317 related articles for article (PubMed ID: 29165300)
1. FOXI2: a possible gene contributing to ectodermal dysplasia.
Kurban M; Zeineddine SB; Hamie L; Safi R; Abbas O; Kibbi AG; Bitar F; Nemer G
Eur J Dermatol; 2017 Dec; 27(6):641-645. PubMed ID: 29165300
[TBL] [Abstract][Full Text] [Related]
2. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
Allanson JE
Am J Med Genet A; 2016 Oct; 170(10):2570-7. PubMed ID: 27155212
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J; Huckstadt V; Moresco A; Gravina LP; Obregon MG
Arch Argent Pediatr; 2019 Oct; 117(5):330-337. PubMed ID: 31560489
[TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Şimşek-Kiper PÖ; Alanay Y; Gülhan B; Lissewski C; Türkyilmaz D; Alehan D; Cetin M; Utine GE; Zenker M; Boduroğlu K
Clin Genet; 2013 Feb; 83(2):181-6. PubMed ID: 22420426
[TBL] [Abstract][Full Text] [Related]
5. Autism traits in the RASopathies.
Adviento B; Corbin IL; Widjaja F; Desachy G; Enrique N; Rosser T; Risi S; Marco EJ; Hendren RL; Bearden CE; Rauen KA; Weiss LA
J Med Genet; 2014 Jan; 51(1):10-20. PubMed ID: 24101678
[TBL] [Abstract][Full Text] [Related]
6. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
Myers A; Bernstein JA; Brennan ML; Curry C; Esplin ED; Fisher J; Homeyer M; Manning MA; Muller EA; Niemi AK; Seaver LH; Hintz SR; Hudgins L
Am J Med Genet A; 2014 Nov; 164A(11):2814-21. PubMed ID: 25250515
[TBL] [Abstract][Full Text] [Related]
7. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Kratz CP; Franke L; Peters H; Kohlschmidt N; Kazmierczak B; Finckh U; Bier A; Eichhorn B; Blank C; Kraus C; Kohlhase J; Pauli S; Wildhardt G; Kutsche K; Auber B; Christmann A; Bachmann N; Mitter D; Cremer FW; Mayer K; Daumer-Haas C; Nevinny-Stickel-Hinzpeter C; Oeffner F; Schlüter G; Gencik M; Überlacker B; Lissewski C; Schanze I; Greene MH; Spix C; Zenker M
Br J Cancer; 2015 Apr; 112(8):1392-7. PubMed ID: 25742478
[TBL] [Abstract][Full Text] [Related]
8. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
Seemanová E; Zenker M
Cas Lek Cesk; 2014; 153(5):242-5. PubMed ID: 25370770
[TBL] [Abstract][Full Text] [Related]
9. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.
Cizmarova M; Kostalova L; Pribilincova Z; Lasabova Z; Hlavata A; Kovacs L; Ilencikova D
Endocr Regul; 2013 Oct; 47(4):217-22. PubMed ID: 24156711
[TBL] [Abstract][Full Text] [Related]
10. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT; Luk HM; Leung GKC; Mak CCY; Cheng SSW; Hau EWL; Chan DKH; Lam STS; Tong TMF; Chung BHY; Lo IFM
Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080
[TBL] [Abstract][Full Text] [Related]
11. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
Ueda K; Yaoita M; Niihori T; Aoki Y; Okamoto N
Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Noonan syndrome and clinically related disorders.
Tartaglia M; Gelb BD; Zenker M
Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):161-79. PubMed ID: 21396583
[TBL] [Abstract][Full Text] [Related]
14. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Leung GKC; Luk HM; Tang VHM; Gao WW; Mak CCY; Yu MHC; Wong WL; Chu YWY; Yang WL; Wong WHS; Ma ACH; Leung AYH; Jin DY; Chan KYK; Allanson J; Lo IFM; Chung BHY
Sci Rep; 2018 Feb; 8(1):2421. PubMed ID: 29402968
[TBL] [Abstract][Full Text] [Related]
15. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Lee CL; Tan LTH; Lin HY; Hwu WL; Lee NC; Chien YH; Chuang CK; Wu MH; Wang JK; Chu SY; Lin JL; Lo FS; Su PH; Hsu CC; Ko YY; Chen MR; Chiu HC; Lin SP
Am J Med Genet A; 2020 Feb; 182(2):357-364. PubMed ID: 31837205
[TBL] [Abstract][Full Text] [Related]
16. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
Morcaldi G; Bellini T; Rossi C; Maghnie M; Boccardo F; Bonioli E; Bellini C
Lymphology; 2015 Sep; 48(3):121-7. PubMed ID: 26939159
[TBL] [Abstract][Full Text] [Related]
17. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME; Magoulas PL; Adi S; Kavamura MI; Neri G; Noonan J; Pierpont EI; Reinker K; Roberts AE; Shankar S; Sullivan J; Wolford M; Conger B; Santa Cruz M; Rauen KA
Pediatrics; 2014 Oct; 134(4):e1149-62. PubMed ID: 25180280
[TBL] [Abstract][Full Text] [Related]
18. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
Ezquieta B; Santomé JL; Carcavilla A; Guillén-Navarro E; Pérez-Aytés A; Sánchez del Pozo J; García-Miñaur S; Castillo E; Alonso M; Vendrell T; Santana A; Maroto E; Galbis L
Rev Esp Cardiol (Engl Ed); 2012 May; 65(5):447-55. PubMed ID: 22465605
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
Carcavilla A; García-Miñaúr S; Pérez-Aytés A; Vendrell T; Pinto I; Guillén-Navarro E; González-Meneses A; Aoki Y; Grinberg D; Ezquieta B
Med Clin (Barc); 2015 Jan; 144(2):67-72. PubMed ID: 25194980
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
