297 related articles for article (PubMed ID: 28620009)
1. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani A; Greer MC; Kalish JM; Nakagawara A; Nathanson KL; Pajtler KW; Pfister SM; Walsh MF; Wasserman JD; Zelley K; Kratz CP
Clin Cancer Res; 2017 Jun; 23(12):e83-e90. PubMed ID: 28620009
[TBL] [Abstract][Full Text] [Related]
2. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A; Okamoto N; Fujinaga S; Morita H; Shimizu J; Akiyama T; Ninomiya S; Takanashi J; Kubo T
Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
[TBL] [Abstract][Full Text] [Related]
3. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
Lestner JM; Chong WK; Offiiah A; Kefas J; Vandersteen AM
Clin Dysmorphol; 2012 Jul; 21(3):152-154. PubMed ID: 22473152
[No Abstract] [Full Text] [Related]
4. West syndrome in a patient with Schinzel-Giedion syndrome.
Miyake F; Kuroda Y; Naruto T; Ohashi I; Takano K; Kurosawa K
J Child Neurol; 2015 Jun; 30(7):932-6. PubMed ID: 25028416
[TBL] [Abstract][Full Text] [Related]
5. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R; Deriziotis P; Steehouwer M; Gilissen C; Graham SA; van Dam S; Hoover-Fong J; Telegrafi AB; Destree A; Smigiel R; Lambie LA; Kayserili H; Altunoglu U; Lapi E; Uzielli ML; Aracena M; Nur BG; Mihci E; Moreira LM; Borges Ferreira V; Horovitz DD; da Rocha KM; Jezela-Stanek A; Brooks AS; Reutter H; Cohen JS; Fatemi A; Smitka M; Grebe TA; Di Donato N; Deshpande C; Vandersteen A; Marques Lourenço C; Dufke A; Rossier E; Andre G; Baumer A; Spencer C; McGaughran J; Franke L; Veltman JA; De Vries BB; Schinzel A; Fisher SE; Hoischen A; van Bon BW
PLoS Genet; 2017 Mar; 13(3):e1006683. PubMed ID: 28346496
[TBL] [Abstract][Full Text] [Related]
6. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Şimşek-Kiper PÖ; Alanay Y; Gülhan B; Lissewski C; Türkyilmaz D; Alehan D; Cetin M; Utine GE; Zenker M; Boduroğlu K
Clin Genet; 2013 Feb; 83(2):181-6. PubMed ID: 22420426
[TBL] [Abstract][Full Text] [Related]
7. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
Sullivan JA; Stong N; Baugh EH; McDonald MT; Takeuchi A; Shashi V
Am J Med Genet A; 2020 Aug; 182(8):1947-1951. PubMed ID: 32445275
[TBL] [Abstract][Full Text] [Related]
8. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K; Murray A; Hanks S; Douglas J; Armstrong R; Banka S; Bird LM; Clericuzio CL; Cormier-Daire V; Cushing T; Flinter F; Jacquemont ML; Joss S; Kinning E; Lynch SA; Magee A; McConnell V; Medeira A; Ozono K; Patton M; Rankin J; Shears D; Simon M; Splitt M; Strenger V; Stuurman K; Taylor C; Titheradge H; Van Maldergem L; Temple IK; Cole T; Seal S; ; Rahman N
Am J Med Genet A; 2013 Dec; 161A(12):2972-80. PubMed ID: 24214728
[TBL] [Abstract][Full Text] [Related]
9. SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
Banfi F; Rubio A; Zaghi M; Massimino L; Fagnocchi G; Bellini E; Luoni M; Cancellieri C; Bagliani A; Di Resta C; Maffezzini C; Ianielli A; Ferrari M; Piazza R; Mologni L; Broccoli V; Sessa A
Nat Commun; 2021 Jun; 12(1):4050. PubMed ID: 34193871
[TBL] [Abstract][Full Text] [Related]
10. [Schinzel-Giedion syndrome: a new mutation in SETBP1].
