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Andrea Superti-Furga

Showing results (111-120 of 234) with videos related to

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American Journal of Medical Genetics. Part A|January 12, 2005
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesAndreas Zankl, Luitgard Neumann, Jaako Ignatius, et al.
Orphanet Journal of Rare Diseases|June 7, 2024
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertensionXhyljeta Luta, Fabio Zanchi, Marco Fresa, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
European Journal of Pediatrics|December 8, 2004
Mucolipidosis II presenting as severe neonatal hyperparathyroidismSheila Unger, David A Paul, Michelle C Nino, et al.
Biochemical Pharmacology|February 5, 2021
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteineChiara Paganini, Chiara Gramegna Tota, Luca Monti, et al.
Journal of Bone and Mineral Metabolism|June 28, 2018
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individualCamelia Voinea, Elena Gonzalez Rodriguez, Catherine Beigelman-Aubry, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revisionLuisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
Bone|November 26, 2013
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosisAlessandra Pangrazio, Alessandro Puddu, Manuela Oppo, et al.
American Journal of Medical Genetics. Part A|August 9, 2018
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
EMBO Molecular Medicine|February 18, 2011
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitorsJulie Deuquet, Ekkehart Lausch, Nicolas Guex, et al.
Pageof 24

Showing results (111-120 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|January 12, 2005
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesAndreas Zankl, Luitgard Neumann, Jaako Ignatius, et al.
Orphanet Journal of Rare Diseases|June 7, 2024
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertensionXhyljeta Luta, Fabio Zanchi, Marco Fresa, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
European Journal of Pediatrics|December 8, 2004
Mucolipidosis II presenting as severe neonatal hyperparathyroidismSheila Unger, David A Paul, Michelle C Nino, et al.
Biochemical Pharmacology|February 5, 2021
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteineChiara Paganini, Chiara Gramegna Tota, Luca Monti, et al.
Journal of Bone and Mineral Metabolism|June 28, 2018
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individualCamelia Voinea, Elena Gonzalez Rodriguez, Catherine Beigelman-Aubry, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Nosology and classification of genetic skeletal disorders: 2015 revisionLuisa Bonafe, Valerie Cormier-Daire, Christine Hall, et al.
Bone|November 26, 2013
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosisAlessandra Pangrazio, Alessandro Puddu, Manuela Oppo, et al.
American Journal of Medical Genetics. Part A|August 9, 2018
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
EMBO Molecular Medicine|February 18, 2011
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitorsJulie Deuquet, Ekkehart Lausch, Nicolas Guex, et al.
Pageof 24