52 related articles for article (PubMed ID: 28607217)
1. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
Narayanan DL; Pandey H; Moirangthem A; Mandal K; Gupta R; Puri RD; Patil SJ; Phadke SR
Indian Pediatr; 2017 Aug; 54(8):638-643. PubMed ID: 28607217
[TBL] [Abstract][Full Text] [Related]
2. Spectrum of Mutations in
Orlova A; Guseva D; Demina N; Polyakov A; Ryzhkova O
Genes (Basel); 2024 Mar; 15(3):. PubMed ID: 38540404
[TBL] [Abstract][Full Text] [Related]
3. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
Pugliese A; Della Marina A; de Paula Estephan E; Zanoteli E; Roos A; Schara-Schmidt U; Hentschel A; Azuma Y; Töpf A; Thompson R; Polavarapu K; Lochmüller H
J Neurol; 2024 Mar; 271(3):1331-1341. PubMed ID: 37923938
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Clinical Variability in a Family with Noonan Syndrome with a Homozygous
Yıldırım R; Unal E; Özalkak Ş; Akalın A; Aykut A; Yılmaz N
J Clin Res Pediatr Endocrinol; 2024 Mar; 16(1):76-83. PubMed ID: 37847107
[TBL] [Abstract][Full Text] [Related]
6. A case report of myelodysplastic syndrome in a patient with PTPN11-related Noonan syndrome.
Wiedl C; Bornhorst M; Cheng J; Jacobsohn D
Pediatr Blood Cancer; 2024 Jul; 71(7):e30948. PubMed ID: 38605585
[No Abstract] [Full Text] [Related]
7. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ; van der Smagt JJ; Rosenfeld JA; Pagnamenta AT; Alswaid A; Baker EH; Blair E; Borck G; Brinkmann J; Craigen W; Dung VC; Emrick L; Everman DB; van Gassen KL; Gulsuner S; Harr MH; Jain M; Kuechler A; Leppig KA; McDonald-McGinn DM; Can NTB; Peleg A; Roeder ER; Rogers RC; Sagi-Dain L; Sapp JC; Schäffer AA; Schanze D; Stewart H; Taylor JC; Verbeek NE; Walkiewicz MA; Zackai EH; Zweier C; ; Zenker M; Lee B; Biesecker LG
Genet Med; 2018 Oct; 20(10):1175-1185. PubMed ID: 29469822
[TBL] [Abstract][Full Text] [Related]
8. The language phenotype of children and adolescents with Noonan syndrome.
Pierpont EI; Ellis Weismer S; Roberts AE; Tworog-Dube E; Pierpont ME; Mendelsohn NJ; Seidenberg MS
J Speech Lang Hear Res; 2010 Aug; 53(4):917-32. PubMed ID: 20543023
[TBL] [Abstract][Full Text] [Related]
9. A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Goodship JA; Hall D; Topf A; Mamasoula C; Griffin H; Rahman TJ; Glen E; Tan H; Palomino Doza J; Relton CL; Bentham J; Bhattacharya S; Cosgrove C; Brook D; Granados-Riveron J; Bu'Lock FA; O'Sullivan J; Stuart AG; Parsons J; Cordell HJ; Keavney B
Circ Cardiovasc Genet; 2012 Jun; 5(3):287-92. PubMed ID: 22503907
[TBL] [Abstract][Full Text] [Related]
10. Images of the month 2: A leopard never changes its spots.
Denny JW; Krishna S; Valiallah N; Fogo A; Natkunarajah J
Clin Med (Lond); 2020 Mar; 20(2):231-232. PubMed ID: 32188669
[No Abstract] [Full Text] [Related]
11. The first reported case of Noonan syndrome complicated with hepatocellular carcinoma.
Kakizaki S; Uehara D; Tojima H; Suga T; Yamazaki Y; Sato K; Kubo N; Shirabe K; Yokota T; Shibuya K; Maehara T; Yokoo H; Naganuma A; Uraoka T
Clin Case Rep; 2021 Jul; 9(7):e04317. PubMed ID: 34267897
[TBL] [Abstract][Full Text] [Related]
12. A novel variant in the PTPN11 gene c.1277A>G p.(His426Arg) in a patient with Noonan Syndrome with Multiple Lentigines.
Kuo O; Molloy K; Sabir A; Fleming A; Edwards M; Morris-Rosendahl D; Fassihi H; Preston P
Clin Exp Dermatol; 2024 Apr; ():. PubMed ID: 38634779
[No Abstract] [Full Text] [Related]
13. Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y; Ida S; Niihori T; Aoki Y; Okamoto N; Etani Y; Kawai M
Endocr J; 2019 Nov; 66(11):983-994. PubMed ID: 31292302
[TBL] [Abstract][Full Text] [Related]
14. High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F; Adadi N; Amasdl S; Smaili W; Laarabi FZ; Lyahyai J; Sefiani A; Ratbi I
J Appl Genet; 2024 May; 65(2):303-308. PubMed ID: 37987971
[TBL] [Abstract][Full Text] [Related]
15.
Watanabe D; Hasebe Y; Kasai S; Shinohara T; Maebayashi Y; Katsumata N; Nemoto A; Naitoh A
Nagoya J Med Sci; 2022 Nov; 84(4):871-876. PubMed ID: 36544606
[TBL] [Abstract][Full Text] [Related]
16. 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; Kalayinia S
Eur J Med Res; 2022 Dec; 27(1):286. PubMed ID: 36496429
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh AL; Tan ES; Brett MS; Lai AHM; Jamuar SS; Ng I; Tan EC
Mol Genet Genomic Med; 2019 Apr; 7(4):e00581. PubMed ID: 30784236
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]