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Author/Creator Nakaguma, Marilena

1. 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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2. 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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3. 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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4. 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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