Similar articles for PMID: 10721679

Year	Number of Results
1991	2
1992	6
1993	9
1994	17
1995	13
1996	14
1997	16
1998	8
1999	16
2000	14
2001	17
2002	18
2003	12
2004	15
2005	11
2006	16
2007	21
2008	18
2009	24
2010	22
2011	19
2012	18
2013	13
2014	17
2015	22
2016	11
2017	12
2018	10
2019	8
2020	6
2021	9
2022	9
2023	3
2024	0

1

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S. Chikumi H, et al. J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027. J Hum Genet. 2000. PMID: 10721679

2

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.

Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Rommel K, et al. Hum Mutat. 2002 Nov;20(5):406-7. doi: 10.1002/humu.9075. Hum Mutat. 2002. PMID: 12402346

3

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. Matsukawa R, et al. Hum Mutat. 2001;17(1):71-2. doi: 10.1002/1098-1004(2001)17:1<71::AID-HUMU9>3.0.CO;2-0. Hum Mutat. 2001. PMID: 11139245

4

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Wang M, et al. J Med Genet. 1996 Sep;33(9):760-3. doi: 10.1136/jmg.33.9.760. J Med Genet. 1996. PMID: 8880577 Free PMC article.

5

A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients.

Evangelisti L, Lucarini L, Attanasio M, Lapini I, Giusti B, Porciani C, Gensini GF, Abbate R, Pepe G. Evangelisti L, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):299-302. doi: 10.1016/j.ejmg.2010.06.002. Epub 2010 Jun 9. Eur J Med Genet. 2010. PMID: 20538085

6

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M. Rommel K, et al. Hum Mutat. 2005 Dec;26(6):529-39. doi: 10.1002/humu.20239. Hum Mutat. 2005. PMID: 16220557

7

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Putnam EA, et al. Am J Med Genet. 1996 Mar 29;62(3):233-42. doi: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882780

8

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.

Singh KK, Elligsen D, Liersch R, Schubert S, Pabst B, Arslan-Kirchner M, Schmidtke J. Singh KK, et al. J Mol Cell Cardiol. 2007 Feb;42(2):352-6. doi: 10.1016/j.yjmcc.2006.11.006. Epub 2006 Dec 26. J Mol Cell Cardiol. 2007. PMID: 17189636

9

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B. Tjeldhorn L, et al. BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4. BMC Med Genet. 2015. PMID: 26684006 Free PMC article.

10

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.

Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Booms P, et al. Clin Genet. 1999 Feb;55(2):110-7. doi: 10.1034/j.1399-0004.1999.550207.x. Clin Genet. 1999. PMID: 10189088

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