137 related articles for article (PubMed ID: 37942564)
21. 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]
22. Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.
Salem B; Hofherr S; Turner J; Doros L; Smpokou P
J Pediatr Hematol Oncol; 2016 Nov; 38(8):e278-e282. PubMed ID: 27258033
[TBL] [Abstract][Full Text] [Related]
23. [Genetic analysis of a family with BCL11A-related intellectual disability].
Liu A; Hu Y; Chong B; Zheng S; Li L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):42-46. PubMed ID: 36584999
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C; Chune V; Pantaleoni F; De Luca A; Capri Y; Brinkmann J; Lepri F; Daniele P; Leenders E; Mazzanti L; Scarano E; Radio FC; Kutsche K; Kuechler A; Gérard M; Ranguin K; Legendre M; Vial Y; van der Burgt I; Rinne T; Andreucci E; Mastromoro G; Digilio MC; Cave H; Tartaglia M; Zenker M
Eur J Hum Genet; 2021 Jan; 29(1):51-60. PubMed ID: 32788663
[TBL] [Abstract][Full Text] [Related]
26. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL; Alawi M; Amor DJ; Tan TY; Cuturilo G; Lissewski C; Brinkmann J; Schanze D; Kutsche K; Zenker M
Am J Med Genet A; 2018 Feb; 176(2):470-476. PubMed ID: 29271604
[TBL] [Abstract][Full Text] [Related]
27. First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
Gentile M; Fanelli T; Lepri FR; Gentile A; Orsini P; Volpe P; Novelli A; Ficarella R
Am J Med Genet A; 2021 Jun; 185(6):1897-1902. PubMed ID: 33750022
[TBL] [Abstract][Full Text] [Related]
28. A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
Zhao X; Li Z; Wang L; Lan Z; Lin F; Zhang W; Su Z
BMC Endocr Disord; 2021 Jan; 21(1):2. PubMed ID: 33407364
[TBL] [Abstract][Full Text] [Related]
29. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
[TBL] [Abstract][Full Text] [Related]
30. Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D; Zhou B; Tian X; Chen X; Wang Y; Hao S; Zhang C; Hui L
Mol Genet Genomic Med; 2024 Jan; 12(1):e2327. PubMed ID: 38037515
[TBL] [Abstract][Full Text] [Related]
31. Functional analysis of
Iida T; Igarashi A; Fukunaga K; Aoki T; Hidai T; Yanagi K; Yamamori M; Satou K; Go H; Kosho T; Maki R; Suzuki T; Nitta Y; Sugie A; Asaoka Y; Furutani-Seiki M; Kimura T; Matsubara Y; Kaname T
Front Genet; 2024; 15():1383176. PubMed ID: 38601074
[No Abstract] [Full Text] [Related]
32. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE; Bonetti M; Paardekooper Overman J; Nillesen WM; Frints SG; de Ligt J; Zampino G; Justino A; Machado JC; Schepens M; Brunner HG; Veltman JA; Scheffer H; Gros P; Costa JL; Tartaglia M; van der Burgt I; Yntema HG; den Hertog J
Eur J Hum Genet; 2015 Mar; 23(3):317-24. PubMed ID: 24939586
[TBL] [Abstract][Full Text] [Related]
33. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
Addissie YA; Kotecha U; Hart RA; Martinez AF; Kruszka P; Muenke M
Am J Med Genet A; 2015 Nov; 167A(11):2657-63. PubMed ID: 26249544
[TBL] [Abstract][Full Text] [Related]
34. Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC; Yin J; Yu HW; Yuan T; Fernandez M; Yung CK; Trinh QM; Peltekova VD; Reid JG; Tworog-Dube E; Morgan MB; Muzny DM; Stein L; McPherson JD; Roberts AE; Gibbs RA; Neel BG; Kucherlapati R
Proc Natl Acad Sci U S A; 2014 Aug; 111(31):11473-8. PubMed ID: 25049390
[TBL] [Abstract][Full Text] [Related]
35. Overexpression of wild type RRAS2, without oncogenic mutations, drives chronic lymphocytic leukemia.
Hortal AM; Oeste CL; Cifuentes C; Alcoceba M; Fernández-Pisonero I; Clavaín L; Tercero R; Mendoza P; Domínguez V; García-Flores M; Pintado B; Abia D; García-Macías C; Navarro-Bailón A; Bustelo XR; González M; Alarcón B
Mol Cancer; 2022 Feb; 21(1):35. PubMed ID: 35120522
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. [Genetic analysis of three patients with Kleefstra syndrome].
Gong Y; Zhu X; Li W; Dong G; Xu B; Zhao H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Apr; 38(4):347-350. PubMed ID: 33834462
[TBL] [Abstract][Full Text] [Related]
38. Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
Eur J Hum Genet; 2017 Jun; 25(7):823-831. PubMed ID: 28594414
[TBL] [Abstract][Full Text] [Related]
39. A hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors.
Fernández-Pisonero I; Clavaín L; Robles-Valero J; Lorenzo-Martín LF; Caloto R; Nieto B; García-Macías C; Oeste CL; Sánchez-Martín M; Abad A; Hortal A; Caballero D; González M; Dosil M; Alarcón B; Bustelo XR
Cell Rep; 2022 Mar; 38(11):110522. PubMed ID: 35294890
[TBL] [Abstract][Full Text] [Related]
40. Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Dalili S; Hoseini Nouri SA; Bayat R; Koohmanaee S; Tabrizi M; Zarkesh M; Tarang A; Mahdieh N
Hum Genomics; 2023 Feb; 17(1):12. PubMed ID: 36803953
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]