Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum

Thatiana Evilen Da Silva; Nathalia Lisboa Gomes; Antonio Marcondes Lerário; Catherine Elizabeth Keegan; Mirian Yumi Nishi; Filomena Marino Carvalho; Eric Vilain; Hayk Barseghyanm; Alejandro Martinez-aguayo; María Verónica Forclaz; Regina Papazian; Leila Cristina Pedroso De Paula; Eduardo Corrêa Costa; Luciani Renata Carvalho; Alexander A Jorge; Felipe Elias; Rod Mitchell; Elaine Maria Frade Costa; Berenice Bilharinho Mendonca; Sorahia Domenice

doi:10.1210/jc.2019-00984

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum

Thatiana Evilen Da Silva, Nathalia Lisboa Gomes, Antonio Marcondes Lerário, Catherine Elizabeth Keegan, Mirian Yumi Nishi, Filomena Marino Carvalho, Eric Vilain, Hayk Barseghyanm, Alejandro Martinez-aguayo, María Verónica Forclaz, Regina Papazian, Leila Cristina Pedroso De Paula, Eduardo Corrêa Costa, Luciani Renata Carvalho, Alexander A Jorge, Felipe Elias, Rod Mitchell, Elaine Maria Frade Costa, Berenice Bilharinho Mendonca, Sorahia Domenice

Deanery of Clinical Sciences

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Journal of Clinical Endocrinology & Metabolism
Early online date	9 Jul 2019
DOIs	https://doi.org/10.1210/jc.2019-00984
Publication status	E-pub ahead of print - 9 Jul 2019

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Evilen Da Silva, T., Gomes, N. L., Lerário, A. M., Keegan, C. E., Nishi, M. Y., Carvalho, F. M., Vilain, E., Barseghyanm, H., Martinez-aguayo, A., Forclaz, M. V., Papazian, R., Pedroso De Paula, L. C., Costa, E. C., Carvalho, L. R., Jorge, A. A., Elias, F., Mitchell, R., Frade Costa, E. M., Mendonca, B. B., & Domenice, S. (2019). Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. Journal of Clinical Endocrinology & Metabolism. https://doi.org/10.1210/jc.2019-00984

Evilen Da Silva, Thatiana ; Gomes, Nathalia Lisboa ; Lerário, Antonio Marcondes ; Keegan, Catherine Elizabeth ; Nishi, Mirian Yumi ; Carvalho, Filomena Marino ; Vilain, Eric ; Barseghyanm, Hayk ; Martinez-aguayo, Alejandro ; Forclaz, María Verónica ; Papazian, Regina ; Pedroso De Paula, Leila Cristina ; Costa, Eduardo Corrêa ; Carvalho, Luciani Renata ; Jorge, Alexander A ; Elias, Felipe ; Mitchell, Rod ; Frade Costa, Elaine Maria ; Mendonca, Berenice Bilharinho ; Domenice, Sorahia. / Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. In: Journal of Clinical Endocrinology & Metabolism. 2019.

@article{323b03fac0a94af7a65b56a0141682e6,

title = "Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum",

author = "{Evilen Da Silva}, Thatiana and Gomes, {Nathalia Lisboa} and Ler{\'a}rio, {Antonio Marcondes} and Keegan, {Catherine Elizabeth} and Nishi, {Mirian Yumi} and Carvalho, {Filomena Marino} and Eric Vilain and Hayk Barseghyanm and Alejandro Martinez-aguayo and Forclaz, {Mar{\'i}a Ver{\'o}nica} and Regina Papazian and {Pedroso De Paula}, {Leila Cristina} and Costa, {Eduardo Corr{\^e}a} and Carvalho, {Luciani Renata} and Jorge, {Alexander A} and Felipe Elias and Rod Mitchell and {Frade Costa}, {Elaine Maria} and Mendonca, {Berenice Bilharinho} and Sorahia Domenice",

year = "2019",

month = jul,

day = "9",

doi = "10.1210/jc.2019-00984",

language = "English",

journal = "Journal of Clinical Endocrinology & Metabolism",

issn = "0021-972X",

publisher = "The Endocrine Society",

}

Evilen Da Silva, T, Gomes, NL, Lerário, AM, Keegan, CE, Nishi, MY, Carvalho, FM, Vilain, E, Barseghyanm, H, Martinez-aguayo, A, Forclaz, MV, Papazian, R, Pedroso De Paula, LC, Costa, EC, Carvalho, LR, Jorge, AA, Elias, F, Mitchell, R, Frade Costa, EM, Mendonca, BB & Domenice, S 2019, 'Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum', Journal of Clinical Endocrinology & Metabolism. https://doi.org/10.1210/jc.2019-00984

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. / Evilen Da Silva, Thatiana; Gomes, Nathalia Lisboa; Lerário, Antonio Marcondes; Keegan, Catherine Elizabeth; Nishi, Mirian Yumi; Carvalho, Filomena Marino; Vilain, Eric; Barseghyanm, Hayk; Martinez-aguayo, Alejandro; Forclaz, María Verónica; Papazian, Regina; Pedroso De Paula, Leila Cristina; Costa, Eduardo Corrêa; Carvalho, Luciani Renata; Jorge, Alexander A; Elias, Felipe; Mitchell, Rod; Frade Costa, Elaine Maria; Mendonca, Berenice Bilharinho; Domenice, Sorahia.

In: Journal of Clinical Endocrinology & Metabolism, 09.07.2019.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum

AU - Evilen Da Silva, Thatiana

AU - Gomes, Nathalia Lisboa

AU - Lerário, Antonio Marcondes

AU - Keegan, Catherine Elizabeth

AU - Nishi, Mirian Yumi

AU - Carvalho, Filomena Marino

AU - Vilain, Eric

AU - Barseghyanm, Hayk

AU - Martinez-aguayo, Alejandro

AU - Forclaz, María Verónica

AU - Papazian, Regina

AU - Pedroso De Paula, Leila Cristina

AU - Costa, Eduardo Corrêa

AU - Carvalho, Luciani Renata

AU - Jorge, Alexander A

AU - Elias, Felipe

AU - Mitchell, Rod

AU - Frade Costa, Elaine Maria

AU - Mendonca, Berenice Bilharinho

AU - Domenice, Sorahia

PY - 2019/7/9

Y1 - 2019/7/9

U2 - 10.1210/jc.2019-00984

DO - 10.1210/jc.2019-00984

M3 - Article

JO - Journal of Clinical Endocrinology & Metabolism

JF - Journal of Clinical Endocrinology & Metabolism

SN - 0021-972X

ER -