Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Juliana F. Mazzeu"'
Autor:
Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
Summary: Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia
Externí odkaz:
https://doaj.org/article/111938d44884445f92d7831c96a453cf
Autor:
Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante
Publikováno v:
Genetics and Molecular Biology, Vol 30, Iss 2, Pp 339-342 (2007)
Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the form
Externí odkaz:
https://doaj.org/article/3ea895b58729456c9d56df3febda9234
Autor:
Eliete Pardono, Juliana F. Mazzeu, Karina Lezirovitz, Maria Teresa B.M. Auricchio, Paula Iughetti, Rafaella M.P. Nascimento, Regina C. Mingroni-Netto, Paulo A. Otto
Publikováno v:
Genetics and Molecular Biology, Vol 29, Iss 4, Pp 601-604 (2006)
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present
Externí odkaz:
https://doaj.org/article/b238f0dc81c149b28f4296f915ae23cd
Autor:
Vanessa Sodré de Souza, Gabriela Corassa Rodrigues da Cunha, Beatriz R. Versiani, Claudiner Pereira de Oliveira, Maria Teresa Alves Silva Rosa, Silviene F. de Oliveira, Patricia N. Moretti, Juliana F. Mazzeu, Aline Pic-Taylor
Publikováno v:
Mol Syndromol
WAGR syndrome (Wilms' tumor, aniridia, genitourinary changes, and intellectual disability) is a contiguous gene deletion syndrome characterized by the joint deletion of PAX6 and WT1 genes, located in the short arm of chromosome 11. However, most dele
Autor:
Ana Caroline G. Gonçalves, Patricia N. Moretti, Mara S. Cordoba, Renata S. Oliveira, Fernanda S. C. Lopes, Silviene F. Oliveira, Aline Pic‐Taylor, Luiz Claudio Castro, Juliana F. Mazzeu
Publikováno v:
American Journal of Medical Genetics Part A. 188:1635-1638
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Human Mutation. 43
Autor:
Christopher M. Grochowski, Richard A. Gibbs, Jesper Eisfeldt, Anna Lindstrand, Juliana F. Mazzeu, James R. Lupski, Donna M. Muzny, Chaofan Zhang, Claudia M.B. Carvalho, V. Reid Sutton, Shalini N. Jhangiani, Janson White, Zeynep Coban Akdemir
Publikováno v:
Am J Med Genet A
Robinow syndrome (RS) is a genetically heterogeneous disorder characterized by skeletal dysplasia and a distinctive facial appearance. Previous studies have revealed locus heterogeneity with rare variants in DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A und
Autor:
Chaofan Zhang, V. Reid Sutton, Juliana F. Mazzeu, Roman J. Shypailo, Claudia M.B. Carvalho, Brian J. Shayota
Publikováno v:
American Journal of Medical Genetics Part A. 182:2632-2640
Robinow syndrome (RS) is a genetically heterogeneous skeletal dysplasia with recent reports suggesting an osteosclerotic form of the disease. We endeavored to investigate the full spectrum of skeletal anomalies in a genetically diverse cohort of RS p
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Contains fulltext : 252015.pdf (Publisher’s version ) (Open Access) Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89bd78d59d41fce955db143c3c377ec2
Autor:
Ricardo D. Coletta, Claudio Costa, Ana Carolina Acevedo, Shélida Vasconcelos Braz, Isabela Porto de Toledo, Juliana F. Mazzeu, Eliete Neves Silva Guerra, Hercílio Martelli-Júnior
Publikováno v:
Oral Diseases. 27:881-893
Objective The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF). Methods A comprehensive search of PubMed, LILACS, Livivo, Scopus, and Web of Science was conducted using key te