293 related articles for article (PubMed ID: 30417923)
1. Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Bessis D; Miquel J; Bourrat E; Chiaverini C; Morice-Picard F; Abadie C; Manna F; Baumann C; Best M; Blanchet P; Bursztejn AC; Capri Y; Coubes C; Giuliano F; Guillaumont S; Hadj-Rabia S; Jacquemont ML; Jeandel C; Lacombe D; Mallet S; Mazereeuw-Hautier J; Molinari N; Pallure V; Pernet C; Philip N; Pinson L; Sarda P; Sigaudy S; Vial Y; Willems M; Geneviève D; Verloes A; Cavé H
Br J Dermatol; 2019 Jun; 180(6):1438-1448. PubMed ID: 30417923
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
Edwards JJ; Martinelli S; Pannone L; Lo IF; Shi L; Edelmann L; Tartaglia M; Luk HM; Gelb BD
Am J Med Genet A; 2014 Sep; 164A(9):2351-5. PubMed ID: 24891296
[TBL] [Abstract][Full Text] [Related]
6. Congenital sensorineural hearing loss as the initial presentation of
Gao X; Huang SS; Qiu SW; Su Y; Wang WQ; Xu HY; Xu JC; Kang DY; Dai P; Yuan YY
J Med Genet; 2021 Jul; 58(7):465-474. PubMed ID: 32737134
[TBL] [Abstract][Full Text] [Related]
7. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Bessis D; Morice-Picard F; Bourrat E; Abadie C; Aouinti S; Baumann C; Best M; Bursztejn AC; Capri Y; Chiaverini C; Coubes C; Giuliano F; Hadj-Rabia S; Jacquemont ML; Lacombe D; Lyonnet S; Mallet S; Mazereeuw-Hautier J; Miquel J; Molinari N; Parfait B; Pernet C; Philip N; Pinson L; Pouvreau N; Vial Y; Sarda P; Sigaudy S; Verloes A; Cavé H; Geneviève D
Br J Dermatol; 2019 Jan; 180(1):172-180. PubMed ID: 30141192
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.
Kauffman H; Ahrens-Nicklas RC; Calderon-Anyosa RJC; Ritter AL; Lin KY; Rossano JW; Quartermain MD; Banerjee A
Pediatr Res; 2021 Aug; 90(2):444-451. PubMed ID: 33318624
[TBL] [Abstract][Full Text] [Related]
9. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Brasil AS; Pereira AC; Wanderley LT; Kim CA; Malaquias AC; Jorge AA; Krieger JE; Bertola DR
Genet Test Mol Biomarkers; 2010 Jun; 14(3):425-32. PubMed ID: 20578946
[TBL] [Abstract][Full Text] [Related]
10. Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR; de Almeida TF; Brasil AS; Pereira AC; Jorge AA; Malaquias AC; Kim CA; Bertola DR
Clinics (Sao Paulo); 2013; 68(8):1079-83. PubMed ID: 24037001
[TBL] [Abstract][Full Text] [Related]
11. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP; Bhat M; Nampoothiri S; Gowrishankar K; Narayanachar SG; Puttamallesh V; Farooque MO; Shetty S
BMC Med Genet; 2020 Mar; 21(1):50. PubMed ID: 32164556
[TBL] [Abstract][Full Text] [Related]
12. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
Ko JM; Kim JM; Kim GH; Yoo HW
J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations in Noonan syndrome.
Zenker M; Buheitel G; Rauch R; Koenig R; Bosse K; Kress W; Tietze HU; Doerr HG; Hofbeck M; Singer H; Reis A; Rauch A
J Pediatr; 2004 Mar; 144(3):368-74. PubMed ID: 15001945
[TBL] [Abstract][Full Text] [Related]
14. Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Noronha RM; Villares SMF; Torres N; Quedas EPS; Homma TK; Albuquerque EVA; Moraes MB; Funari MFA; Bertola DR; Jorge AAL; Malaquias AC
Am J Med Genet A; 2021 Mar; 185(3):774-780. PubMed ID: 33382187
[TBL] [Abstract][Full Text] [Related]
15. Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
van Nierop JWI; van Trier DC; van der Burgt I; Draaisma JMT; Mylanus EAM; Snik AF; Admiraal RJC; Kunst HPM
Int J Pediatr Otorhinolaryngol; 2017 Jun; 97():228-234. PubMed ID: 28483241
[TBL] [Abstract][Full Text] [Related]
16. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Ferreira LV; Souza SC; Montenegro LR; Malaquias AC; Arnhold IJ; Mendonca BB; Jorge AA
Clin Endocrinol (Oxf); 2008 Sep; 69(3):426-31. PubMed ID: 18331608
[TBL] [Abstract][Full Text] [Related]
17. Noonan syndrome: Severe phenotype and PTPN11 mutations.
Carrasco Salas P; Gómez-Molina G; Carreto-Alba P; Granell-Escobar R; Vázquez-Rico I; León-Justel A
Med Clin (Barc); 2019 Jan; 152(2):62-64. PubMed ID: 29703613
[TBL] [Abstract][Full Text] [Related]
18. [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
Ferreira LV; Souza SA; Montenegro LR; Arnhold IJ; Pasqualini T; Heinrich JJ; Keselman AC; Mendonça BB; Jorge AA
Arq Bras Endocrinol Metabol; 2007 Apr; 51(3):450-6. PubMed ID: 17546245
[TBL] [Abstract][Full Text] [Related]
19. Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.
Essawi ML; Ismail MF; Afifi HH; Kobesiy MM; El Kotoury A; Barakat MM
J Formos Med Assoc; 2013 Nov; 112(11):707-12. PubMed ID: 24183200
[TBL] [Abstract][Full Text] [Related]
20. Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
Atik T; Aykut A; Hazan F; Onay H; Goksen D; Darcan S; Tukun A; Ozkinay F
Indian J Pediatr; 2016 Jun; 83(6):517-21. PubMed ID: 26817465
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
