Similar articles for PMID: 9195229

Year	Number of Results
1990	1
1991	3
1992	8
1993	21
1994	25
1995	20
1996	20
1997	17
1998	13
1999	14
2000	18
2001	8
2002	9
2003	9
2004	7
2005	4
2006	11
2007	10
2008	7
2009	9
2010	4
2011	8
2012	5
2013	7
2014	7
2015	5
2016	6
2017	3
2018	7
2019	1
2020	1
2021	5
2024	0

1

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR. Abernathy CR, et al. Hum Mutat. 1997;9(6):548-54. doi: 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y. Hum Mutat. 1997. PMID: 9195229

2

Molecular analysis of neurofibromatosis type 1 mutations.

Weiming X, Yu Q, Lizhi L, Ponder M, Wallace M, Gangfeng X, Ponder B. Weiming X, et al. Hum Mutat. 1992;1(6):474-7. doi: 10.1002/humu.1380010604. Hum Mutat. 1992. PMID: 1301957

3

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

Abernathy CR, Colman SD, Kousseff BG, Wallace MR. Abernathy CR, et al. Hum Mutat. 1994;3(4):347-52. doi: 10.1002/humu.1380030404. Hum Mutat. 1994. PMID: 8081387

4

NF1 gene analysis based on DHPLC.

De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B. De Luca A, et al. Hum Mutat. 2003 Feb;21(2):171-2. doi: 10.1002/humu.9111. Hum Mutat. 2003. PMID: 12552569

5

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Messiaen LM, et al. Hum Mutat. 2000;15(6):541-55. doi: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10862084

6

NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1).

Hatta N, Horiuchi T, Watanabe I, Kobayashi Y, Shirakata Y, Ohtsuka H, Minami T, Ueda K, Kokoroishi T, Fujita S. Hatta N, et al. Biochem Biophys Res Commun. 1995 Jul 17;212(2):697-704. doi: 10.1006/bbrc.1995.2025. Biochem Biophys Res Commun. 1995. PMID: 7542886

7

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. Thiselton DL, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24. Invest Ophthalmol Vis Sci. 2002. PMID: 12036970 Free article.

8

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, La Rosa C, Garrè C, Coviello DA, Ajmar F, Dallapiccola B, Bonioli E. Origone P, et al. Hum Mutat. 2002 Jul;20(1):74-5. doi: 10.1002/humu.9039. Hum Mutat. 2002. PMID: 12112660

9

Alport syndrome. Molecular genetic aspects.

Hertz JM. Hertz JM. Dan Med Bull. 2009 Aug;56(3):105-52. Dan Med Bull. 2009. PMID: 19728970

10

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. Peters H, et al. Hum Mutat. 1999;13(3):258. doi: 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1. Hum Mutat. 1999. PMID: 10090487

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