The effect of carriers' reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry

Autor: Federica Riccardi, Antonio Coppola, Gianna Franca Rivolta, Annalisa Matichecchia, Gabriele Quintavalle, Chiara Biasoli, Lelia Valdrè, Lydia Piscitelli, Antonio Percesepe, Annarita Tagliaferri

Publikováno v: Haemophilia : the official journal of the World Federation of HemophiliaREFERENCES. 28(2)

Haemophilias are X-linked inherited bleeding disorders, due to de novo F8/F9 gene variants in 30-50% of cases. The identification of causative variant in index cases (IC) is crucial for genetic counselling in related women. Over the last 20 years the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62eadebdd8e5c5bd0547228a190bc497
https://pubmed.ncbi.nlm.nih.gov/35060226

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

Autor: Paola Mozzoni, Antonio Percesepe, Livia Garavelli, Annalisa Matichecchia, Alessia Adorni, Francesco Bonatti, Francesco Pisani, Vera Uliana, Davide Martorana, Diana Carli, Claudio Graziano, Elena Boschi, Stefania Bigoni, Maria Gnoli

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 18; Issue 10; Pages: 2071
International Journal of Molecular Sciences, Vol 18, Iss 10, p 2071 (2017)

Neurofibromatosis type I, a genetic disorder due to mutations in the NF1 gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but, with the exception of whole gene deletions associated with a more severe phenotype, no s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f31c1187bbf7d487832afd2e64b19e
http://europepmc.org/articles/PMC5666753