221 related articles for article (PubMed ID: 25057881)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of
Sparago A; Cerrato F; Pignata L; Cammarata-Scalisi F; Garavelli L; Piscopo C; Vancini A; Riccio A
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065128
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Brioude F; Netchine I; Praz F; Le Jule M; Calmel C; Lacombe D; Edery P; Catala M; Odent S; Isidor B; Lyonnet S; Sigaudy S; Leheup B; Audebert-Bellanger S; Burglen L; Giuliano F; Alessandri JL; Cormier-Daire V; Laffargue F; Blesson S; Coupier I; Lespinasse J; Blanchet P; Boute O; Baumann C; Polak M; Doray B; Verloes A; Viot G; Le Bouc Y; Rossignol S
Hum Mutat; 2015 Sep; 36(9):894-902. PubMed ID: 26077438
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
Li M; Squire J; Shuman C; Fei YL; Atkin J; Pauli R; Smith A; Nishikawa J; Chitayat D; Weksberg R
Genomics; 2001 Jun; 74(3):370-6. PubMed ID: 11414765
[TBL] [Abstract][Full Text] [Related]
18.
Li J; Chen LN; He HL
World J Clin Cases; 2023 Jul; 11(19):4655-4663. PubMed ID: 37469742
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
Bedeschi MF; Calvello M; Paganini L; Pezzani L; Baccarin M; Fontana L; Sirchia SM; Guerneri S; Canazza L; Leva E; Colombo L; Lalatta F; Mosca F; Tabano S; Miozzo M
BMC Med Genet; 2017 Oct; 18(1):115. PubMed ID: 29047350
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
