These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 24313804)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.
    Nakashima S; Kato F; Kosho T; Nagasaki K; Kikuchi T; Kagami M; Fukami M; Ogata T
    J Hum Genet; 2015 Feb; 60(2):91-5. PubMed ID: 25427884
    [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. 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]  

  • 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. Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.
    Boonen SE; Freschi A; Christensen R; Valente FM; Lildballe DL; Perone L; Palumbo O; Carella M; Uldbjerg N; Sparago A; Riccio A; Cerrato F
    Clin Epigenetics; 2016; 8():69. PubMed ID: 27313795
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Gain of function in CDKN1C.
    Riccio A; Cubellis MV
    Nat Genet; 2012 Jun; 44(7):737-8. PubMed ID: 22735584
    [No Abstract]   [Full Text] [Related]  

  • 18. Analysis of CDKN1C in Beckwith Wiedemann syndrome.
    Algar E; Brickell S; Deeble G; Amor D; Smith P
    Hum Mutat; 2000; 15(6):497-508. PubMed ID: 10862080
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.