316 related articles for article (PubMed ID: 16380919)
1. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A; Bottillo I; Sarkozy A; Carta C; Neri C; Bellacchio E; Schirinzi A; Conti E; Zampino G; Battaglia A; Majore S; Rinaldi MM; Carella M; Marino B; Pizzuti A; Digilio MC; Tartaglia M; Dallapiccola B
Am J Hum Genet; 2005 Dec; 77(6):1092-101. PubMed ID: 16380919
[TBL] [Abstract][Full Text] [Related]
2. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
3. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
[TBL] [Abstract][Full Text] [Related]
4. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.
Hüffmeier U; Zenker M; Hoyer J; Fahsold R; Rauch A
Am J Med Genet A; 2006 Dec; 140(24):2749-56. PubMed ID: 17103458
[TBL] [Abstract][Full Text] [Related]
5. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
Nyström AM; Ekvall S; Allanson J; Edeby C; Elinder M; Holmström G; Bondeson ML; Annerén G
Clin Genet; 2009 Dec; 76(6):524-34. PubMed ID: 19845691
[TBL] [Abstract][Full Text] [Related]
6. Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
Baralle D; Mattocks C; Kalidas K; Elmslie F; Whittaker J; Lees M; Ragge N; Patton MA; Winter RM; ffrench-Constant C
Am J Med Genet A; 2003 May; 119A(1):1-8. PubMed ID: 12707950
[TBL] [Abstract][Full Text] [Related]
7. Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
Ben-Shachar S; Constantini S; Hallevi H; Sach EK; Upadhyaya M; Evans GD; Huson SM
Eur J Hum Genet; 2013 May; 21(5):535-9. PubMed ID: 23047742
[TBL] [Abstract][Full Text] [Related]
8. A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
Yimenicioğlu S; Yakut A; Karaer K; Zenker M; Ekici A; Carman KB
Childs Nerv Syst; 2012 Dec; 28(12):2181-3. PubMed ID: 22965773
[TBL] [Abstract][Full Text] [Related]
9. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H
Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
Stevenson DA; Viskochil DH; Rope AF; Carey JC
Clin Genet; 2006 Mar; 69(3):246-53. PubMed ID: 16542390
[TBL] [Abstract][Full Text] [Related]
11. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
Bertola DR; Pereira AC; Passetti F; de Oliveira PS; Messiaen L; Gelb BD; Kim CA; Krieger JE
Am J Med Genet A; 2005 Jul; 136(3):242-5. PubMed ID: 15948193
[TBL] [Abstract][Full Text] [Related]
12. Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?
Yapijakis C; Pachis N; Natsis S; Voumvourakis C
In Vivo; 2016; 30(3):315-20. PubMed ID: 27107091
[TBL] [Abstract][Full Text] [Related]
13. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
Bahuau M; Houdayer C; Assouline B; Blanchet-Bardon C; Le Merrer M; Lyonnet S; Giraud S; Récan D; Lakhdar H; Vidaud M; Vidaud D
Am J Med Genet; 1998 Jan; 75(3):265-72. PubMed ID: 9475595
[TBL] [Abstract][Full Text] [Related]
14. Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report.
Zhang Z; Chen X; Zhou R; Yin H; Xu J
BMC Pediatr; 2020 May; 20(1):190. PubMed ID: 32357851
[TBL] [Abstract][Full Text] [Related]
15. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
Tassabehji M; Strachan T; Sharland M; Colley A; Donnai D; Harris R; Thakker N
Am J Hum Genet; 1993 Jul; 53(1):90-5. PubMed ID: 8317503
[TBL] [Abstract][Full Text] [Related]
16. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
Bahuau M; Flintoff W; Assouline B; Lyonnet S; Le Merrer M; Prieur M; Guilloud-Bataille M; Feingold N; Munnich A; Vidaud M; Vidaud D
Am J Med Genet; 1996 Dec; 66(3):347-55. PubMed ID: 8985499
[TBL] [Abstract][Full Text] [Related]
17. Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Dalili S; Hoseini Nouri SA; Bayat R; Koohmanaee S; Tabrizi M; Zarkesh M; Tarang A; Mahdieh N
Hum Genomics; 2023 Feb; 17(1):12. PubMed ID: 36803953
[TBL] [Abstract][Full Text] [Related]
18. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A; Rosano C; Pannone L; Pinna V; Assunto A; Motta M; Ugga L; Daniele P; Mandile R; Mariniello L; Siano MA; Santoro C; Piluso G; Martinelli S; Strisciuglio P; De Luca A; Tartaglia M; Melis D
Clin Genet; 2021 Nov; 100(5):563-572. PubMed ID: 34346503
[TBL] [Abstract][Full Text] [Related]
19. A Novel Heterozygous
Qin S; Zhang Y; Yu F; Ni Y; Zhong J
J Clin Res Pediatr Endocrinol; 2023 Nov; 15(4):438-443. PubMed ID: 35633639
[TBL] [Abstract][Full Text] [Related]
20. Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.
Pasmant E; Amiel J; Rodriguez D; Vidaud M; Vidaud D; Parfait B
Am J Med Genet A; 2012 Sep; 158A(9):2290-1. PubMed ID: 22847776
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
