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Fingerprint Dive into the research topics where Paolo Bordogna is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Pseudohypoparathyroidism Medicine & Life Sciences
Fibrous Dysplasia of Bone Medicine & Life Sciences
Mosaicism Medicine & Life Sciences
Parathyroid Hormone Medicine & Life Sciences
Parathyroid Hormone-Related Protein Medicine & Life Sciences
Chromosomes, Human, Pair 2 Medicine & Life Sciences
Methylation Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 2016 2019

  • 42 Citations
  • 2 h-Index
  • 5 Article

2q37 deletions in patients with an albright hereditary osteodystrophy phenotype and PTH resistance

Elli, F. M., de Sanctis, L., Madeo, B., Maffini, M. A., Bordogna, P., Pirelli, A., Arosio, M. & Mantovani, G., Jan 1 2019, In : Frontiers in Endocrinology. 10, AUG, 604.

Research output: Contribution to journalArticle

Open Access
Phenotype
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Diagnostic Errors
Albright's hereditary osteodystrophy

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

Elli, F. M., Desanctis, L., Maffini, M. A., Bordogna, P., Tessaris, D., Pirelli, A., Arosio, M., Linglart, A. & Mantovani, G., Jan 7 2019, In : Clinical Epigenetics. 11, 1, 2.

Research output: Contribution to journalArticle

Open Access
Chromosomes, Human, Pair 2
Pseudohypoparathyroidism
Brachydactyly
Modifier Genes
Genes

Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR

Elli, F. M., de Sanctis, L., Bergallo, M., Maffini, M. A., Pirelli, A., Galliano, I., Bordogna, P., Arosio, M. & Mantovani, G., Sep 18 2019, In : Frontiers in Genetics. 10, 862.

Research output: Contribution to journalArticle

Open Access
Fibrous Dysplasia of Bone
Polymerase Chain Reaction
Alleles
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Ovarian Cysts
4 Citations (Scopus)
Mosaicism
Methylation
Uniparental Disomy
Germ Layers
Pseudohypoparathyroidism Type 1B
38 Citations (Scopus)

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Thiele, S., Mantovani, G., Barlier, A., Boldrin, V., Bordogna, P., De Sanctis, L., Elli, F. M., Freson, K., Garin, I., Grybek, V., Hanna, P., Izzi, B., Hiort, O., Lecumberri, B., Pereda, A., Saraff, V., Silve, C., Turan, S., Usardi, A., Werner, R. & 2 others, De Nanclares, G. P. & Linglart, A., Dec 1 2016, In : European Journal of Endocrinology. 175, 6, p. P1-P17

Research output: Contribution to journalArticle

Pseudohypoparathyroidism
Parathyroid Hormone-Related Protein
Parathyroid Hormone
Terminology
Epigenomics