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Items: 1 to 20 of 87

1.

Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

Bergadá I, Del Rey G, Lapunzina P, Bergadá C, Fellous M, Copelli S.

J Clin Endocrinol Metab. 2005 Jun;90(6):3186-90. Epub 2005 Mar 15. Review.

PMID:
15769992
2.

IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER.

J Clin Endocrinol Metab. 1999 Dec;84(12):4335-40. Review.

PMID:
10599684
3.

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.

Pedreira CC, Savarirayan R, Zacharin MR.

J Pediatr. 2004 Feb;144(2):274-7.

PMID:
14760276
4.

IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.

Lienhardt A, Mas JC, Kalifa G, Chaussain JL, Tauber M.

Horm Res. 2002;57 Suppl 2:71-8.

PMID:
12065932
5.

Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?

Özsu E, Yeşiltepe Mutlu RG, Işık O, Çizmecioğlu FM, Hatun Ş.

J Clin Res Pediatr Endocrinol. 2014 Dec;6(4):266-8. doi: 10.4274/Jcrpe.1355.

6.

[A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases].

Ferey S, Merzoug V, Linglart A, Chaussain JL, Kalifa G.

J Radiol. 2003 Mar;84(3):323-5. French.

7.

IMAGe syndrome: Case report with a previously unreported feature and review of published literature.

Balasubramanian M, Sprigg A, Johnson DS.

Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716. Review.

PMID:
21108398
8.

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24.

9.

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.

Clin Endocrinol (Oxf). 2014 May;80(5):706-13. doi: 10.1111/cen.12379. Epub 2013 Dec 28.

PMID:
24313804
10.

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Bassett JH, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV.

Clin Endocrinol (Oxf). 1999 Jan;50(1):69-75.

PMID:
10341858
11.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E.

Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.

12.

IMAGe Syndrome.

Bennett J, Schrier Vergano SA, Deardorff MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Mar 13 [updated 2016 Sep 8].

14.

IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

Phillips K, Arroyo MR, Duckworth LV.

Pediatr Dev Pathol. 2014 May-Jun;17(3):204-8. doi: 10.2350/14-01-1421-OA.1. Epub 2014 Mar 11. Review.

PMID:
24617583
15.

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.

Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE.

Mol Genet Metab. 2006 May;88(1):66-70. Epub 2006 Feb 28.

PMID:
16504561
16.

Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

Achermann JC, Silverman BL, Habiby RL, Jameson JL.

J Pediatr. 2000 Dec;137(6):878-81.

PMID:
11113848
17.
18.

New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H.

J Clin Endocrinol Metab. 1996 Feb;81(2):530-5.

PMID:
8636263
19.

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.

Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R.

Am J Med Genet A. 2006 Aug 15;140(16):1778-84.

PMID:
16835919
20.

Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

Peter M, Viemann M, Partsch CJ, Sippell WG.

J Clin Endocrinol Metab. 1998 Aug;83(8):2666-74.

PMID:
9709929

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