• 5658 Citations
  • 43 h-Index
1970 …2020
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Fingerprint Dive into the research topics where Cesare Danesino is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Hereditary Hemorrhagic Telangiectasia Medicine & Life Sciences
Glycogen Storage Disease Type II Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Hemophagocytic Lymphohistiocytosis Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1970 2020

  • 5658 Citations
  • 43 h-Index
  • 208 Article
  • 4 Chapter
  • 2 Letter

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Khan, A. W., Minelli, A., Frattini, A., Montalbano, G., Bogni, A., Fabbri, M., Porta, G., Acquati, F., Pinto, R. M., Bergami, E., Mura, R., Pegoraro, A., Cesaro, S., Cipolli, M., Zecca, M., Danesino, C., Locatelli, F., Maserati, E., Pasquali, F. & Valli, R., Jan 2 2020, In : Molecular Cytogenetics. 13, 1, 1.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia

Ruiz-Llorente, L., Chiapparino, E., Plumitallo, S., Danesino, C., Bayrak-Toydemir, P., Pagella, F., Manfredi, G., Bernabeu, C., Jovine, L. & Olivieri, C., May 15 2019, In : Gene. 696, p. 33-39 7 p.

Research output: Contribution to journalArticle

Hereditary Hemorrhagic Telangiectasia
Zona Pellucida
Mutation
Type II Activin Receptors
Telangiectasis
8 Citations (Scopus)

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium, Mar 1 2019, In : The Lancet Respiratory Medicine. 7, 3, p. 227-238 12 p.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Pulmonary Hypertension
Meta-Analysis
Genotype
Histocompatibility Testing
1 Citation (Scopus)

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old

Cipolli, M., Tridello, G., Micheletto, A., Perobelli, S., Pintani, E., Cesaro, S., Maserati, E., Nicolis, E. & Danesino, C., Jan 1 2019, In : BMJ Open. 9, 1, e022617.

Research output: Contribution to journalArticle

Growth Charts
Weights and Measures
Body Mass Index
Parturition
Exocrine Pancreatic Insufficiency

Skin picking disorder in 97 Italian and Spanish Cri du chat patients

Spunton, M., Guala, A., Liverani, M. E., Medolago, L., Tognon, F., Casado, F., del Valle, M., Porras, J., Larrea, I., Porta, G., Albani, G., Nevado, J. & Danesino, C., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Skin
Cri-du-Chat Syndrome
Developmental Disabilities
Chromosomes, Human, Pair 5
Inborn Genetic Diseases