Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Elisa PISANESCHI"'
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing i
Externí odkaz:
https://doaj.org/article/96cebae7c62045a88a31471616db7dd4
Autor:
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene‑Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger‑Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf‑Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/cc63cf2072d440f7ae2985dfe1cfb842
Autor:
Francesca Campi, Domenico Umberto De Rose, Flaminia Pugnaloni, Sara Ronci, Monica Calì, Stefano Pro, Daniela Longo, Giulia Lucignani, Laura Raho, Elisa Pisaneschi, Maria Cristina Digilio, Immacolata Savarese, Iliana Bersani, Paolina Giuseppina Amante, Marta Conti, Paola De Liso, Irma Capolupo, Annabella Braguglia, Carlo Gandolfo, Andrea Dotta
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundDespite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality and morbidity rates. Our aim was to evaluate the presentation and cli
Externí odkaz:
https://doaj.org/article/1dc7eb165c374610bb5176f5392d519a
Autor:
Roberta Rotunno, Andrea Diociaiuti, Elisa Pisaneschi, Claudia Carnevale, Marialisa Dentici, May El Hachem
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
Abstract Background Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined
Externí odkaz:
https://doaj.org/article/5e705dc59e8144b0a5f31011d477f10d
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
Autor:
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
Publikováno v:
Brain Sciences, Vol 13, Iss 11, p 1567 (2023)
POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classif
Externí odkaz:
https://doaj.org/article/54f9a683ac574063975c90826644ebbe
Autor:
Girolamo Mattioli, Andrea Diociaiuti, Sabrina Rossi, Giovanna Zambruno, Marcello Carlucci, Elisa Pisaneschi, May El Hachem
Publikováno v:
Acta Dermato-Venereologica, Vol 102 (2022)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/91a42ba3ff48438eba997d47a5774395
Autor:
Andrea Diociaiuti, Mario Cutrone, Roberta Rotunno, Rita De Vito, Iria Neri, Elisa Pisaneschi, May El Hachem
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-5 (2019)
Abstract Background Angioma serpiginosum is a rare vascular anomaly whose pathogenesis is still unknown. It is characterized by the onset of vascular reddish macules and papules during childhood, lesions are usually monolateral with a linear serpigin
Externí odkaz:
https://doaj.org/article/37f2adc876384c6abe7ce0f420fe2a79
Autor:
Andrea Diociaiuti, Roberta Rotunno, Elisa Pisaneschi, Claudia Cesario, Claudia Carnevale, Angelo Giuseppe Condorelli, Massimo Rollo, Stefano Di Cecca, Concetta Quintarelli, Antonio Novelli, Giovanna Zambruno, May El Hachem
Publikováno v:
Biomedicines, Vol 10, Iss 6, p 1460 (2022)
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study
Externí odkaz:
https://doaj.org/article/286a4664c31047ca98bd1ba1ccf12e52
Autor:
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 828-830 (2019)
Externí odkaz:
https://doaj.org/article/ab063084fde24753a9bf36cf044df4ce
Autor:
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-5 (2017)
Abstract Background Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion
Externí odkaz:
https://doaj.org/article/2ccd4c3236684cdfab430499f43bbaf8