141 related articles for article (PubMed ID: 22207399)
21. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients.
Kinoshita K; Hirota S; Isozaki K; Ohashi A; Nishida T; Kitamura Y; Shinomura Y; Matsuzawa Y
J Pathol; 2004 Jan; 202(1):80-5. PubMed ID: 14694524
[TBL] [Abstract][Full Text] [Related]
22. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
De Luca A; Bottillo I; Dasdia MC; Morella A; Lanari V; Bernardini L; Divona L; Giustini S; Sinibaldi L; Novelli A; Torrente I; Schirinzi A; Dallapiccola B
J Med Genet; 2007 Dec; 44(12):800-8. PubMed ID: 18055911
[TBL] [Abstract][Full Text] [Related]
23. Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Brinckmann A; Mischung C; Bässmann I; Kühnisch J; Schuelke M; Tinschert S; Nürnberg P
Electrophoresis; 2007 Dec; 28(23):4295-301. PubMed ID: 18041031
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA; Kim YE; Kim SK; Lee MK; Kim JW; Ki CS
J Hum Genet; 2016 Aug; 61(8):705-9. PubMed ID: 27074763
[TBL] [Abstract][Full Text] [Related]
26. Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.
Nemoto H; Tate G; Schirinzi A; Suzuki T; Sasaya S; Yoshizawa Y; Midorikawa T; Mitsuya T; Dallapiccola B; Sanada Y
J Gastroenterol; 2006 Apr; 41(4):378-82. PubMed ID: 16741618
[TBL] [Abstract][Full Text] [Related]
27. [Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1].
Zhao X; Cai L; Zhang L; Wang P; Zhang G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):871-874. PubMed ID: 32761598
[TBL] [Abstract][Full Text] [Related]
28. [Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].
Zhao X; Zhou Q; Cai L; Zhao Z; Zhang L; Wang P; Zhang G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):489-492. PubMed ID: 30098240
[TBL] [Abstract][Full Text] [Related]
29. Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
Buske A; Gewies A; Lehmann R; Rüther K; Algermissen B; Nürnberg P; Tinschert S
Am J Med Genet; 1999 Oct; 86(4):328-30. PubMed ID: 10494088
[TBL] [Abstract][Full Text] [Related]
30. [Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I].
Zhang Q; Liang Y; Gao A; Duan C; Ding Y; Pan Y; Qiao L; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb; 36(2):132-135. PubMed ID: 30703230
[TBL] [Abstract][Full Text] [Related]
31. Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
Hudson J; Wu CL; Tassabehji M; Summers EM; Simon S; Super M; Donnai D; Thakker N
Hum Mutat; 1997; 9(4):366-7. PubMed ID: 9101300
[No Abstract] [Full Text] [Related]
32. Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.
Robinson PN; Böddrich A; Peters H; Tinschert S; Buske A; Kaufmann D; Nürnberg P
Hum Genet; 1995 Jul; 96(1):95-8. PubMed ID: 7607663
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C; Lezana Rosales JM; López Montiel J; Andrés Garrido LD; Sánchez Linares C; Carmona Tamajón S; Torres Fernández C; Sánchez González P; Franco Freire S; Benito López C; López Siles J
Ann Hum Genet; 2018 Nov; 82(6):425-436. PubMed ID: 30014477
[TBL] [Abstract][Full Text] [Related]
35. Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.
Peters H; Lüder A; Harder A; Schuelke M; Tinschert S
Hum Mutat; 1999; 13(3):258. PubMed ID: 10090487
[TBL] [Abstract][Full Text] [Related]
36. A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.
Shen MH; Upadhyaya M
Hum Genet; 1993 Oct; 92(4):410-2. PubMed ID: 8225323
[TBL] [Abstract][Full Text] [Related]
37. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C
Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374
[TBL] [Abstract][Full Text] [Related]
38. Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation.
Liang JT; Huo LR; Bao YH; Wang ZY; Ling F
Neurosci Bull; 2013 Dec; 29(6):708-14. PubMed ID: 24218100
[TBL] [Abstract][Full Text] [Related]
39. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R; Hoffmeyer S; Mischung C; Gille C; Ehlers C; Kücükceylan N; Abdel-Nour M; Gewies A; Peters H; Kaufmann D; Buske A; Tinschert S; Nürnberg P
Am J Hum Genet; 2000 Mar; 66(3):790-818. PubMed ID: 10712197
[TBL] [Abstract][Full Text] [Related]
40. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]