López-González V; Domingo-Jiménez MR; Burglen L; Ballesta-Martínez MJ; Whalen S; Piñero-Fernández JA; Guillén-Navarro E
An Pediatr (Barc); 2015 Jan; 82(1):e12-6. PubMed ID: 25082129
[TBL] [Abstract][Full Text] [Related]
11. High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets IJ; Waanders E; Ligtenberg MJ; van Bladel DAG; Kamping EJ; Hoogerbrugge PM; Hopman S; Olderode-Berends MJ; Gerkes EH; Koolen DA; Marcelis C; Santen GW; van Belzen MJ; Mordaunt D; McGregor L; Thompson E; Kattamis A; Pastorczak A; Mlynarski W; Ilencikova D; van Silfhout AV; Gardeitchik T; de Bont ES; Loeffen J; Wagner A; Mensenkamp AR; Kuiper RP; Hoogerbrugge N; Jongmans MC
Clin Cancer Res; 2018 Apr; 24(7):1594-1603. PubMed ID: 29351919
[No Abstract] [Full Text] [Related]
12. "Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
Hamilton MJ; Suri M
Adv Genet; 2020; 105():137-174. PubMed ID: 32560786
[TBL] [Abstract][Full Text] [Related]
13. EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Griffiths S; Loveday C; Zachariou A; Behan LA; Chandler K; Cole T; D'Arrigo S; Dieckmann A; Foster A; Gibney J; Hunter M; Milani D; Pantaleoni C; Roche E; Sherlock M; Springer A; White SM; ; Tatton-Brown K
Am J Med Genet A; 2019 Apr; 179(4):588-594. PubMed ID: 30793471
[TBL] [Abstract][Full Text] [Related]
14. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC; Ockeloen CW; Czeschik JC; van Essen AJ; Pfundt R; Smeitink J; Poll-The BT; Engels H; Strom TM; Wieczorek D; Kleefstra T; Lüdecke HJ
Hum Genet; 2015 Oct; 134(10):1089-97. PubMed ID: 26264464
[TBL] [Abstract][Full Text] [Related]
15. Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
Tabori U; Hansford JR; Achatz MI; Kratz CP; Plon SE; Frebourg T; Brugières L
Clin Cancer Res; 2017 Jun; 23(11):e32-e37. PubMed ID: 28572265
[TBL] [Abstract][Full Text] [Related]
16. Further delineation of Malan syndrome.
Priolo M; Schanze D; Tatton-Brown K; Mulder PA; Tenorio J; Kooblall K; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Menke LA; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Segovia M; Shaw-Smith C; Smithson S; Suri M; Valdez RM; Van Haeringen A; Van Hagen JM; Zollino M; Lapunzina P; Thakker RV; Zenker M; Hennekam RC
Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
[TBL] [Abstract][Full Text] [Related]
17. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
Carvalho E; Honjo R; Magalhães M; Yamamoto G; Rocha K; Naslavsky M; Zatz M; Passos-Bueno MR; Kim C; Bertola D
Am J Med Genet A; 2015 May; 167A(5):1039-46. PubMed ID: 25663181
[TBL] [Abstract][Full Text] [Related]
18. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Herenger Y; Stoetzel C; Schaefer E; Scheidecker S; Manière MC; Pelletier V; Alembik Y; Christmann D; Clavert JM; Terzic J; Fischbach M; De Saint Martin A; Dollfus H
Eur J Med Genet; 2015 Sep; 58(9):479-87. PubMed ID: 26188272
[TBL] [Abstract][Full Text] [Related]
19. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
Suphapeetiporn K; Srichomthong C; Shotelersuk V
Clin Genet; 2011 Apr; 79(4):391-3. PubMed ID: 21371013
[No Abstract] [Full Text] [Related]
20. Cancer incidence and surveillance strategies in individuals with RASopathies.
Ney G; Gross A; Livinski A; Kratz CP; Stewart DR
Am J Med Genet C Semin Med Genet; 2022 Dec; 190(4):530-540. PubMed ID: 36533693
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]