Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2011 1
2013 2
2014 5
2016 1
2017 1
2018 1
2019 1
2020 3
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F, Achermann JC. Buonocore F, et al. Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30. Clin Endocrinol (Oxf). 2020. PMID: 31610036 Free PMC article. Review.
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome …
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dy …
CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M. Eggermann T, et al. Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Trends Mol Med. 2014. PMID: 25262539 Review.
With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell syndrome (SRS), its key role for growth has been confirmed. ...
With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome …
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma.
Bolomiti M, Båtnes-Pedersen E, Telman G, Januszkiewicz-Lewandowska D. Bolomiti M, et al. Cancer Genet. 2021 Aug;256-257:100-105. doi: 10.1016/j.cancergen.2021.05.006. Epub 2021 May 26. Cancer Genet. 2021. PMID: 34098225 Free article.
IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (in males). ...Through this case we aim to present the possibility of oncogenesis in patients wit …
IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal …
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Malikova J, Flück CE. Malikova J, et al. Horm Res Paediatr. 2014;82(3):145-57. doi: 10.1159/000363107. Epub 2014 Aug 1. Horm Res Paediatr. 2014. PMID: 25096886 Free article. Review.
Other forms of PAI include metabolic disorders, autoimmune disorders and adrenal dysgenesis, e.g. the IMAGe syndrome, for which the underlying genetic defect has been recently identified. ...
Other forms of PAI include metabolic disorders, autoimmune disorders and adrenal dysgenesis, e.g. the IMAGe syndrome, for whic …
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.
Flück CE. Flück CE. Eur J Endocrinol. 2017 Sep;177(3):R99-R111. doi: 10.1530/EJE-17-0128. Epub 2017 Apr 27. Eur J Endocrinol. 2017. PMID: 28450305 Review.
In addition, whole exome sequencing approach also solved the genetics of some syndromic forms of PAI including IMAGe syndrome (CDKN1C), Irish traveler syndrome (MCM4), MIRAGE syndrome (SAMD9); and most recently a syndrome combining FGD with steroid-resistant nephrot …
In addition, whole exome sequencing approach also solved the genetics of some syndromic forms of PAI including IMAGe syndrome …
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.
Çamtosun E, Dündar İ, Akıncı A, Kayaş L, Çiftci N. Çamtosun E, et al. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):88-99. doi: 10.4274/jcrpe.galenos.2020.2020.0132. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32938577 Free PMC article.
Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown …
Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple …
Primary adrenal insufficiency in childhood and adolescence: advances in diagnosis and management.
Simm PJ, McDonnell CM, Zacharin MR. Simm PJ, et al. J Paediatr Child Health. 2004 Nov;40(11):596-9. doi: 10.1111/j.1440-1754.2004.00482.x. J Paediatr Child Health. 2004. PMID: 15469526
Five patients were diagnosed with autoimmune adrenal insufficiency, five with adrenal hypoplasia congenita, five with adrenoleukodystrophy and one with IMAGe syndrome. CONCLUSIONS: A high index of suspicion results in earlier detection and possible prevention of adr …
Five patients were diagnosed with autoimmune adrenal insufficiency, five with adrenal hypoplasia congenita, five with adrenoleukodystrophy a …
Presentation of primary adrenal insufficiency in childhood.
Hsieh S, White PC. Hsieh S, et al. J Clin Endocrinol Metab. 2011 Jun;96(6):E925-8. doi: 10.1210/jc.2011-0015. Epub 2011 Apr 6. J Clin Endocrinol Metab. 2011. PMID: 21470994
These had etiologies as follows: autoimmune (18), autoimmune polyendocrinopathy syndrome (an additional five), ACTH resistance (four), adrenoleukodystrophy (three), adrenal hypoplasia congenita (two), adrenal hemorrhage (two), IMAGe syndrome (one), and idiopathic (t …
These had etiologies as follows: autoimmune (18), autoimmune polyendocrinopathy syndrome (an additional five), ACTH resistance (four), adren …
Anesthetic and dental management of a child with IMAGe syndrome.
Lindemeyer RG, Rashewsky SE, Louie PJ, Schleelein L. Lindemeyer RG, et al. Anesth Prog. 2014 Winter;61(4):165-8. doi: 10.2344/0003-3006-61.4.165. Anesth Prog. 2014. PMID: 25517553 Free PMC article.
IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. ...The purpose of this case report is to describe the successful anesthetic management of a pediatric patient diagnosed with IMAGe syndrome who presen …
IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. ...The purpose of this c …
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T. Kato F, et al. Clin Endocrinol (Oxf). 2014 May;80(5):706-13. doi: 10.1111/cen.12379. Epub 2013 Dec 28. Clin Endocrinol (Oxf). 2014. PMID: 24313804
However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients. ...Furthermore, lack of CDKN1C mutation in case 3 implies genetic heterogeneity …
However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we r …
16 results