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1
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Vasques, 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. L

The journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1636-E1644 [Periódico revisado por pares]

United States: Endocrine Society

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2
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

Franca, 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 B

The journal of clinical endocrinology and metabolism, 2019-07, Vol.104 (7), p.2827-2841 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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3
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets
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Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets

Colares 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 London

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4
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Malaquias, 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, Switzerland

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5
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
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Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

Noronha, 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 C

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.774-780 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
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Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients

Freire, 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 SAS

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7
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
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Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

Villela, Thais R ; Freire, Bruna L ; Braga, Nathalia T P ; Arantes, Rodrigo R ; Funari, Mariana F A ; Alexander, Jorge A L ; Silva, Ivani N

Genetics and molecular biology, 2019-01, Vol.42 (4), p.e20180197-e20180197 [Periódico revisado por pares]

Brazil: Sociedade Brasileira de Genetica

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8
Disease gene characterization through large-scale co-expression analysis
Disease gene characterization through large-scale co-expression analysis
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Disease gene characterization through large-scale co-expression analysis

Day, Allen ; Dong, Jun ; Funari, Vincent A ; Harry, Bret ; Strom, Samuel P ; Cohn, Dan H ; Nelson, Stanley F Creighton, Chad

PloS one, 2009-12, Vol.4 (12), p.e8491-e8491 [Periódico revisado por pares]

United States: Public Library of Science

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9
Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project
Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project
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Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project

Vega, 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 Ltd

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10
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

BOILEAU, 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, Hyacintha

Nature genetics, 2012-08, Vol.44 (8), p.916-921 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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