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111 . Academic Journal
E74 LIKE ETS TRANSCRIPTION FACTOR 4 ( ELF4) IS A CANDIDATE GENE FOR X- LINKED FAMILIAL ISOLATED GROWTH HORMONE DEFICIENCY BY WHOLE EXOME SEQUENCING
저자
by
Correa, Fernanda A.
;
Fang, Qing
;
Lerario, Antonio M.
;
Ma, Qianyi
;
Ozel, Bilge A.
, et al.
소스
HORMONE RESEARCH IN PAEDIATRICS
; 2017, 88 p290-p291, 2p. Supplement: 1
Scopus
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117 . Academic Journal
MOLECULAR ANALYSIS OF BRAZILIAN PATIENTS WITH COMBINED PITUITARY HORMONE DEFICIENCY (CPHD) AND ORTHOTOPIC POSTERIOR PITUITARY LOBE (OPP) REVEALS 8 DIFFERENT PROP1 ALTERATIONS WITH THREE NOVEL MUTATIONS
저자
by
Madeira, Joao L. O.
;
Nishi, Mirian Y.
;
Nakaguma, Marilena
;
Bennedetti, Anna F.
;
Biscotto, Isabela P.
, et al.
소스
HORMONE RESEARCH IN PAEDIATRICS
; 2017, 88 p43-p44, 2p. Supplement: 1
Scopus
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117 . Academic Journal
Apparently Sporadic Central Precocious Puberty Is Caused By Paternally Inherited Mutations in the Imprinted MKRN3 Gene
저자
by
Abreu, Ana Paula
;
Macedo, Delanie B.
;
Silva Reis, Ana Claudia
;
Montenegro, Luciana Ribeiro
;
Dauber, Andrew
, et al.
소스
ENDOCRINE REVIEWS
; JUN 2014, 35 3, 2p. Supplement: S
Full Text (OUP)
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117 . Academic Journal
Successful Pregnancies after Adequate Hormonal Replacement Prior to Ovarian Stimulation in Four Patients with Congenital Hypopituitarism
저자
by
Correa, Fernanda de Azevedo
;
Bianchi, Paulo H. M.
;
Franca, Marcela M.
;
Otto, Aline P.
;
Rodrigues, Rodrigo J. M.
, et al.
소스
ENDOCRINE REVIEWS
; JUN 2014, 35 3, 2p. Supplement: S
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117 . Academic Journal
Growth Hormone (GH) Deficiency Type II: Clinical and Molecular Evidence of Impaired Regulated GH Secretion Due to an Gln181Arg GH-1 Gene Mutation
저자
by
Miletta, Maria Consolata
;
Eble, Andree
;
Arnhold, Ivo J. P.
;
Dauber, Andrew
;
Fluck, Christa
, et al.
소스
HORMONE RESEARCH IN PAEDIATRICS
; 2016, 86 p89-p89, 1p. Supplement: 1
Scopus
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117 . Academic Journal
Post-receptor IGF-1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome (SRS) patient with hypomethylation at the imprinting control region (ICR1) on chromosome 11p15
저자
by
Montenegro, Luciana M.
;
Leal, Andrea C.
;
Coutinho, Debora C.
;
Mendonca, Berenice B.
;
Arnhold, Ivo J. P.
, et al.
소스
HORMONE RESEARCH
; 2009, 72 p240-p241, 2p.
Scopus
Web of Science
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117 . Academic Journal
A gain of function mutation in the mastermind like domain 1 gene (MAMLD1) discloses a new pathway in the etiology of 46,XY disorders of sex development (DSD)
저자
by
Brandao, Maira P.
;
Fukami, Maki
;
Mendonca, Berenice B.
;
Santos, Mariza A. G.
;
Domenice, Sorahia
, et al.
소스
HORMONE RESEARCH
; 2009, 72 p54-p55, 2p.
Scopus
Web of Science
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117 .
Apparently Sporadic Central Precocious Puberty Is Caused By Paternally Inherited Mutations in the Imprinted MKRN3 Gene
저자
by
Abreu, Ana Paula
;
Macedo, Delanie B.
;
Silva Reis, Ana Claudia
;
Montenegro, Luciana Ribeiro
;
Dauber, Andrew
, et al.
소스
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117 .
Analysis of the effect of a polymorphic CA repeat in the promoter region of IGF1 gene on the growth response to rhGH therapy in patients with severe growth hormone deficiency (GHD)
저자
by
Costalonga, Everlayny F.
;
Coletta, Rocio R. D.
;
Antonini, Sonir R.
;
Gil Guerra-Junior
;
Arnhold, Ivo J. P.
, et al.
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117 .
SHORT AND LONG-TERM SURGICAL OUTCOME OF MASCULINIZING GENITOPLASTY IN A LARGE COHORT OF PATIENTS WITH DISORDERS OF SEX DEVELOPMENT (DSD)
저자
by
Denes, Francisco T.
;
Sircili, Maria
;
Silva, Frederico
;
Costa, Elaine M. F.
;
Brito, Vinicius N.
, et al.
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