Literature DB >> 21036276

Puberty, stress, and sudden death.

Metin Guclu1, Lin Lin, Erdinc Erturk, John C Achermann, Hakan Cangul.   

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Year:  2010        PMID: 21036276     DOI: 10.1016/S0140-6736(10)61153-1

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  8 in total

1.  Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.

Authors:  Feng Zhu; Min Zhou; Xiuling Deng; Yujuan Li; Jing Xiong
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-16       Impact factor: 6.055

Review 2.  DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.

Authors:  Jenifer P Suntharalingham; Federica Buonocore; Andrew J Duncan; John C Achermann
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2015-07-14       Impact factor: 4.690

3.  Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Authors:  Nikolaos Kyriakakis; Tolulope Shonibare; Julie Kyaw-Tun; Julie Lynch; Carlos F Lagos; John C Achermann; Robert D Murray
Journal:  Pituitary       Date:  2017-10       Impact factor: 4.107

4.  Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

Authors:  Chanisara Suthiworachai; Rachaneekorn Tammachote; Chalurmpon Srichomthong; Rungnapa Ittiwut; Kanya Suphapeetiporn; Taninee Sahakitrungruang; Vorasuk Shotelersuk
Journal:  J Endocr Soc       Date:  2018-12-12

5.  Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.

Authors:  Michelle Cerutti C Vargas; Felipe Scipião Moura; Cecília P Elias; Sara R Carvalho; Nelson Rassi; Ilda S Kunii; Magnus R Dias-da-Silva; Flavia Amanda Costa-Barbosa
Journal:  BMC Endocr Disord       Date:  2020-02-06       Impact factor: 2.763

Review 6.  Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Authors:  Federica Buonocore; John C Achermann
Journal:  Clin Endocrinol (Oxf)       Date:  2019-10-30       Impact factor: 3.478

7.  Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review.

Authors:  Yuhan Wang; Xiufen Liu; Xiaona Xie; Jingjing He; Ying Gao
Journal:  Exp Ther Med       Date:  2022-08-19       Impact factor: 2.751

8.  A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.

Authors:  Judith Gerards; Michael M Ritter; Elke Kaminsky; Andreas Gal; Wolfgang Hoeppner; Marcus Quinkler
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-09-04
  8 in total

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