Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Opitz G/BBB Syndrome"'
Akademický článek
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Akademický článek
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Autor:
Lucia Micale, Federica Russo, Martina Mascaro, Silvia Morlino, Grazia Nardella, Carmela Fusco, Luigi Bisceglia, Germana Meroni, Marco Castori
Publikováno v:
Pediatric research.
Background Loss-of-function variants in MID1 are the most common cause of Opitz G/BBB syndrome (OS). The interpretation of intronic variants affecting the splicing is a rising issue in OS. Methods Exon sequencing of a 2-year-old boy with OS showed th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ea20c14b0e27f2654e5f66a2893ba6
https://pubmed.ncbi.nlm.nih.gov/35953512
https://pubmed.ncbi.nlm.nih.gov/35953512
Autor:
Chiara Migliore, Anna Vendramin, Shane McKee, Paolo Prontera, Francesca Faravelli, Rani Sachdev, Patricia Dias, Martina Mascaro, Danilo Licastro, Germana Meroni
Publikováno v:
Genes; Volume 13; Issue 2; Pages: 252
Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, laryngo–tracheo–esophageal defects and hypospadias. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::351de3ab8b6b052109d250ee0254c85d
https://hdl.handle.net/11368/3009255
https://hdl.handle.net/11368/3009255
Autor:
Tia Gordon, Haowei Du, Elizabeth J. Bhoj, K Taylor Wild, James R. Lupski, Shalini N. Jhangiani, Daryl A. Scott, Jennifer E. Posey, Elaine H. Zackai
Publikováno v:
Am J Med Genet A
Congenital diaphragmatic hernias (CDH) confer substantial morbidity and mortality. Genetic defects, including chromosomal anomalies, copy number variants, and sequence variants are identified in ~30% of patients with CDH. A genetic etiology is not ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add127543c687372f62b2a6c7c90b6cb
https://europepmc.org/articles/PMC7988837/
https://europepmc.org/articles/PMC7988837/
Akademický článek
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Autor:
Ivan de Curtis, Mizuho Sakahara, Hirofumi Sakaguchi, Yuzuru Ninoyu, Takehiko Ueyama, Masaaki Kohta, Yoshitaka Hishikawa, Atsu Aiba, Takashi Nakamura, Eiji Kohmura, Hiroshi Kiyonari, Narantsog Choijookhuu, Yasuo Hisa, Naoaki Saito
Publikováno v:
Development. 144(10):1863-1875
Rac signaling impacts a relatively large number of downstream targets; however, few studies have established an association between Rac pathways and pathological conditions. In the present study, we generated mice with double knockout of Rac1 and Rac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5dcb8ea0c16e8780c1f101bc71a3047
https://hdl.handle.net/20.500.14094/90004351
https://hdl.handle.net/20.500.14094/90004351
Publikováno v:
Multidisciplinary Management of Pediatric Voice and Swallowing Disorders ISBN: 9783030261900
Children may present to voice, swallow, and aerodigestive clinics with known syndrome diagnoses, or in some cases speech-language pathologists and otolaryngologists may be the first medical professionals to note a constellation of symptoms that lead
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2531d787595d819692d490e6aea26f68
https://doi.org/10.1007/978-3-030-26191-7_33
https://doi.org/10.1007/978-3-030-26191-7_33
Publikováno v:
Special Care in Dentistry. 37:102-106
Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism, craniofacial deformities, and dysphagia. This study reports the clinical features of Optiz syndrome and its impor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbf569851dad4021701551bc3b80671a
https://doi.org/10.1111/scd.12200
https://doi.org/10.1111/scd.12200
Autor:
Rayane de Oliveira Pinto, Daniela Gamba Garib, Gisele da Silva Dalben, Antonio Richieri-Costa, Luís Antônio de Assis Taveira
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Universidade de São Paulo (USP)
instacron:USP
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Made available in DSpace on 2019-10-06T16:44:04Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-01-01 Objective: To compare the cephalometric characteristics of patients with and without Opitz G/BBB syndrome type I. Design: Cross-sectional, ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2888a3c879bf1abe78877df2e3ab7215