395 related articles for article (PubMed ID: 21784453)
21. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM; Ekvall S; Berglund E; Björkqvist M; Braathen G; Duchen K; Enell H; Holmberg E; Holmlund U; Olsson-Engman M; Annerén G; Bondeson ML
J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
[TBL] [Abstract][Full Text] [Related]
22. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
Yagasaki H; Nakane T; Hasebe Y; Watanabe A; Kise H; Toda T; Koizumi K; Hoshiai M; Sugita K
Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
[TBL] [Abstract][Full Text] [Related]
23. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
Uludağ Alkaya D; Lissewski C; Yeşil G; Zenker M; Tüysüz B
Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
[TBL] [Abstract][Full Text] [Related]
24. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE; Araki T; Swanson KD; Montgomery KT; Schiripo TA; Joshi VA; Li L; Yassin Y; Tamburino AM; Neel BG; Kucherlapati RS
Nat Genet; 2007 Jan; 39(1):70-4. PubMed ID: 17143285
[TBL] [Abstract][Full Text] [Related]
25. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
Ekvall S; Hagenäs L; Allanson J; Annerén G; Bondeson ML
Am J Med Genet A; 2011 Jun; 155A(6):1217-24. PubMed ID: 21548061
[TBL] [Abstract][Full Text] [Related]
26. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
Seemanová E; Zenker M
Cas Lek Cesk; 2014; 153(5):242-5. PubMed ID: 25370770
[TBL] [Abstract][Full Text] [Related]
27. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M; Niihori T; Mizuno S; Okamoto N; Hayashi S; Watanabe A; Yokozawa M; Suzumura H; Nakahara A; Nakano Y; Hokosaki T; Ohmori A; Sawada H; Migita O; Mima A; Lapunzina P; Santos-Simarro F; García-Miñaúr S; Ogata T; Kawame H; Kurosawa K; Ohashi H; Inoue S; Matsubara Y; Kure S; Aoki Y
Hum Genet; 2016 Feb; 135(2):209-22. PubMed ID: 26714497
[TBL] [Abstract][Full Text] [Related]
28. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T; Yoshida R
Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
[TBL] [Abstract][Full Text] [Related]
29. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Neumann TE; Allanson J; Kavamura I; Kerr B; Neri G; Noonan J; Cordeddu V; Gibson K; Tzschach A; Krüger G; Hoeltzenbein M; Goecke TO; Kehl HG; Albrecht B; Luczak K; Sasiadek MM; Musante L; Laurie R; Peters H; Tartaglia M; Zenker M; Kalscheuer V
Eur J Hum Genet; 2009 Apr; 17(4):420-5. PubMed ID: 18854871
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
32. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
Zenker M
Curr Opin Pediatr; 2011 Aug; 23(4):443-51. PubMed ID: 21750428
[TBL] [Abstract][Full Text] [Related]
33. Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA; Nishizawa T; Komoike Y; Yagi H; Furutani M; Amo R; Kamisago M; Momma K; Katayama H; Nakagawa M; Fujiwara Y; Matsushima M; Mizuno K; Tokuyama M; Hirota H; Muneuchi J; Higashinakagawa T; Matsuoka R
Nat Genet; 2007 Aug; 39(8):1013-7. PubMed ID: 17603482
[TBL] [Abstract][Full Text] [Related]
34. Response to growth hormone in short children with Noonan syndrome: correlation to genotype.
Binder G
Horm Res; 2009 Dec; 72 Suppl 2():52-6. PubMed ID: 20029239
[TBL] [Abstract][Full Text] [Related]
35. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Carcavilla A; Santomé JL; Pinto I; Sánchez-Pozo J; Guillén-Navarro E; Martín-Frías M; Lapunzina P; Ezquieta B
Rev Esp Cardiol (Engl Ed); 2013 May; 66(5):350-6. PubMed ID: 24775816
[TBL] [Abstract][Full Text] [Related]
36. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M; Lehmann K; Schulz AL; Barth H; Hansmann D; Koenig R; Korinthenberg R; Kreiss-Nachtsheim M; Meinecke P; Morlot S; Mundlos S; Quante AS; Raskin S; Schnabel D; Wehner LE; Kratz CP; Horn D; Kutsche K
J Med Genet; 2007 Feb; 44(2):131-5. PubMed ID: 17056636
[TBL] [Abstract][Full Text] [Related]
37. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Denayer E; Devriendt K; de Ravel T; Van Buggenhout G; Smeets E; Francois I; Sznajer Y; Craen M; Leventopoulos G; Mutesa L; Vandecasseye W; Massa G; Kayserili H; Sciot R; Fryns JP; Legius E
Genes Chromosomes Cancer; 2010 Mar; 49(3):242-52. PubMed ID: 19953625
[TBL] [Abstract][Full Text] [Related]
38. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Jongmans MC; Hoogerbrugge PM; Hilkens L; Flucke U; van der Burgt I; Noordam K; Ruiterkamp-Versteeg M; Yntema HG; Nillesen WM; Ligtenberg MJ; van Kessel AG; Kuiper RP; Hoogerbrugge N
Genes Chromosomes Cancer; 2010 Jul; 49(7):635-41. PubMed ID: 20461756
[TBL] [Abstract][Full Text] [Related]
39. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y; Niihori T; Narumi Y; Kure S; Matsubara Y
Hum Mutat; 2008 Aug; 29(8):992-1006. PubMed ID: 18470943
[TBL] [Abstract][Full Text] [Related]
40. Genetic and pathogenetic aspects of Noonan syndrome and related disorders.
Zenker M
Horm Res; 2009 Dec; 72 Suppl 2():57-63. PubMed ID: 20029240
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]