BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 36608738)

  • 1. Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.
    Markholt S; Andreasen L; Bjerre J; Gregersen PA; Andersen BN
    Eur J Med Genet; 2023 Feb; 66(2):104695. PubMed ID: 36608738
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
    Motta M; Fasano G; Gredy S; Brinkmann J; Bonnard AA; Simsek-Kiper PO; Gulec EY; Essaddam L; Utine GE; Guarnetti Prandi I; Venditti M; Pantaleoni F; Radio FC; Ciolfi A; Petrini S; Consoli F; Vignal C; Hepbasli D; Ullrich M; de Boer E; Vissers LELM; Gritli S; Rossi C; De Luca A; Ben Becher S; Gelb BD; Dallapiccola B; Lauri A; Chillemi G; Schuh K; Cavé H; Zenker M; Tartaglia M
    Am J Hum Genet; 2021 Nov; 108(11):2112-2129. PubMed ID: 34626534
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Homozygous Loss-of-Function Variant in
    Onore ME; Caiazza M; Farina A; Scarano G; Budillon A; Borrelli RN; Limongelli G; Nigro V; Piluso G
    Genes (Basel); 2023 Dec; 15(1):. PubMed ID: 38254922
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
    Yu QX; Zhen L; Lin XM; Wen YJ; Li DZ
    Prenat Diagn; 2023 Dec; 43(13):1662-1665. PubMed ID: 37936555
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.
    Yu C; Lyn N; Li D; Mei S; Liu L; Shang Q
    Eur J Med Genet; 2023 Jan; 66(1):104675. PubMed ID: 36460282
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Noonan syndrome-like phenotype associated with an ERF frameshift variant.
    Hirano Y; Kuroda Y; Enomoto Y; Naruto T; Muroya K; Kurosawa K
    Am J Med Genet A; 2024 May; ():e63652. PubMed ID: 38741564
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
    Verheije R; Kupchik GS; Isidor B; Kroes HY; Lynch SA; Hawkes L; Hempel M; Gelb BD; Ghoumid J; D'Amours G; Chandler K; Dubourg C; Loddo S; Tümer Z; Shaw-Smith C; Nizon M; Shevell M; Van Hoof E; Anyane-Yeboa K; Cerbone G; Clayton-Smith J; Cogné B; Corre P; Corveleyn A; De Borre M; Hjortshøj TD; Fradin M; Gewillig M; Goldmuntz E; Hens G; Lemyre E; Journel H; Kini U; Kortüm F; Le Caignec C; Novelli A; Odent S; Petit F; Revah-Politi A; Stong N; Strom TM; van Binsbergen E; ; Devriendt K; Breckpot J
    Eur J Hum Genet; 2019 Feb; 27(2):278-290. PubMed ID: 30291340
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
    Inoue T; Nakamura A; Iwahashi-Odano M; Tanase-Nakao K; Matsubara K; Nishioka J; Maruo Y; Hasegawa Y; Suzumura H; Sato S; Kobayashi Y; Murakami N; Nakabayashi K; Yamazawa K; Fuke T; Narumi S; Oka A; Ogata T; Fukami M; Kagami M
    Clin Epigenetics; 2020 Jun; 12(1):86. PubMed ID: 32546215
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
    Nemcikova M; Vejvalkova S; Fencl F; Sukova M; Krepelova A
    Eur J Pediatr; 2016 Apr; 175(4):587-92. PubMed ID: 26518681
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical Variability in a Family with Noonan Syndrome with a Homozygous
    Yıldırım R; Unal E; Özalkak Ş; Akalın A; Aykut A; Yılmaz N
    J Clin Res Pediatr Endocrinol; 2024 Mar; 16(1):76-83. PubMed ID: 37847107
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.