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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Among authors: fossati c. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
14q32.3-qter trisomic segment: a case report and literature review.
Villa N, Scatigno A, Redaelli S, Conconi D, Cianci P, Farina C, Fossati C, Dalprà L, Maitz S, Selicorni A. Villa N, et al. Among authors: fossati c. Mol Cytogenet. 2016 Aug 5;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016. Mol Cytogenet. 2016. PMID: 27499811 Free PMC article.
Williams-Beuren Syndrome and celiac disease: A real association?
Pangallo E, Parma B, Mariani M, Cianci P, De Paoli A, Maitz S, Fossati C, Panceri R, Agosti M, Selicorni A. Pangallo E, et al. Among authors: fossati c. Eur J Med Genet. 2020 Sep;63(9):103999. doi: 10.1016/j.ejmg.2020.103999. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622956
Sleep disorders in Cornelia de Lange syndrome.
Zambrelli E, Fossati C, Turner K, Taiana M, Vignoli A, Gervasini C, Russo S, Furia F, Masciadri M, Ajmone P, Kullman G, Canevini MP, Selicorni A. Zambrelli E, et al. Among authors: fossati c. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):214-21. doi: 10.1002/ajmg.c.31497. Epub 2016 May 2. Am J Med Genet C Semin Med Genet. 2016. PMID: 27133889
448 results