Search Results - "Campos‐Xavier, Belinda"

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty by Kumps, Camille, Stanovici, Julien, Chaibi, Emmelie, Campos‐Xavier, Belinda, Pavlidou, Despina Christina, Tran, Christel

Get full text

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia by Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos‐Xavier, Belinda, Superti‐Furga, Andrea

“…Cranio‐lenticulo‐sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family…”
Get full text

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina by Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa

“…We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in…”
Get full text

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene by Atallah, Isis, Quinodoz, Mathieu, Campos‐Xavier, Belinda, Peter, Virginie G., Fouriki, Athina, Bonvin, Christophe, Bottani, Armand, Kumps, Camille, Angelini, Federica, Bellutti Enders, Felicitas, Christen‐Zaech, Stéphanie, Rizzi, Mattia, Renella, Raffaele, Beck‐Popovic, Maja, Poloni, Claudia, Frossard, Valérie, Blouin, Jean‐Louis, Rivolta, Carlo, Riccio, Orbicia, Candotti, Fabio, Hofer, Michael, Unger, Sheila, Superti‐Furga, Andrea

“…Four individuals from two families presented with a multisystemic condition of suspected genetic origin that was diagnosed only after genome analysis. The main…”
Get full text

Identification of novel LFNG mutations in spondylocostal dysostosis by Otomo, Nao, Mizumoto, Shuji, Lu, Hsing-Fang, Takeda, Kazuki, Campos-Xavier, Belinda, Mittaz-Crettol, Lauréane, Guo, Long, Takikawa, Kazuharu, Nakamura, Masaya, Yamada, Shuhei, Matsumoto, Morio, Watanabe, Kota, Ikegawa, Shiro

“…Spondylocostal dysostosis (SCDO) is a heterogeneous group of skeletal disorders characterized by multiple segmentation defects involving vertebrae and ribs…”
Get full text

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome by Dikoglu, Esra, Alfaiz, Ali, Gorna, Maria, Bertola, Deborah, Chae, Jong Hee, Cho, Tae-Joon, Derbent, Murat, Alanay, Yasemin, Guran, Tulay, Kim, Ok-Hwa, Llerenar Jr, Juan C., Yamamoto, Guillerme, Superti-Furga, Giulio, Reymond, Alexandre, Xenarios, Ioannis, Stevenson, Brian, Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Unger, Sheila

“…Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single…”
Get full text

Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type by Campos‐Xavier, Belinda, Rogers, R. Curtis, Niel‐Bütschi, Florence, Ferreira, Catarina, Unger, Sheila, Spranger, Jürgen, Superti‐Furga, Andrea

Get full text

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders by Botto, Lorenzo D., Meeths, Marie, Campos‐Xavier, Belinda, Bergamaschi, Rosalba, Mazzanti, Laura, Scarano, Emanuela, Finocchi, Andrea, Cancrini, Caterina, Zirn, Birgit, Kühnle, Ingrid, Kramm, Christof Maria, Alanay, Yasemin, Jones, Wendy D., Irving, Melita, Sabir, Ataf, Henter, Jan‐Inge, Borgström, Birgit, Nordgren, Ann, Hammarsjö, Anna, Putti, Caterina, Mozzato, Chiara, Zuccarello, Daniela, Nishimura, Gen, Bonafè, Luisa, Grigelioniene, Giedre, Unger, Sheila, Superti‐Furga, Andrea

“…Bone dysplasias (osteochondrodysplasias) are a large group of conditions associated with short stature, skeletal disproportion, and radiographic abnormalities…”
Get full text

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies by Machol, Keren, Jain, Mahim, Almannai, Mohammed, Orand, Thibault, Lu, James T., Tran, Alyssa, Chen, Yuqing, Schlesinger, Alan, Gibbs, Richard, Bonafe, Luisa, Campos‐Xavier, Ana Belinda, Unger, Sheila, Superti‐Furga, Andrea, Lee, Brendan H., Campeau, Philippe M., Burrage, Lindsay C.

“…Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD “Sutcliffe” type, MIM 184255) is a rare skeletal dysplasia that presents with mild…”
Get full text

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation by Simsek-Kiper, Pelin Ozlem, Dikoglu, Esra, Campos-Xavier, Belinda, Utine, Gulen Eda, Bonafe, Luisa, Unger, Sheila, Boduroglu, Koray, Superti-Furga, Andrea

“…Camurati–Engelmann disease is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint…”
Get full text

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia by Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa

“…Glypicans are a family of glycosylphosphatidylinositol (GPI)-anchored, membrane-bound heparan sulfate (HS) proteoglycans. Their biological roles are only…”
Get full text

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant by Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J., Ghika, Joseph, Baumgartner, Matthias R., Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel

“…Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed…”
Get full text

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome by Dikoglu, Esra, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Campos-Xavier, Belinda, Boduroglu, Koray, Bonafé, Luisa, Superti-Furga, Andrea, Unger, Sheila

“…Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal…”
Get full text

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants by Atallah, Isis, Cisarova, Katarina, Guenot, Cécile, Dubruc, Estelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Unger, Sheila

“…Five percent of fetuses presents increased fetal nuchal translucency. It is a well-known marker for aneuploidy (T21, Turner syndrome) and a variety of…”
Get full text

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations by Bonafé, Luisa, Dermitzakis, Emmanouil T, Unger, Sheila, Greenberg, Cheryl R, Campos-Xavier, Belinda A, Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E, Superti-Furga, Andrea, Reymond, Alexandre

“…Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations…”
Get full text

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 by Ha-Vinh, Russia, Alanay, Yasemin, Bank, Ruud A., Campos-Xavier, Ana Belinda, Zankl, Andreas, Superti-Furga, Andrea, Bonafé, Luisa

“…Bruck syndrome (BS) is a recessively‐inherited phenotypic disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta…”
Get full text

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease by Bonafé, Luisa, Kariminejad, Ariana, Li, Jia, Royer‐Bertrand, Beryl, Garcia, Virginie, Mahdavi, Shokouholsadat, Bozorgmehr, Bita, Lachman, Ralph L., Mittaz‐Crettol, Lauréane, Campos‐Xavier, Belinda, Nampoothiri, Sheela, Unger, Sheila, Rivolta, Carlo, Levade, Thierry, Superti‐Furga, Andrea

“…Objective To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. Methods…”
Get full text

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life by Aubry-Rozier, Bérengère, Richard, Céline, Unger, Sheila, Hans, Didier, Campos-Xavier, Belinda, Schneider, Patrick, Paquier, Célia, Pasche, Jennifer, Bonafé, Luisa, Bregou, Aline, Swiss Medical Weekly

“…BACKGROUND This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working. Thereby, we…”
Get full text

Elevated lactate in Mauriac syndrome: still a mystery by Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel

“…The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy…”
Get full text

Correction to: Elevated lactate in Mauriac syndrome: still a mystery by Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel

Get full text