These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 32514133)

  • 1. Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
    Ferrari L; Mangano E; Bonati MT; Monterosso I; Capitanio D; Chiappori F; Brambilla I; Gelfi C; Battaglia C; Bordoni R; Riva P
    Eur J Hum Genet; 2020 Oct; 28(10):1432-1445. PubMed ID: 32514133
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.
    Tritto V; Capitanio D; Gelfi C; Riva P
    Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36835447
    [TBL] [Abstract][Full Text] [Related]  

  • 3. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
    Ouboukss F; Adadi N; Amasdl S; Smaili W; Laarabi FZ; Lyahyai J; Sefiani A; Ratbi I
    J Appl Genet; 2024 May; 65(2):303-308. PubMed ID: 37987971
    [TBL] [Abstract][Full Text] [Related]  

  • 4. LZTR1: Genotype Expansion in Noonan Syndrome.
    Güemes M; Martín-Rivada Á; Ortiz-Cabrera NV; Martos-Moreno GÁ; Pozo-Román J; Argente J
    Horm Res Paediatr; 2019; 92(4):269-275. PubMed ID: 31533111
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
    Pagnamenta AT; Kaisaki PJ; Bennett F; Burkitt-Wright E; Martin HC; Ferla MP; Taylor JM; Gompertz L; Lahiri N; Tatton-Brown K; Newbury-Ecob R; Henderson A; Joss S; Weber A; Carmichael J; Turnpenny PD; McKee S; Forzano F; Ashraf T; Bradbury K; Shears D; Kini U; de Burca A; ; Blair E; Taylor JC; Stewart H
    Clin Genet; 2019 Jun; 95(6):693-703. PubMed ID: 30859559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
    Brinkmann J; Lissewski C; Pinna V; Vial Y; Pantaleoni F; Lepri F; Daniele P; Burnyte B; Cuturilo G; Fauth C; Gezdirici A; Kotzot D; Güleç EY; Iotova V; Schanze D; Ramond F; Havlovicová M; Utine GE; Simsek-Kiper PO; Stoyanova M; Verloes A; De Luca A; Tartaglia M; Cavé H; Zenker M
    Eur J Hum Genet; 2021 Mar; 29(3):524-527. PubMed ID: 33082526
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
    Yamamoto GL; Aguena M; Gos M; Hung C; Pilch J; Fahiminiya S; Abramowicz A; Cristian I; Buscarilli M; Naslavsky MS; Malaquias AC; Zatz M; Bodamer O; Majewski J; Jorge AA; Pereira AC; Kim CA; Passos-Bueno MR; Bertola DR
    J Med Genet; 2015 Jun; 52(6):413-21. PubMed ID: 25795793
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Providing more evidence on LZTR1 variants in Noonan syndrome patients.
    Chinton J; Huckstadt V; Mucciolo M; Lepri F; Novelli A; Gravina LP; Obregon MG
    Am J Med Genet A; 2020 Feb; 182(2):409-414. PubMed ID: 31825158
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
    Brasil AS; Malaquias AC; Wanderley LT; Kim CA; Krieger JE; Jorge AA; Pereira AC; Bertola DR
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):717-22. PubMed ID: 21340158
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
    Johnston JJ; van der Smagt JJ; Rosenfeld JA; Pagnamenta AT; Alswaid A; Baker EH; Blair E; Borck G; Brinkmann J; Craigen W; Dung VC; Emrick L; Everman DB; van Gassen KL; Gulsuner S; Harr MH; Jain M; Kuechler A; Leppig KA; McDonald-McGinn DM; Can NTB; Peleg A; Roeder ER; Rogers RC; Sagi-Dain L; Sapp JC; Schäffer AA; Schanze D; Stewart H; Taylor JC; Verbeek NE; Walkiewicz MA; Zackai EH; Zweier C; ; Zenker M; Lee B; Biesecker LG
    Genet Med; 2018 Oct; 20(10):1175-1185. PubMed ID: 29469822
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
    Fabretto A; Kutsche K; Harmsen MB; Demarini S; Gasparini P; Fertz MC; Zenker M
    Eur J Med Genet; 2010; 53(5):322-4. PubMed ID: 20673819
    [TBL] [Abstract][Full Text] [Related]  

  • 15. External ear anomalies and hearing impairment in Noonan Syndrome.
    van Trier DC; van Nierop J; Draaisma JMT; van der Burgt I; Kunst H; Croonen EA; Admiraal RJC
    Int J Pediatr Otorhinolaryngol; 2015 Jun; 79(6):874-878. PubMed ID: 25862627
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.
    Chen PC; Wakimoto H; Conner D; Araki T; Yuan T; Roberts A; Seidman C; Bronson R; Neel B; Seidman JG; Kucherlapati R
    J Clin Invest; 2010 Dec; 120(12):4353-65. PubMed ID: 21041952
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
    Longoni M; Moncini S; Cisternino M; Morella IM; Ferraiuolo S; Russo S; Mannarino S; Brazzelli V; Coi P; Zippel R; Venturin M; Riva P
    Am J Med Genet A; 2010 Sep; 152A(9):2176-84. PubMed ID: 20683980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
    Li X; Yao R; Tan X; Li N; Ding Y; Li J; Chang G; Chen Y; Ma L; Wang J; Fu L; Wang X
    Clin Genet; 2019 Oct; 96(4):290-299. PubMed ID: 31219622
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.