Black cartilage: Incidentally discovered articular ochronosis during arthroplasty

por Kumps, Camille, Stanovici, Julien, Chaibi, Emmelie, Campos‐Xavier, Belinda, Pavlidou, Despina Christina, Tran, Christel
Publicado 2021

Spinal cerebrotendinous xanthomatosis: A case report and literature review

por Atallah, Isis, Millán, Diego San, Benoît, Wicki, Campos-Xavier, Belinda, Superti-Furga, Andrea, Tran, Christel
Publicado 2021

Elevated lactate in Mauriac syndrome: still a mystery

por Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel
Publicado 2021

Correction to: Elevated lactate in Mauriac syndrome: still a mystery

por Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel
Publicado 2021

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Nove...

por Kumps, Camille, Campos-Xavier, Belinda, Hilhorst-Hofstee, Yvonne, Marcelis, Carlo, Kraenzlin, Marius, Fleischer, Nicole, Unger, Sheila, Superti-Furga, Andrea
Publicado 2020

Classical homocystinuria, is it safe to exercise?

por Tankeu, Aurel T., Van Winckel, Geraldine, Campos-Xavier, Belinda, Braissant, Olivier, Pedro, Rosette, Superti-Furga, Andrea, Amati, Francesca, Tran, Christel
Publicado 2021

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

por Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea
Publicado 2021

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

por 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
Publicado 2005

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

por 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
Publicado 2021

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

por 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
Publicado 2019

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

por Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Di Rocco, Maja, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2019

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

por Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G. J., Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2022

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

por Royer-Bertrand, Beryl, Castillo-Taucher, Silvia, Moreno-Salinas, Rodrigo, Cho, Tae-Joon, Chae, Jong-Hee, Choi, Murim, Kim, Ok-Hwa, Dikoglu, Esra, Campos-Xavier, Belinda, Girardi, Enrico, Superti-Furga, Giulio, Bonafé, Luisa, Rivolta, Carlo, Unger, Sheila, Superti-Furga, Andrea
Publicado 2015

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

por Pollazzon, Marzia, Caraffi, Stefano Giuseppe, Faccioli, Silvia, Rosato, Simonetta, Fodstad, Heidi, Campos-Xavier, Belinda, Soncini, Emanuele, Comitini, Giuseppina, Frattini, Daniele, Grimaldi, Teresa, Marinelli, Maria, Martorana, Davide, Percesepe, Antonio, Sassi, Silvia, Fusco, Carlo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2021

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

por Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda
Publicado 2019

Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome

por Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean‑Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, Candotti, Fabio
Publicado 2023

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome

por Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean-Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, Candotti, Fabio
Publicado 2023

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

por Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de Sousa, Sérgio B., Savarirayan, Ravi, Andreucci, Elena, Vikkula, Miikka, Garavelli, Livia, Pottinger, Caroline, Ogino, Toshihiko, Sakai, Akinori, Regazzoni, Bianca M., Wuyts, Wim, Sangiorgi, Luca, Pedrini, Elena, Zhu, Mei, Kozakewich, Harry P., Kasser, James R., Seidman, Jon G., Kurek, Kyle C., Warman, Matthew L.
Publicado 2011