Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Serena Belli"'
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Autor: Donatella Milani, Maria Francesca Bedeschi, Roberto Ciccone, Alba Pilotta, Cristina Gervasini, Angelo Selicorni, Lidia Larizza, Gioacchino Scarano, Paola Castronovo, Federica Mottadelli, Serena Belli, Orsetta Zuffardi
Publikováno v: European Journal of Human Genetics. 18:768-775
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmorphisms, growth and psychomotor development delay, and skeletal defects. The known genetic causes are point mutations or deletions of the CREBBP (50-6
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8413c6eaa7b0342962af79017491dbe0
https://doi.org/10.1038/ejhg.2010.1
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Human chorionic gonadotropin stimulation gives evidence of differences in testicular steroidogenesis in Klinefelter syndrome, as assessed by liquid chromatography-tandem mass spectrometry
Autor: Uberto Pagotto, Flaminia Fanelli, Daniele Santi, A. R. M. Granata, Laura Roli, Marco Mezzullo, Vincenzo Rochira, Cesare Carani, Silvia Tagliavini, Serena Belli, Manuela Simoni, Enrico Dall'Olio, Renato Pasquali, E Leoni, C. Pelusi, Tommaso Trenti
Publikováno v: European journal of endocrinology. 174(6)
Background Men with Klinefelter syndrome (KS) show hypergonadotropic hypogonadism, but the pathogenesis of hypotestosteronemia remains unclear. Testicular steroidogenesis in KS men was evaluated over three decades ago after human chorionic gonadotrop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e42e50b236b7b7ad9e5fd37c2df160
https://pubmed.ncbi.nlm.nih.gov/27188454
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A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
Autor: Marina D'Alessio, Laura Ruzzi, Mari Pinola, Giovanna Zambruno, Laurent Gagnoux-Palacios, Guerrino Meneguzzi, Serena Belli
Publikováno v: Journal of Clinical Investigation. 99:2826-2831
The alpha6 integrin subunit participates in the formation of both alpha6beta1 and alpha6beta4 laminin receptors, which have been reported to play an important role in cell adhesion and migration and in morphogenesis. In squamous epithelia, the alpha6
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f830acf4ca3cc2ca1a4a444173a9ac
https://doi.org/10.1172/jci119474
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APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Autor: Dritan Agalliu, Ali H. Brivanlou, Ben A. Barres, Muhammad Wajid, Alessandra Baumer, Angela M. Christiano, Lynn Petukhova, Yutaka Shimomura, Alin Vonica, Albert Schinzel, Serena Belli, Victor Luria
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization. Using genetic linkage analysis, we mapped a new locus for the disease to chromosome 18p11.22, and identified a mutation (L
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba01f49e94e7c3a6fca00ece2dc82cd
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7
Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR
Autor: Vito Guarnieri, Michelina Coco, Paola Parrella, Vincenzo D'Angelo, Leopoldo Zelante, Serena Belli, Domenico Catapano, Giuseppe Pulcrano, Leonardo D'Agruma, Lucia Anna Muscarella
Publikováno v: Journal of Biomedicine and Biotechnology, Vol 2010 (2010)
Journal of Biomedicine and Biotechnology
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301981038a78289ba7e6a9e18cd77f94
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8
Genetic counseling for teratogenic risk due to exposure to medications: 89 pregnancies conceived during oral contraceptive use
Autor: Serena Belli, Alessia Favaro, Roberto Luongo, Brunilda Alushi, Matteo Bertelli, Luca Barcella, S. Mazzola
Publikováno v: American journal of medical genetics. Part A. (7)
Congenital malformations are relatively frequent (2% of the general population) but only a small proportion of them can be ascribed to medication exposure during pregnancy. Nevertheless for the purposes of accurate prenatal diagnosis monitoring and r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591ec2ded0d133efabd53875adbb4a7b
https://pubmed.ncbi.nlm.nih.gov/19504610
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Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay
Autor: Antonino Alberti, Marco Fichera, Donatella Greco, S. Amata, Michele Falco, Pinella Failla, Carmela Scuderi, Emanuela Avola, Serena Belli, John Tolmie, Corrado Romano
Coffin–Lowry syndrome (CLS; MIM #303600) is characterized by learning difficulties and dysmorphic traits in male patients and in some female carriers of the X-chromosome–linked gene mutation. The dysmorphic traits, skeletal abnormalities, and oth
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97d3c567af51334ea3fdcfee4df284b
http://hdl.handle.net/20.500.11769/29572
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