288 related articles for article (PubMed ID: 24891296)
1. 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]
2. Paternally Inherited Noonan Syndrome Caused by a
Han JY; Park J
Genes (Basel); 2024 Mar; 15(4):. PubMed ID: 38674380
[TBL] [Abstract][Full Text] [Related]
3. Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Lorca R; Pannone L; Cuesta-Llavona E; Bocchinfuso G; Rodríguez-Reguero J; Carpentieri G; Hernando I; Flex E; Tartaglia M; Coto E; Gómez J; Martinelli S
Clin Genet; 2021 Mar; 99(3):457-461. PubMed ID: 33354767
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.
Zheng H; Yu WM; Waclaw RR; Kontaridis MI; Neel BG; Qu CK
Sci Signal; 2018 Mar; 11(522):. PubMed ID: 29559584
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Digilio MC; Conti E; Sarkozy A; Mingarelli R; Dottorini T; Marino B; Pizzuti A; Dallapiccola B
Am J Hum Genet; 2002 Aug; 71(2):389-94. PubMed ID: 12058348
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
Kontaridis MI; Swanson KD; David FS; Barford D; Neel BG
J Biol Chem; 2006 Mar; 281(10):6785-92. PubMed ID: 16377799
[TBL] [Abstract][Full Text] [Related]
15. Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
Bonetti M; Paardekooper Overman J; Tessadori F; Noël E; Bakkers J; den Hertog J
Development; 2014 May; 141(9):1961-70. PubMed ID: 24718990
[TBL] [Abstract][Full Text] [Related]
16. [
Xu HY; Yuan YY; Dai P
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep; 33(9):830-834. PubMed ID: 31446698
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
Gilbert-Dussardier B; Briand-Suleau A; Laurendeau I; Bilan F; Cavé H; Verloes A; Vidaud M; Vidaud D; Pasmant E
Orphanet J Rare Dis; 2016 Jul; 11(1):101. PubMed ID: 27450488
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]