Zobrazeno 1 - 10
of 31
pro vyhledávání: '"S, Pedori"'
Autor:
Marco Manfredi, Carlotta Spagnoli, Giancarlo Gargano, Francesco Di Dio, Daniele Frattini, S. Pedori
Publikováno v:
The Journal of International Medical Research
Journal of International Medical Research, Vol 48 (2020)
Journal of International Medical Research, Vol 48 (2020)
Bartter syndrome (BS) is a rare autosomal recessive renal tubular disorder characterized by acute electrolyte imbalance, and similarly, osmotic demyelination syndrome (ODS) is a rather rare complication occurring during electrolyte imbalance. The pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f23b78d48e77587a326fab0df18503
http://europepmc.org/articles/PMC7645388
http://europepmc.org/articles/PMC7645388
Autor:
Alessandra Vottero, Sandro Loche, Marco Cappa, Lucia Ghizzoni, S. Pedori, Sergio Bernasconi, Blandina Pagano, Marta Verna
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 91:1284-1287
Central precocious puberty (CPP), the onset of sexual development before age 8 in girls, reflects early activation of the hypothalamic-pituitary-gonadal axis and currently is treated with a gonadotropin-releasing hormone analog (GnRHa). One of the go
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1829a31cd3b713d4429a67d5fb103884
https://doi.org/10.1210/jc.2005-1693
https://doi.org/10.1210/jc.2005-1693
Autor:
Christiane Zweier, M Zollino, Livia Garavelli, Pastore G, P. Cerruti-Mainardi, M. Godi, Nicola Longo, S. Bernasconi, G. Neri, David Mowat, Raffaele Virdis, S. Pedori, Giacomo Banchini, Anita Rauch, S. Provera
Publikováno v:
Hormone Research in Paediatrics. 63:187-192
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61856ab6f7d367f3b99b015283f552a8
https://doi.org/10.1159/000085894
https://doi.org/10.1159/000085894
Autor:
Tiziana Galeazzi, Lucia Santoro, Simonetta Rosato, Lucia Padella, S. Pedori, Giancarlo Gargano, Livia Garavelli, Ivan Ivanovski, Lucia Zampini, Chiara Gelmini, Silvia Braibanti, Anita Wischmeijer, Sergio Bernasconi, Andrea Superti-Furga, Andrea Ballabio, Stefano Pepe, Orazio Gabrielli, Lorenzo Iughetti, Nives Melli, Daniele Frattini, Alexandra Iori
Publikováno v:
Italian journal of pediatrics, vol. 40, pp. 86
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47bc020478d39f849891db3a07597953
https://hdl.handle.net/11380/1066039
https://hdl.handle.net/11380/1066039
Autor:
L, Garavelli, S, Pedori, R, Dal Zotto, F, Franchi, M, Marinelli, G F, Croci, S, Bellato, A, Ammenti, R, Virdis, G, Banchini, A, Superti-Furga
Publikováno v:
Genetic counseling (Geneva, Switzerland). 17(4)
Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more ofte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c6ac1b87b7ad6e498ff3e58c9f313fa
https://pubmed.ncbi.nlm.nih.gov/17375532
https://pubmed.ncbi.nlm.nih.gov/17375532
Autor:
Livia, Garavelli, S, Pedori, C, Zanacca, G, Caselli, A, Loiodice, G, Mantovani, A, Ammenti, Raffaele, Virdis, G, Banchini
Publikováno v:
Acta bio-medica : Atenei Parmensis. 76(1)
Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::46d584e8f7191df73e738b01bfd9896d
https://pubmed.ncbi.nlm.nih.gov/16116826
https://pubmed.ncbi.nlm.nih.gov/16116826
Autor:
L, Garavelli, K, Leask, C, Zanacca, S, Pedori, G, Albertini, E, Della Giustina, G F, Croci, C, Magnani, G, Banchini, J, Clayton-Smith, M, Bocian, H, Firth, J A, Gold, J, Hurst
Publikováno v:
Genetic counseling (Geneva, Switzerland). 16(2)
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c5a713257206e715221265a7140f9e3
https://pubmed.ncbi.nlm.nih.gov/16080291
https://pubmed.ncbi.nlm.nih.gov/16080291
Autor:
L, Garavelli, P, Cerruti-Mainardi, R, Virdis, S, Pedori, G, Pastore, M, Godi, S, Provera, A, Rauch, C, Zweier, M, Zollino, G, Banchini, N, Longo, D, Mowat, G, Neri, S, Bernasconi
Publikováno v:
Hormone research. 63(4)
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3dac30ea6edd6277d78b420b765a2b75
https://pubmed.ncbi.nlm.nih.gov/15908750
https://pubmed.ncbi.nlm.nih.gov/15908750
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.