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Author/Creator Mendonca, Berenice B

1. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD). Issue 2 (August 2016)

Authors:
Madeira, João L O; Jorge, Alexander A L; Martin, Regina M; Montenegro, Luciana R; Franca, Marcela M; Costalonga, Everlayny F; Correa, Fernanda A; Otto, Aline P; Arnhold, Ivo J P; Freitas, Helayne S; Machado, Ubiratan F; Mendonca, Berenice B; Carvalho, Luciani R
Journal:
European journal of endocrinology
Issue:
Volume 175:Issue 2(2016)
Page Start:
K7
Record Type:
Journal Article
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2. Biallelic and monoallelic ESR2 variants associated with 46, XY disorders of sex development. (July 2018)

Authors:
Baetens, Dorien; Güran, Tülay; Mendonca, Berenice B; Gomes, Nathalia L; De Cauwer, Lode; Peelman, Frank; Verdin, Hannah; Vuylsteke, Marnik; Van der Linden, Malaïka; Atay, Zeynep; Bereket, Abdullah; de Krijger, Ronald R; Preter, Katleen de; Domenice, Sorahia; Turan, Serap; Stoop, Hans; Looijenga, ...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 7(2018)
Page Start:
717
Record Type:
Journal Article
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4. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Issue 5 (May 2019)

Authors:
Nakaguma, Marilena; Correa, Fernanda A; Santana, Lucas S; Benedetti, Anna F F; Perez, Ricardo V; Huayllas, Martha K P; Miras, Mirta B; Funari, Mariana F A; Lerario, Antonio M; Mendonca, Berenice B; Carvalho, Luciani R S; Jorge, Alexander A L; Arnhold, Ivo J P
Journal:
Endocrine connections
Issue:
Volume 8:Issue 5(2019)
Page Start:
590
Record Type:
Journal Article
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5. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. (4th September 2017)

Authors:
Madeira, Joao LO; Nishi, Mirian Y; Nakaguma, Marilena; Benedetti, Anna F; Biscotto, Isabela Peixoto; Fernandes, Thamiris; Pequeno, Thiago; Figueiredo, Thalita; Franca, Marcela M; Correa, Fernanda A; Otto, Aline P; Abrão, Milena; Miras, Mirta B; Santos, Silvana; Jorge, Alexander AL; Costalonga, Ev...
Journal:
Clinical endocrinology
Issue:
Volume 87:Number 6(2017)
Page Start:
725
Record Type:
Journal Article
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6. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction. Issue 2 (August 2016)

Authors:
de Carvalho, Daniel F; Miranda, Mirela C; Gomes, Larissa G; Madureira, Guiomar; Marcondes, José A M; Billerbeck, Ana Elisa C; Rodrigues, Andresa S; Presti, Paula F; Kuperman, Hilton; Damiani, Durval; Mendonca, Berenice B; Bachega, Tania A S S
Journal:
European journal of endocrinology
Issue:
Volume 175:Issue 2(2016)
Page Start:
107
Record Type:
Journal Article
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7. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. (10th January 2018)

Authors:
Correa, Fernanda A.; Jorge, Alexander AL; Nakaguma, Marilena; Canton, Ana PM; Costa, Silvia S; Funari, Mariana F; Lerario, Antonio M; Franca, Marcela M; Carvalho, Luciani R; Krepischi, Ana CV; Arnhold, Ivo JP; Rosenberg, Carla; Mendonca, Berenice B
Journal:
Clinical endocrinology
Issue:
Volume 88:Number 3(2018)
Page Start:
425
Record Type:
Journal Article
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8. Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism. Issue 1 (January 2021)

Authors:
Rassi-Cruz, Marcela; Maria, Andrea G; Faucz, Fabio R; London, Edra; Vilela, Leticia A P; Santana, Lucas S; Benedetti, Anna Flavia F; Goldbaum, Tatiana S; Tanno, Fabio Y; Srougi, Vitor; Chambo, Jose L; Pereira, Maria Adelaide A; Cavalcante, Aline C B S; Carnevale, Francisco C; Pilan, Bruna; Bortol...
Journal:
Endocrine-related cancer
Issue:
Volume 28:Issue 1(2021)
Page Start:
1
Record Type:
Journal Article
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9. Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism. Issue 1 (January 2021)

Authors:
Rassi-Cruz, Marcela; Maria, Andrea G; Faucz, Fabio R; London, Edra; Vilela, Leticia A P; Santana, Lucas S; Benedetti, Anna Flavia F; Goldbaum, Tatiana S; Tanno, Fabio Y; Srougi, Vitor; Chambo, Jose L; Pereira, Maria Adelaide A; Cavalcante, Aline C B S; Carnevale, Francisco C; Pilan, Bruna; Bortol...
Journal:
Endocrine-related cancer
Issue:
Volume 28:Issue 1(2021)
Page Start:
1
Record Type:
Journal Article
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10. The phenotypic spectrum associated with OTX2 mutations in humans. Issue 1 (25th May 2021)

Authors:
Gregory, Louise C; Gergics, Peter; Nakaguma, Marilena; Bando, Hironori; Patti, Giuseppa; McCabe, Mark J; Fang, Qing; Ma, Qianyi; Ozel, Ayse Bilge; Li, Jun Z; Poina, Michele Moreira; Jorge, Alexander A L; Benedetti, Anna F Figueredo; Lerario, Antonio M; Arnhold, Ivo J P; Mendonca, Berenice B; Magh...
Journal:
European journal of endocrinology
Issue:
Volume 185:Issue 1(2021)
Page Start:
121
Record Type:
Journal Article
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