Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Martina Busè"'
Autor:
Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)
Abstract Background Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of
Externí odkaz:
https://doaj.org/article/1123334782094f0f92fb59aba56dd920
Autor:
Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully de
Externí odkaz:
https://doaj.org/article/01b5006b5d1d4f268118e73c35d37a3b
Autor:
Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-8 (2020)
Abstract Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead i
Externí odkaz:
https://doaj.org/article/1edf30cb3cce437ba19efd36ba60433e
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-4 (2018)
Abstract Background Inhaled nitric oxide (iNO) has been approved for the treatment of persistent pulmonary hypertension of the newborn (PPHN) in term and near-term newborns. Its role in the management of persistent pulmonary hypertension in preterm i
Externí odkaz:
https://doaj.org/article/231ac502ac7f4888bbaa3983bae2115a
Autor:
Martina Busè, Helenia C. Cuttaia, Daniela Palazzo, Marcella V. Mazara, Salvatrice A. Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-8 (2017)
Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism an
Externí odkaz:
https://doaj.org/article/19625540c407409691464d02ba39f10f
Autor:
Gloria Pelizzo, Aurora Puglisi, Maria Lapi, Maria Piccione, Federico Matina, Martina Busè, Giovanni Battista Mura, Giuseppe Re, Valeria Calcaterra
Publikováno v:
Case Reports in Pediatrics, Vol 2018 (2018)
The causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are not known, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency of the RERE gene might contri
Externí odkaz:
https://doaj.org/article/c7e3ba14c8fd4c50a5299720b55daeb3
Autor:
Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 780
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd33f5934c3c8e3e8343156e5263a947
https://pubmed.ncbi.nlm.nih.gov/35627165
https://pubmed.ncbi.nlm.nih.gov/35627165
Publikováno v:
Current medical research and opinion. 38(1)
In pediatric patients with Inflammatory Bowel Disease renal parenchymal disease is infrequent. There are only two reports about the association between IgA Nephropathy and Pediatric Crohn Disease. IgA Nephropathy is a rather uncommon complication of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902b8b093906dc79898892d700fa0f6c
https://pubmed.ncbi.nlm.nih.gov/34866503
https://pubmed.ncbi.nlm.nih.gov/34866503
Publikováno v:
Digestive and Liver Disease. 54:986-987
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02f8611972d2649ab5d1339ca4b7a65
https://doi.org/10.1016/j.dld.2021.03.025
https://doi.org/10.1016/j.dld.2021.03.025
Publikováno v:
Inflammatory Bowel Diseases. 27:e71-e73
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a27f2cc74b848821d6a82526db69c08
https://doi.org/10.1093/ibd/izab050
https://doi.org/10.1093/ibd/izab050