odkaz:
https://doaj.org/article/6b7a5aeb58844965896222622ce2b3c2
Autor:
Bérengère Aubry-Rozier, Céline Richard, Sheila Unger, Didier Hans, Belinda Campos-Xavier, Patrick Schneider, Célia Paquier, Jennifer Pasche, Luisa Bonafé, Aline Bregou, Swiss Medical Weekly
Publikováno v:
Swiss Medical Weekly, Vol 150, Iss 2728 (2020)
BACKGROUND This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working. Thereby, we aim at fulfilling three main goals: offering thorough coordinated management for all, and
Externí odkaz:
https://doaj.org/article/a899f31ecddc4d7993b69e91d09f7f38
Autor:
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Publikováno v:
Genes, Vol 13, Iss 1, p 29 (2021)
The term “arthrogryposis” is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthro
Externí odkaz:
https://doaj.org/article/cc7dd1c81071473fb2c3de29aa3c0ceb
Autor:
Sébastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Publikováno v:
Genes, Vol 12, Iss 9, p 1397 (2021)
We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases
Externí odkaz:
https://doaj.org/article/4d33b36006b5463eb20d0e681a6927a0
Autor:
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/799866303c204db88d50c2ff306e0f63
Autor:
Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga
Publikováno v:
Genes, Vol 11, Iss 4, p 420 (2020)
Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 200
Externí odkaz:
https://doaj.org/article/e01a09399e43498ea54c77aa4fbbf304