262 related articles for article (PubMed ID: 26173643)
1. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu V; Yin JC; Gunnarsson C; Virtanen C; Drunat S; Lepri F; De Luca A; Rossi C; Ciolfi A; Pugh TJ; Bruselles A; Priest JR; Pennacchio LA; Lu Z; Danesh A; Quevedo R; Hamid A; Martinelli S; Pantaleoni F; Gnazzo M; Daniele P; Lissewski C; Bocchinfuso G; Stella L; Odent S; Philip N; Faivre L; Vlckova M; Seemanova E; Digilio C; Zenker M; Zampino G; Verloes A; Dallapiccola B; Roberts AE; Cavé H; Gelb BD; Neel BG; Tartaglia M
Hum Mutat; 2015 Nov; 36(11):1080-7. PubMed ID: 26173643
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M; Pennacchio LA; Zhao C; Yadav KK; Fodale V; Sarkozy A; Pandit B; Oishi K; Martinelli S; Schackwitz W; Ustaszewska A; Martin J; Bristow J; Carta C; Lepri F; Neri C; Vasta I; Gibson K; Curry CJ; Siguero JP; Digilio MC; Zampino G; Dallapiccola B; Bar-Sagi D; Gelb BD
Nat Genet; 2007 Jan; 39(1):75-9. PubMed ID: 17143282
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S; De Luca A; Stellacci E; Rossi C; Checquolo S; Lepri F; Caputo V; Silvano M; Buscherini F; Consoli F; Ferrara G; Digilio MC; Cavaliere ML; van Hagen JM; Zampino G; van der Burgt I; Ferrero GB; Mazzanti L; Screpanti I; Yntema HG; Nillesen WM; Savarirayan R; Zenker M; Dallapiccola B; Gelb BD; Tartaglia M
Am J Hum Genet; 2010 Aug; 87(2):250-7. PubMed ID: 20619386
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F; De Luca A; Stella L; Rossi C; Baldassarre G; Pantaleoni F; Cordeddu V; Williams BJ; Dentici ML; Caputo V; Venanzi S; Bonaguro M; Kavamura I; Faienza MF; Pilotta A; Stanzial F; Faravelli F; Gabrielli O; Marino B; Neri G; Silengo MC; Ferrero GB; Torrrente I; Selicorni A; Mazzanti L; Digilio MC; Zampino G; Dallapiccola B; Gelb BD; Tartaglia M
Hum Mutat; 2011 Jul; 32(7):760-72. PubMed ID: 21387466
[TBL] [Abstract][Full Text] [Related]
11. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
Tumurkhuu M; Saitoh M; Sato A; Takahashi K; Mimaki M; Takita J; Takeshita K; Hama T; Oka A; Mizuguchi M
Pediatr Int; 2010 Aug; 52(4):557-62. PubMed ID: 20030748
[TBL] [Abstract][Full Text] [Related]
12. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y; Aoki Y; Niihori T; Sakurai M; Cavé H; Verloes A; Nishio K; Ohashi H; Kurosawa K; Okamoto N; Kawame H; Mizuno S; Kondoh T; Addor MC; Coeslier-Dieux A; Vincent-Delorme C; Tabayashi K; Aoki M; Kobayashi T; Guliyeva A; Kure S; Matsubara Y
J Hum Genet; 2008; 53(9):834-841. PubMed ID: 18651097
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M; Kalidas K; Shaw A; Song X; Musat DL; van der Burgt I; Brunner HG; Bertola DR; Crosby A; Ion A; Kucherlapati RS; Jeffery S; Patton MA; Gelb BD
Am J Hum Genet; 2002 Jun; 70(6):1555-63. PubMed ID: 11992261
[TBL] [Abstract][Full Text] [Related]
15. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Capri Y; Flex E; Krumbach OHF; Carpentieri G; Cecchetti S; Lißewski C; Rezaei Adariani S; Schanze D; Brinkmann J; Piard J; Pantaleoni F; Lepri FR; Goh ES; Chong K; Stieglitz E; Meyer J; Kuechler A; Bramswig NC; Sacharow S; Strullu M; Vial Y; Vignal C; Kensah G; Cuturilo G; Kazemein Jasemi NS; Dvorsky R; Monaghan KG; Vincent LM; Cavé H; Verloes A; Ahmadian MR; Tartaglia M; Zenker M
Am J Hum Genet; 2019 Jun; 104(6):1223-1232. PubMed ID: 31130282
[TBL] [Abstract][Full Text] [Related]
16. Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR; Yamamoto GL; Almeida TF; Buscarilli M; Jorge AA; Malaquias AC; Kim CA; Takahashi VN; Passos-Bueno MR; Pereira AC
Am J Med Genet A; 2014 Nov; 164A(11):2952-7. PubMed ID: 25124994
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C; Hanna N; Michot C; Pereira S; Pouvreau N; Niihori T; Aoki Y; Matsubara Y; Arveiler B; Lacombe D; Pasmant E; Parfait B; Baumann C; Héron D; Sigaudy S; Toutain A; Rio M; Goldenberg A; Leheup B; Verloes A; Cavé H
J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260
[TBL] [Abstract][Full Text] [Related]
19. Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
van Trier DC; Rinne T; Noordam K; Draaisma JM; van der Burgt I
Am J Med Genet A; 2017 Nov; 173(11):2968-2972. PubMed ID: 28884940
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
