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1 |
Material Type: Artigo
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[PROVISIONAL] Growth Hormone Insensitivity (Laron syndrome): report of a new family and review of Brazilian patientsVillela, Thais R. ; Freire, Bruna L. ; Braga, Nathalia T. P. ; Arantes, Rodrigo R. ; Funari, Mariana F. A. ; Jorge, Alexander A. L. ; Silva, Ivani N.Genetics and molecular biology, 2019 [Periódico revisado por pares]Sociedade Brasileira de GenéticaTexto completo disponível |
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Material Type: Artigo
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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 |
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3 |
Material Type: Artigo
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaPrenen, Jean ; Owsianik, Grzegorz ; Voets, Thomas ; Funari, Tara L ; Nelson, Stanley F ; Lachman, Ralph S ; Merriman, Barry ; Reyno, Soraya ; Vaglio, Alicia ; Cohn, Daniel H ; Funari, Vincent A ; Rock, Matthew J ; Rimoin, David L ; Nilius, Bernd ; Nagai, Toshiro ; Janssens, Annelies ; Wilcox, William R ; Quadrelli, Roberto ; Ikegawa, ShiroNature genetics, 2008-08, Vol.40 (8), p.999-1003 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencingFrança, M.M. ; Funari, M.F.A. ; Nishi, M.Y. ; Narcizo, A.M. ; Domenice, S. ; Costa, E.M.F. ; Lerario, A.M. ; Mendonca, B.B.Clinical genetics, 2018-02, Vol.93 (2), p.408-411 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profileNoronha, Renata M. ; Villares, Sandra M F ; Torres, Natalia ; Quedas, Elisangela P S ; Homma, Thais Kataoka ; Albuquerque, Edoarda V A ; Moraes, Michelle B ; Funari, Mariana F A ; Bertola, Debora R ; Jorge, Alexander A L ; Malaquias, Alexsandra CAmerican journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.774-780 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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6 |
Material Type: Artigo
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Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patientsFreire, Bruna L. ; Homma, Thais K. ; Funari, Mariana F.A. ; Lerario, Antônio M. ; Leal, Aline M. ; Velloso, Elvira D.R.P. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.European journal of medical genetics, 2018-03, Vol.61 (3), p.130-133 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
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7 |
Material Type: Artigo
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Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patientsVillela, Thais R ; Freire, Bruna L ; Braga, Nathalia T P ; Arantes, Rodrigo R ; Funari, Mariana F A ; Alexander, Jorge A L ; Silva, Ivani NGenetics and molecular biology, 2019-01, Vol.42 (4), p.e20180197-e20180197 [Periódico revisado por pares]Brazil: Sociedade Brasileira de GeneticaTexto completo disponível |
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8 |
Material Type: Artigo
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Long-range heterogeneity at the 3' ends of human mRNAsIseli, Christian ; Stevenson, Brian J ; de Souza, Sandro J ; Samaia, Helena B ; Camargo, Anamaria A ; Buetow, Kenneth H ; Strausberg, Robert L ; Simpson, Andrew J G ; Bucher, Philipp ; Jongeneel, C VictorGenome research, 2002-07, Vol.12 (7), p.1068-1074 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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9 |
Material Type: Artigo
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalyJEONG HO LEE ; HUYNH, My ; FUNARI, Vincent ; RUSS, Carsten ; GABRIEL, Stacey B ; MATHERN, Gary W ; GLEESON, Joseph G ; SILHAVY, Jennifer L ; KIM, Sangwoo ; DIARON-SALAZAR, Tracy ; HEIBERG, Andrew ; SCOTT, Eric ; BAFNA, Vineet ; HILL, Kiley J ; COLLAZO, AdrienneNature genetics, 2012-08, Vol.44 (8), p.941-945 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Novel SUZ12 mutations in Weaver‐like syndromeImagawa, Eri ; Albuquerque, Edoarda V.A. ; Isidor, Bertrand ; Mitsuhashi, Satomi ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Takata, Atsushi ; Miyake, Noriko ; Boguszewski, Margaret C.S. ; Boguszewski, César L. ; Lerario, Antonio M. ; Funari, Mariana A. ; Jorge, Alexander A.L. ; Matsumoto, NaomichiClinical genetics, 2018-11, Vol.94 (5), p.461-466 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |