Works matching AU Funari, Mariana F. A.

Results: 15

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Published in:

PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240795

By:

França, Monica M.;
Funari, Mariana F. A.;
Lerario, Antonio M.;
Santos, Mariza G.;
Nishi, Mirian Y.;
Domenice, Sorahia;
Moraes, Daniela R.;
Costalonga, Everlayny F.;
Maciel, Gustavo A. R.;
Maciel-Guerra, Andrea T.;
Guerra-Junior, Gil;
Mendonca, Berenice B.

Publication type:

Article

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Published in:

Clinical Endocrinology, 2018, v. 88, n. 3, p. 425, doi. 10.1111/cen.13535

By:

Correa, Fernanda A.;
Jorge, Alexander A. L.;
Nakaguma, Marilena;
Canton, Ana P. M.;
Costa, Silvia S.;
Funari, Mariana F.;
Lerario, Antonio M.;
Franca, Marcela M.;
Carvalho, Luciani R.;
Krepischi, Ana C. V.;
Arnhold, Ivo J. P.;
Rosenberg, Carla;
Mendonca, Berenice B.

Publication type:

Article

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

Published in:

2016

By:

Gkourogianni, Alexandra;
Andrew, Melissa;
Tyzinski, Leah;
Crocker, Melissa;
Douglas, Jessica;
Dunbar, Nancy;
Fairchild, Jan;
Funari, Mariana F A;
Heath, Karen E;
Jorge, Alexander A L;
Kurtzman, Tracey;
LaFranchi, Stephen;
Lalani, Seema;
Lebl, Jan;
Lin, Yuezhen;
Los, Evan;
Newbern, Dorothee;
Nowak, Catherine;
Olson, Micah;
Popovic, Jadranka

Publication type:

journal article

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

Published in:

2013

By:

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

Publication type:

Journal Article

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

Published in:

2010

By:

Scalco, Renata C;
Melo, Suzana S J;
Pugliese-Pires, Patricia N;
Funari, Mariana F A;
Nishi, Mirian Y;
Arnhold, Ivo J P;
Mendonca, Berenice B;
Jorge, Alexander A L

Publication type:

journal article

Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.

Published in:

European Journal of Endocrinology, 2023, v. 189, n. 3, p. 387, doi. 10.1093/ejendo/lvad128

By:

Dantas, Naiara C. B.;
Funari, Mariana F. A.;
Lerário, Antonio M.;
Andrade, Nathalia L. M.;
Rezende, Raíssa C.;
Cellin, Laurana P.;
Alves, Crésio;
Crisostomo, Lindiane G.;
Arnhold, Ivo J. P.;
Mendonca, Berenice;
Scalco, Renata C.;
Jorge, Alexander A. L.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 774, doi. 10.1002/ajmg.a.62039

By:

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

Publication type:

Article

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Published in:

2018

By:

Lessel, Davor;
Gehbauer, Christina;
Bramswig, Nuria C;
Schluth-Bolard, Caroline;
Venkataramanappa, Sathish;
Gassen, Koen L I van;
Hempel, Maja;
Haack, Tobias B;
Baresic, Anja;
Genetti, Casie A;
van Gassen, Koen L I;
Funari, Mariana F A;
Lessel, Ivana;
Kuhlmann, Leonie;
Simon, Ruth;
Liu, Pentao;
Denecke, Jonas;
Kuechler, Alma;
de Kruijff, Ineke;
Shoukier, Moneef

Publication type:

journal article

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

Published in:

Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2827, doi. 10.1210/jc.2018-02485

By:

Franca, Monica M.;
Xingfa Han;
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.

Publication type:

Article

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

Published in:

2019

By:

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

Publication type:

journal article

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

Published in:

2019

By:

Freire, Bruna L;
Homma, Thais K;
Funari, Mariana F A;
Lerario, Antônio M;
Vasques, Gabriela A;
Malaquias, Alexsandra C;
Arnhold, Ivo J P;
Jorge, Alexander A L

Publication type:

journal article

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Published in:

2017

By:

Vasques, Gabriela A;
Funari, Mariana F A;
Ferreira, Frederico M;
Aza-Carmona, Miriam;
Sentchordi-Montané, Lucia;
Barraza-García, Jimena;
Lerario, Antonio M;
Yamamoto, Guilherme L;
Naslavsky, Michel S;
Duarte, Yeda A O;
Bertola, Debora R;
Heath, Karen E;
Jorge, Alexander A L

Publication type:

journal article

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 8, p. 2105, doi. 10.1210/clinem/dgad028

By:

Fagundes, Gustavo F. C.;
Freitas-Castro, Felipe;
Santana, Lucas S.;
Afonso, Ana Caroline F.;
Petenuci, Janaina;
Funari, Mariana F. A.;
Guimaraes, Augusto G.;
Ledesma, Felipe L.;
Pereira, Maria Adelaide A.;
Victor, Carolina R.;
Ferrari, Marcela S. M.;
Coelho, Fernando M. A.;
Srougi, Victor;
Tanno, Fabio Y.;
Chambo, Jose L.;
Latronico, Ana Claudia;
Mendonca, Berenice B.;
Fragoso, Maria Candida B. V.;
Hoff, Ana O.;
Almeida, Madson Q.

Publication type:

Article

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 8, p. 1, doi. 10.1210/clinem/dgaa218

By:

Sentchordi-Montané, Lucía;
Benito-Sanz, Sara;
Aza-Carmona, Miriam;
Pereda, Arrate;
Parrón-Pajares, Manuel;
de la Torre, Carolina;
Vasques, Gabriela A.;
Funari, Mariana F. A.;
Travessa, André M.;
Dias, Patrícia;
Suarez-Ortega, Larisa;
González-Buitrago, Jesús;
Portillo-Najera, Nancy Elizabeth;
Llano-Rivas, Isabel;
Martín-Frías, María;
Ramírez-Fernández, Joaquín;
del Pozo, Jaime Sánchez;
Garzón-Lorenzo, Lucía;
Martos-Moreno, Gabriel A.;
Alfaro-Iznaola, Cristina

Publication type:

Article

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Published in:

2020

By:

Sentchordi-Montané, Lucía;
Benito-Sanz, Sara;
Aza-Carmona, Miriam;
Pereda, Arrate;
Parrón, Manuel;
de la Torre, Carolina;
Vasques, Gabriela A;
Funari, Mariana F A;
Travessa, André M;
Dias, Patrícia;
Suarez-Ortega, Larisa;
González-Buitrago, Jesús;
Portillo-Najera, Nancy Elizabeth;
Llano-Rivas, Isabel;
Martín-Frías, María;
Ramírez-Fernández, Joaquín;
Sánchez Del Pozo, Jaime;
Garzón-Lorenzo, Lucía;
Martos-Moreno, Gabriel A;
Alfaro-Iznaola, Cristina

Publication type:

journal article