Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short StatureVasques, Gabriela A ; Amano, Naoko ; Docko, Ana J ; Funari, Mariana F. A ; Quedas, Elisangela P. S ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Hasegawa, Tomonobu ; Jorge, Alexander A. LThe journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1636-E1644 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
|
2 |
Material Type: Artigo
|
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian InsufficiencyFranca, Monica M ; Han, Xingfa ; Funari, Mariana F A ; Lerario, Antonio M ; Nishi, Mirian Y ; Fontenele, Eveline G P ; Domenice, Sorahia ; Jorge, Alexander A L ; Garcia-Galiano, David ; Elias, Carol F ; Mendonca, Berenice BThe journal of clinical endocrinology and metabolism, 2019-07, Vol.104 (7), p.2827-2841 [Periódico revisado por pares]Washington, DC: Endocrine SocietyTexto completo disponível |
|
3 |
Material Type: Artigo
|
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic ricketsColares Neto, G. P. ; Pereira, R. M. R. ; Alvarenga, J. C. ; Takayama, L. ; Funari, M. F. A. ; Martin, R. M.Osteoporosis international, 2017-05, Vol.28 (5), p.1685-1692 [Periódico revisado por pares]London: Springer LondonTexto completo disponível |
|
4 |
Material Type: Artigo
|
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan SyndromeMalaquias, Alexsandra C. ; Noronha, Renata M. ; Souza, Thaiana T.O. ; Homma, Thais K. ; Funari, Mariana F.A. ; Yamamoto, Guilherme L. ; Silva, Fernanda Viana ; Moraes, Michelle B. ; Honjo, Rachel S. ; Kim, Chong A. ; Nesi-França, Suzana ; Carvalho, Julienne A.R. ; Quedas, Elisangela P.S. ; Bertola, Debora R. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |
|
5 |
Material Type: Artigo
|
Disease gene characterization through large-scale co-expression analysisDay, Allen ; Dong, Jun ; Funari, Vincent A ; Harry, Bret ; Strom, Samuel P ; Cohn, Dan H ; Nelson, Stanley F Creighton, ChadPloS one, 2009-12, Vol.4 (12), p.e8491-e8491 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
|
6 |
Material Type: Artigo
|
Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization ProjectVega, D.M. ; Yee, L.M. ; McShane, L.M. ; Williams, P.M. ; Chen, L. ; Vilimas, T. ; Fabrizio, D. ; Funari, V. ; Newberg, J. ; Bruce, L.K. ; Chen, S.-J. ; Baden, J. ; Carl Barrett, J. ; Beer, P. ; Butler, M. ; Cheng, J.-H. ; Conroy, J. ; Cyanam, D. ; Eyring, K. ; Garcia, E. ; Green, G. ; Gregersen, V.R. ; Hellmann, M.D. ; Keefer, L.A. ; Lasiter, L. ; Lazar, A.J. ; Li, M.-C. ; MacConaill, L.E. ; Meier, K. ; Mellert, H. ; Pabla, S. ; Pallavajjalla, A. ; Pestano, G. ; Salgado, R. ; Samara, R. ; Sokol, E.S. ; Stafford, P. ; Budczies, J. ; Stenzinger, A. ; Tom, W. ; Valkenburg, K.C. ; Wang, X.Z. ; Weigman, V. ; Xie, M. ; Xie, Q. ; Zehir, A. ; Zhao, C. ; Zhao, Y. ; Stewart, M.D. ; Allen, J.Annals of oncology, 2021-12, Vol.32 (12), p.1626-1636 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
|
7 |
Material Type: Artigo
|
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndromeBOILEAU, Catherine ; GUO, Dong-Chuan ; BRAVERMAN, Alan C ; GRANDCHAMP, Bernard ; KWARTLER, Callie S ; GOUYA, Laurent ; SANTOS-CORTEZ, Regie Lyn P ; ABIFADEL, Marianne ; LEAL, Suzanne M ; MUTI, Christine ; SHENDURE, Jay ; GROSS, Marie-Sylvie ; HANNA, Nadine ; RIEDER, Mark J ; VAHANIAN, Alec ; NICKERSON, Deborah A ; MICHEL, Jean Baptiste ; JONDEAU, Guillaume ; MILEWICZ, Dianna M ; REGALADO, Ellen S ; DETAINT, Delphine ; LIMIN GONG ; VARRET, Mathilde ; PRAKASH, Siddharth K ; LI, Alexander H ; D'INDY, HyacinthaNature genetics, 2012-08, Vol.44 (8), p.916-921 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
|
8 |
Material Type: Artigo
|
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex DevelopmentGomes, Nathalia Lisboa ; Batista, Rafael Loch ; Nishi, Mirian Y ; Lerário, Antônio Marcondes ; Silva, Thatiana E ; de Moraes Narcizo, Amanda ; Benedetti, Anna Flávia Figueredo ; de Assis Funari, Mariana Ferreira ; Faria Junior, José Antônio ; Moraes, Daniela Rodrigues ; Quintão, Lia Mesquita Lousada ; Montenegro, Luciana Ribeiro ; Ferrari, Maria Teresa Martins ; Jorge, Alexander A ; Arnhold, Ivo J P ; Costa, Elaine Maria Frade ; Domenice, Sorahia ; Mendonca, Berenice BilharinhoThe journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (5), p.e1797-e1806 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
|
9 |
Material Type: Artigo
|
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeKim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R.F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Daniëlle G.M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris A. ; Sinnema, Margje ; Stumpel, Connie T.R.M. ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B.A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P.A. ; Stevens, Servi J.C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E.L.M. ; Ahn, Eun-Young ErinAmerican journal of human genetics, 2016-09, Vol.99 (3), p.711-719 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
10 |
Material Type: Artigo
|
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen GeneTompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |