Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Silvia Ferranti"'
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Haberland syndrome or encephalocraniocutaneous lipomatosis is a rare ectomesodermal dysgenesis defined by the triad including ocular, skin, and central nervous system involvement, which is commonly unilateral. This disorder is attributed to a post-zy
Externí odkaz:
https://doaj.org/article/b199fa03c9e74f73ba056d93aaa499dd
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Haberland syndrome or encephalocraniocutaneous lipomatosis is a rare ectomesodermal dysgenesis defined by the triad including ocular, skin, and central nervous system involvement, which is commonly unilateral. This disorder is attributed to a post-zy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcc94e41aafdfa476585ee9b3d731360
http://europepmc.org/articles/PMC7982648
http://europepmc.org/articles/PMC7982648
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 42(2)
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. Epilepsy in Coffin-Siris syndrome has only occasionally been reported, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f43ac0e95c51b30d6053ff687e0797b1
https://pubmed.ncbi.nlm.nih.gov/33006724
https://pubmed.ncbi.nlm.nih.gov/33006724
We report the case of a 3.6-year-old male child who developed progressive hyposthenia of the left lower limb. Symptoms were preceded by rhinitis, malaise, and fever. Brain and spinal magnetic resonance imaging revealed diffuse signal abnormalities co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18030b6a8ea0193e38923f45f6daf8a1
http://hdl.handle.net/11365/1095770
http://hdl.handle.net/11365/1095770
Publikováno v:
Journal of Paediatrics and Child Health. 54:475-479
Intoxications, both accidental and intentional, are common in children and adolescents and often require hospitalisation and intensive treatment. Antiepileptic drugs are a possible cause of poisoning and intoxications because this category of medicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c1acc5a701a62d6113192e46339e61c
https://doi.org/10.1111/jpc.13833
https://doi.org/10.1111/jpc.13833
Publikováno v:
Neurological Sciences. 41:1605-1606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3198fb24c0c30923a8499be0f87900fe
https://doi.org/10.1007/s10072-019-04223-5
https://doi.org/10.1007/s10072-019-04223-5
Autor:
Maria Antonietta Mencarelli, Silvia Ferranti, Alessandra Renieri, Salvatore Grosso, Chiara Romano, Ilaria Longo
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 41(8)
The short arm of chromosome 17 is characterized by a high density of low copy repeats, creating the opportunity for non-allelic homologous recombination to occur. Microdeletions of the 17p13.3 region are responsible for neuronal migration disorders i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e56176c74d5e4296f8625a9e76ecc7
https://pubmed.ncbi.nlm.nih.gov/32323081
https://pubmed.ncbi.nlm.nih.gov/32323081
Autor:
Silvia Ferranti, Salvatore Grosso
Publikováno v:
Neonatology ISBN: 9783319181592
Neonatology
Neonatology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859364d85d915e4e6bfff9ba3afdec33
https://doi.org/10.1007/978-3-319-29489-6_281
https://doi.org/10.1007/978-3-319-29489-6_281
Intoxications, both accidental and intentional, are common in children and adolescents and often require hospitalisation and intensive treatment. Antiepileptic drugs are a possible cause of poisoning and intoxications because this category of medicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::41266e2212cc059c67fdc5ee87b9cf00
http://hdl.handle.net/11365/1095754
http://hdl.handle.net/11365/1095754
Autor:
Elena Andreucci, Chiara Romano, Gianluca Capecchi, Elisabetta Grande, Silvia Ferranti, Salvatore Grosso, Serena Ciabattoni
Publikováno v:
Journal of Genetic Syndromes & Gene Therapy.
Peters Plus Syndrome is a rare autosomic recessive disorder, clinically characterized by abnormal formation of various structures including anterior eye chamber, genitourinary tract, skeletal system and central nervous system. PPS is due to defective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4ae29c7c6431bdf44ab78ccb4dfe5f9
https://doi.org/10.4172/2157-7412.1000320
https://doi.org/10.4172/2157-7412.1000320