113 related articles for article (PubMed ID: 25541901)
1. 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. PubMed ID: 25541901
[TBL] [Abstract][Full Text] [Related]
2. A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
Kim YM; Seo GH; Kim GH; Ko JM; Choi JH; Yoo HW
BMC Med Genet; 2018 Mar; 19(1):35. PubMed ID: 29506479
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 24313804
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 15769992
[TBL] [Abstract][Full Text] [Related]
5. Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G; Ziegler J; Schweizer R; Habhab W; Haack TB; Heinrich T; Eggermann T
Clin Epigenetics; 2020 Oct; 12(1):152. PubMed ID: 33076988
[TBL] [Abstract][Full Text] [Related]
6. Anesthetic and dental management of a child with IMAGe syndrome.
Lindemeyer RG; Rashewsky SE; Louie PJ; Schleelein L
Anesth Prog; 2014; 61(4):165-8. PubMed ID: 25517553
[TBL] [Abstract][Full Text] [Related]
7. Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.
Go A; Lee BH; Choi JH; Jeong J; Jung E; Lee BS
Front Endocrinol (Lausanne); 2023; 14():1242387. PubMed ID: 37745698
[TBL] [Abstract][Full Text] [Related]
8. MRI features and differential diagnoses of congenital vaginal atresia.
Xu S; Zhang J; Wang S; Yang L; Qian J; Yue S; Zhu D; Yang L; Zhao L; Yang A; Li Y; Xue Q
Gynecol Endocrinol; 2019 Sep; 35(9):777-781. PubMed ID: 30982355
[No Abstract] [Full Text] [Related]
9. 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. PubMed ID: 12065932
[TBL] [Abstract][Full Text] [Related]
10. 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
Trends Mol Med; 2014 Nov; 20(11):614-22. PubMed ID: 25262539
[TBL] [Abstract][Full Text] [Related]
11. A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma.
Bolomiti M; Båtnes-Pedersen E; Telman G; Januszkiewicz-Lewandowska D
Cancer Genet; 2021 Aug; 256-257():100-105. PubMed ID: 34098225
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 14760276
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 10599684
[TBL] [Abstract][Full Text] [Related]
14. [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. PubMed ID: 12736593
[TBL] [Abstract][Full Text] [Related]
15. Analysis of
Suntharalingham JP; Ishida M; Buonocore F; Del Valle I; Solanky N; Demetriou C; Regan L; Moore GE; Achermann JC
F1000Res; 2019; 8():90. PubMed ID: 31497289
[No Abstract] [Full Text] [Related]
16. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV; Murray JE; Parry DA; Robertson A; Bellelli R; Tarnauskaitė Ž; Challis R; Cleal L; Borel V; Fluteau A; Santoyo-Lopez J; ; Aitman T; Barroso I; Basel D; Bicknell LS; Goel H; Hu H; Huff C; Hutchison M; Joyce C; Knox R; Lacroix AE; Langlois S; McCandless S; McCarrier J; Metcalfe KA; Morrissey R; Murphy N; Netchine I; O'Connell SM; Olney AH; Paria N; Rosenfeld JA; Sherlock M; Syverson E; White PC; Wise C; Yu Y; Zacharin M; Banerjee I; Reijns M; Bober MB; Semple RK; Boulton SJ; Rios JJ; Jackson AP
Am J Hum Genet; 2018 Dec; 103(6):1038-1044. PubMed ID: 30503519
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 21108398
[TBL] [Abstract][Full Text] [Related]
18. [Hyperpigmentation in primary adrenal cortex insufficiency: Addison disease].
Schürer N; Zumdick M; Goerz G
Hautarzt; 1993 May; 44(5):300-5. PubMed ID: 8391520
[TBL] [Abstract][Full Text] [Related]
19. IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.
Cabrera-Salcedo C; Kumar P; Hwa V; Dauber A
Pediatr Endocrinol Rev; 2017 Mar; 14(3):289-297. PubMed ID: 28508599
[TBL] [Abstract][Full Text] [Related]
20. The spectrum of genital median raphe anomalies among infants undergoing ritual circumcision.
Baky Fahmy MA
J Pediatr Urol; 2013 Dec; 9(6 Pt A):872-7. PubMed ID: 23333249
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]