136 related articles for article (PubMed ID: 34098225)
1. 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]
2. 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. PubMed ID: 25057881
[TBL] [Abstract][Full Text] [Related]
3. 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; 44(7):788-92. PubMed ID: 22634751
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.
Milani D; Pezzani L; Tabano S; Miozzo M
Appl Clin Genet; 2014; 7():169-75. PubMed ID: 25258553
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.
Hamajima N; Johmura Y; Suzuki S; Nakanishi M; Saitoh S
PLoS One; 2013; 8(9):e75137. PubMed ID: 24098681
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H; Higashimoto K
J Hum Genet; 2013 Jul; 58(7):402-9. PubMed ID: 23719190
[TBL] [Abstract][Full Text] [Related]
15. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Brioude F; Oliver-Petit I; Blaise A; Praz F; Rossignol S; Le Jule M; Thibaud N; Faussat AM; Tauber M; Le Bouc Y; Netchine I
J Med Genet; 2013 Dec; 50(12):823-30. PubMed ID: 24065356
[TBL] [Abstract][Full Text] [Related]
16. Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
Piersigilli F; Auriti C; Mondì V; Francalanci P; Salvatori G; Danhaive O
Indian J Pediatr; 2016 Nov; 83(12-13):1476-1478. PubMed ID: 27345568
[TBL] [Abstract][Full Text] [Related]
17.
Li J; Chen LN; He HL
World J Clin Cases; 2023 Jul; 11(19):4655-4663. PubMed ID: 37469742
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.
Borges KS; Arboleda VA; Vilain E
Cell Div; 2015; 10():2. PubMed ID: 25861374
[TBL] [Abstract][Full Text] [Related]
20. Radiological evolution in IMAGe association: a case report.
Amano N; Naoaki H; Ishii T; Narumi S; Hachiya R; Nishimura G; Hasegawa T
Am J Med Genet A; 2008 Aug; 146A(16):2130-3. PubMed ID: 18627061
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
