226 related articles for article (PubMed ID: 23786871)
1. Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.
Bader-Meunier B; Cavé H; Jeremiah N; Magerus A; Lanzarotti N; Rieux-Laucat F; Cormier-Daire V
Semin Arthritis Rheum; 2013 Oct; 43(2):217-9. PubMed ID: 23786871
[TBL] [Abstract][Full Text] [Related]
2. Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.
Uehara T; Hosogaya N; Matsuo N; Kosaki K
Am J Med Genet A; 2018 Jul; 176(7):1662-1666. PubMed ID: 29737035
[TBL] [Abstract][Full Text] [Related]
3. Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.
Morán-Álvarez P; Gianviti A; Diomedi-Camassei F; Ginevrino M; de Benedetti F; Bracaglia C
Pediatr Rheumatol Online J; 2024 Jan; 22(1):17. PubMed ID: 38238724
[TBL] [Abstract][Full Text] [Related]
4. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
Gilbert-Dussardier B; Briand-Suleau A; Laurendeau I; Bilan F; Cavé H; Verloes A; Vidaud M; Vidaud D; Pasmant E
Orphanet J Rare Dis; 2016 Jul; 11(1):101. PubMed ID: 27450488
[TBL] [Abstract][Full Text] [Related]
5. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.
Choi JH; Oh MY; Yum MS; Lee BH; Kim GH; Yoo HW
Pediatr Neurol; 2015 Mar; 52(3):352-5. PubMed ID: 25563136
[TBL] [Abstract][Full Text] [Related]
6. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S; Aoki Y; Niihori T; Okamoto N; Hennekam RC; Hopman S; Ohashi H; Mizuno S; Watanabe Y; Kamasaki H; Kondo I; Moriyama N; Kurosawa K; Kawame H; Okuyama R; Imaizumi M; Rikiishi T; Tsuchiya S; Kure S; Matsubara Y
J Hum Genet; 2010 Dec; 55(12):801-9. PubMed ID: 20882035
[TBL] [Abstract][Full Text] [Related]
7. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Gripp KW; Zand DJ; Demmer L; Anderson CE; Dobyns WB; Zackai EH; Denenberg E; Jenny K; Stabley DL; Sol-Church K
Am J Med Genet A; 2013 Oct; 161A(10):2420-30. PubMed ID: 23918763
[TBL] [Abstract][Full Text] [Related]
8. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S; Wilbe M; Dahlgren J; Legius E; van Haeringen A; Westphal O; Annerén G; Bondeson ML
BMC Med Genet; 2015 Oct; 16():95. PubMed ID: 26467218
[TBL] [Abstract][Full Text] [Related]
9. Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
Ferrero GB; Picco G; Baldassarre G; Flex E; Isella C; Cantarella D; Corà D; Chiesa N; Crescenzio N; Timeus F; Merla G; Mazzanti L; Zampino G; Rossi C; Silengo M; Tartaglia M; Medico E
Hum Mutat; 2012 Apr; 33(4):703-9. PubMed ID: 22253195
[TBL] [Abstract][Full Text] [Related]
10. Noonan syndrome associated with systemic lupus erythematosus.
Lisbona MP; Moreno M; Orellana C; Gratacos J; Larrosa M
Lupus; 2009 Mar; 18(3):267-9. PubMed ID: 19213867
[TBL] [Abstract][Full Text] [Related]
11. ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Akgun-Dogan O; Simsek-Kiper PO; Taskiran E; Lissewski C; Brinkmann J; Schanze D; Göçmen R; Cagdas D; Bilginer Y; Utine GE; Zenker M; Ozen S; Tezcan İ; Alikasifoglu M; Boduroğlu K
Am J Med Genet A; 2019 Dec; 179(12):2474-2480. PubMed ID: 31584751
[TBL] [Abstract][Full Text] [Related]
12. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M; Sagi-Dain L; Krumbach OHF; Hahn A; Peleg A; German A; Lissewski C; Coppola S; Pantaleoni F; Kocherscheid L; Altmüller F; Schanze D; Logeswaran T; Chahrokh-Zadeh S; Munzig A; Nakhaei-Rad S; Cavé H; Ahmadian MR; Tartaglia M; Zenker M
Hum Mol Genet; 2020 Jul; 29(11):1772-1783. PubMed ID: 31108500
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation.
Li G; Li Y; Liu H; Shi Y; Guan W; Zhang T; Yao W; Wu B; Xu H; Sun L
Medicine (Baltimore); 2020 May; 99(20):e20232. PubMed ID: 32443356
[TBL] [Abstract][Full Text] [Related]
15. Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.
Couser NL; Keelean-Fuller D; Davenport ML; Haverfield E; Masood MM; Henin M; Aylsworth AS
Am J Med Genet A; 2018 Sep; 176(9):2024-2027. PubMed ID: 30240112
[TBL] [Abstract][Full Text] [Related]
16. Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
Croonen EA; Nillesen W; Schrander C; Jongmans M; Scheffer H; Noordam C; Draaisma JM; van der Burgt I; Yntema HG
Mol Syndromol; 2013 Jun; 4(5):227-34. PubMed ID: 23885229
[TBL] [Abstract][Full Text] [Related]
17. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Gripp KW; Aldinger KA; Bennett JT; Baker L; Tusi J; Powell-Hamilton N; Stabley D; Sol-Church K; Timms AE; Dobyns WB
Am J Med Genet A; 2016 Sep; 170(9):2237-47. PubMed ID: 27264673
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
Lee ST; Ki CS; Lee HJ
Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820
[TBL] [Abstract][Full Text] [Related]
19. Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar M; Bijarnia-Mahay S; Verma IC; Mandal K; Puri RD
Indian Pediatr; 2021 Jan; 58(1):30-33. PubMed ID: 33452774
[TBL] [Abstract][Full Text] [Related]
20. Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
Gargano G; Guidotti I; Balestri E; Vagnarelli F; Rosato S; Comitini G; Wischmeijer A; La Sala GB; Iughetti L; Cordeddu V; Rossi C; Tartaglia M; Garavelli L
Am J Med Genet A; 2014 Apr; 164A(4):1015-20. PubMed ID: 24458587
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
