Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Debora Bertola"'
Autor:
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100843- (2024)
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA)
Externí odkaz:
https://doaj.org/article/eeb761d8dbb64f3f8ada3e518aeb0303
Autor:
Juan Llerena, Jr, Virginia Fano, Pablo Rosselli, Mariana del Pino, Cristina Valenzuela, Janeth Méndez, Nicolette Cavalcanti, Paula Thomazinho, Amanda Aragão, José Thomaz, Tom Butt, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Renée Shediac, Tatiana Magalhães, Debora Bertola, Chong Kim
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100261- (2023)
Externí odkaz:
https://doaj.org/article/b35af266ef1c40f58dfe076e08253473
Autor:
Gabriella S. P. Hsia, Camila M. Musso, Lucas Alvizi, Luciano A. Brito, Gerson S. Kobayashi, Rita C. M. Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M. Zechi-Ceide, Debora Bertola, Maria Rita Passos-Bueno
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Repeats in coding and non-coding regions have increasingly been associated with many human genetic disorders, such as Richieri-Costa-Pereira syndrome (RCPS). RCPS, mostly characterized by midline cleft mandible, Robin sequence and limb defects, is an
Externí odkaz:
https://doaj.org/article/80bff2cc0c414e4aa2074f821e695a5d
Autor:
Maria Rita Passos‐Bueno, Debora Bertola, Dafne Dain Gandelman Horovitz, Victor Evangelista deFaria Ferraz, Luciano Abreu Brito
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 4, Pp 280-291 (2014)
Externí odkaz:
https://doaj.org/article/d568d10d2c9b478aaf73a11147cdd028
Autor:
Danielle P Moreira, Karina Griesi-Oliveira, Ana L Bossolani-Martins, Naila C V Lourenço, Vanessa N O Takahashi, Kátia M da Rocha, Eloisa S Moreira, Estevão Vadasz, Joanna Goes Castro Meira, Debora Bertola, Eoghan O'Halloran, Tiago R Magalhães, Agnes C Fett-Conte, Maria Rita Passos-Bueno
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e107705 (2014)
Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show inco
Externí odkaz:
https://doaj.org/article/d49f0148101a47f7a65531924806f78e
Autor:
Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli
Publikováno v:
PLoS Genetics, Vol 7, Iss 9, p e1002278 (2011)
The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC) and gives rise to the clinical phenotype of trigonocephaly. Deletions of chromosome 9p22.3 are well described as a cause of MC with variably penetrant midface h
Externí odkaz:
https://doaj.org/article/af1e6f0904f7438a819309fe39440171
Autor:
Lucy Shapiro, Maria Karantza, Carles Gaston-Massuet, Emily Cottrell, Jack Williams, Avinaash Maharaj, Debora Bertola, Helen L Storr, Martin O. Savage, Louise A. Metherell, Chizo Agwu, Sumana Chatterjee
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da776bfae9a1fcd72ac8b24d459a7082
https://doi.org/10.1530/endoabs.66.oc4.7
https://doi.org/10.1530/endoabs.66.oc4.7
Autor:
Stefano, Paolacci, Yun, Li, Emanuele, Agolini, Emanuele, Bellacchio, Carlos E, Arboleda-Bustos, Dido, Carrero, Debora, Bertola, Lihadh, Al-Gazali, Mariel, Alders, Janine, Altmüller, Gonzalo, Arboleda, Filippo, Beleggia, Alessandro, Bruselles, Andrea, Ciolfi, Gabriele, Gillessen-Kaesbach, Thomas, Krieg, Shehla, Mohammed, Christian, Müller, Antonio, Novelli, Jenny, Ortega, Adrian, Sandoval, Gloria, Velasco, Gökhan, Yigit, Humberto, Arboleda, Carlos, Lopez-Otin, Bernd, Wollnik, Marco, Tartaglia, Raoul C, Hennekam
Publikováno v:
Journal of medical genetics. 55(12)
Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04704504a1d38796bd3651eaa0a0f681
https://pubmed.ncbi.nlm.nih.gov/30323018
https://pubmed.ncbi.nlm.nih.gov/30323018
Autor:
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compres
Externí odkaz:
https://doaj.org/article/6cb774ce002b42298b2e3017d9bdf78b
Autor:
Carolina Malcher, Guilherme L. Yamamoto, Philip Burnham, Suzana A.M. Ezquina, Naila C.V. Lourenço, Sahilla Balkassmi, David S. Marco Antonio, Gabriella S.P. Hsia, Thomaz Gollop, Rita C. Pavanello, Marco Antonio Lopes, Egbert Bakker, Mayana Zatz, Débora Bertola, Iwijn De Vlaminck, Maria Rita Passos-Bueno
Publikováno v:
Genetics and Molecular Biology, Vol 41, Iss 3, Pp 545-554 (2018)
Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without pa
Externí odkaz:
https://doaj.org/article/0f1c794730e7424198ddd6bca1edfa34