Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Autor: Palagano E., Susani L., Menale C., Ramenghi U., Berger M., Uva P., Oppo M., Vezzoni P., Villa A., Sobacchi C.

Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal diseases with increased bone density that are often lethal if left untreated. A precise molecular classification is relevant for the patient's management, because i

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http://hdl.handle.net/11588/827763

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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Autor: Angius A; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy., Uva P; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Oppo M; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy., Buers I; Cells in Motion Cluster of Excellence, Münster University, Münster, Germany.; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Persico I; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy., Onano S; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy., Cuccuru G; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada.; Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada., Hulait G; Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada., Aubertin G; Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Biomedical Research Centre at Great Ormond Street Hospital, London, UK., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Annerén G; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden., Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden., Palomares-Bralo M; Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain., Santos-Simarro F; Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain., Cucca F; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy., Crisponi G; Clinica Sant'Anna, Cagliari, Italy., Rutsch F; Cells in Motion Cluster of Excellence, Münster University, Münster, Germany.; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Crisponi L; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.

Publikováno v: Clinical genetics [Clin Genet] 2019 May; Vol. 95 (5), pp. 607-614. Date of Electronic Publication: 2019 Mar 28.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Autor: Alves RM; Postgraduate Program in Interactive Processes of Organs and Systems - Federal University of Bahia, Salvador, Brazil.; Research group Epi-Genétic, Salvador, Bahia, Brazil., Uva P; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Veiga MF; Postgraduate Program in Interactive Processes of Organs and Systems - Federal University of Bahia, Salvador, Brazil.; EEG Service and Clinical Outpatient of Epilepsy, University Hospital Complex Professor Edgard Santos (C-HUPES), Federal University of Bahia, Salvador, Bahia, Brazil., Oppo M; Department of Biomedical Science, University of Sassari, Sassari, Italy., Zschaber FCR; Research group Epi-Genétic, Salvador, Bahia, Brazil., Porcu G; Research group Epi-Genétic, Salvador, Bahia, Brazil., Porto HP; Research group Epi-Genétic, Salvador, Bahia, Brazil., Persico I; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy., Onano S; Department of Biomedical Science, University of Sassari, Sassari, Italy.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy., Cuccuru G; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Atzeni R; Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy., Vieira LCN; Clinic Ponto Alto diagnostic by Image, São Marcos, Salvador, Bahia, Brazil., Pires MVA; Research group Epi-Genétic, Salvador, Bahia, Brazil.; Faculty of Medicine of the ABC, São Paulo, Brazil., Cucca F; Department of Biomedical Science, University of Sassari, Sassari, Italy.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy., Toralles MBP; Postgraduate Program in Interactive Processes of Organs and Systems - Federal University of Bahia, Salvador, Brazil., Angius A; Department of Biomedical Science, University of Sassari, Sassari, Italy. andrea.angius@irgb.cnr.it.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy. andrea.angius@irgb.cnr.it., Crisponi L; Department of Biomedical Science, University of Sassari, Sassari, Italy.; Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria di Cagliari, 09042, Monserrato, Cagliari, Italy.

Publikováno v: BMC medical genetics [BMC Med Genet] 2019 Jan 14; Vol. 20 (1), pp. 16. Date of Electronic Publication: 2019 Jan 14.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Autor: Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LME, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Apr 05; Vol. 102 (4), pp. 713.