Fan L, Jiang J, Zhang Y, Han X, Ding W, Xue X
Front Cardiovasc Med. 2025; 12:1490436.
PMID: 39898109
PMC: 11782280.
DOI: 10.3389/fcvm.2025.1490436.
Faienza M, Meliota G, Mentino D, Ficarella R, Gentile M, Vairo U
Genes (Basel). 2024; 15(8).
PMID: 39202376
PMC: 11353738.
DOI: 10.3390/genes15081015.
Liu H, Zheng Y, Huo H, Peng X, Yang J, Ma C
Front Cardiovasc Med. 2024; 11:1378078.
PMID: 39105075
PMC: 11299493.
DOI: 10.3389/fcvm.2024.1378078.
Wada N, Keisuke S, Nomura T, Keira N, Tatsumi T
Eur Heart J Case Rep. 2024; 8(7):ytae309.
PMID: 39006213
PMC: 11245702.
DOI: 10.1093/ehjcr/ytae309.
Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O
Genes (Basel). 2024; 15(3).
PMID: 38540404
PMC: 10970286.
DOI: 10.3390/genes15030345.
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y, Zhang W, Jang H, Nussinov R
Cell Mol Life Sci. 2023; 81(1):5.
PMID: 38085330
PMC: 11072105.
DOI: 10.1007/s00018-023-05052-8.
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F, Adadi N, Amasdl S, Smaili W, Laarabi F, Lyahyai J
J Appl Genet. 2023; 65(2):303-308.
PMID: 37987971
DOI: 10.1007/s13353-023-00803-6.
Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family.
Chan C, Chu M, Lam U, Mok T, Tam W, Tomlinson B
Front Cardiovasc Med. 2023; 10:1225667.
PMID: 37692036
PMC: 10484218.
DOI: 10.3389/fcvm.2023.1225667.
Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.
Yang W, Wang Y, Sirajuddin A, He J, Wu W, Sun X
Radiol Cardiothorac Imaging. 2023; 5(1):e220218.
PMID: 36860839
PMC: 9969215.
DOI: 10.1148/ryct.220218.
Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish.
Ma J, Gu Y, Liu J, Song J, Zhou T, Jiang M
Cell Mol Life Sci. 2022; 80(1):19.
PMID: 36574072
PMC: 11073085.
DOI: 10.1007/s00018-022-04669-5.
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A, Talebi T, Ghasemi S, Pourirahim M, Naderi N, Maleki M
Eur J Med Res. 2022; 27(1):286.
PMID: 36496429
PMC: 9737984.
DOI: 10.1186/s40001-022-00920-8.
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N, Gomes M, Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D
Appl Clin Genet. 2022; 15:153-170.
PMID: 36304179
PMC: 9595068.
DOI: 10.2147/TACG.S372761.
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi J, Perla S, Bennett A
Cardiovasc Drugs Ther. 2022; 37(6):1193-1204.
PMID: 35156148
PMC: 11726350.
DOI: 10.1007/s10557-022-07324-0.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton D, Wu C
Genet Med. 2021; 24(2):307-318.
PMID: 34906515
PMC: 8876311.
DOI: 10.1016/j.gim.2021.09.010.
Determining folding and binding properties of the C-terminal SH2 domain of SHP2.
Nardella C, Malagrino F, Pagano L, Rinaldo S, Gianni S, Toto A
Protein Sci. 2021; 30(12):2385-2395.
PMID: 34605082
PMC: 8605372.
DOI: 10.1002/pro.4201.
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota J, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar S, Puttamallesh V
BMC Med Genet. 2020; 21(1):50.
PMID: 32164556
PMC: 7068896.
DOI: 10.1186/s12881-020-0986-5.
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb B
Am J Med Genet C Semin Med Genet. 2020; 184(1):73-80.
PMID: 32022400
PMC: 7682536.
DOI: 10.1002/ajmg.c.31765.
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Simcikova D, Heneberg P
Sci Rep. 2019; 9(1):18577.
PMID: 31819097
PMC: 6901466.
DOI: 10.1038/s41598-019-54976-4.
Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report.
Eichhorn C, Voges I, Daubeney P
J Med Case Rep. 2019; 13(1):194.
PMID: 31208451
PMC: 6572739.
DOI: 10.1186/s13256-019-2096-6.
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate.
El Bouchikhi I, Belhassan K, Moufid F, Houssaini M, Bouguenouch L, Samri I
Int J Pediatr Adolesc Med. 2019; 3(4):133-142.
PMID: 30805484
PMC: 6372459.
DOI: 10.1016/j.ijpam.2016.06.003.