Similar articles for PMID: 19615667

Year	Number of Results
1998	1
1999	2
2000	3
2001	2
2002	3
2003	3
2004	3
2005	5
2006	2
2007	1
2008	3
2009	3
2010	7
2011	6
2012	8
2013	6
2014	10
2015	8
2016	5
2017	8
2018	9
2019	7
2021	4
2022	2
2024	0

1

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B. Lausch E, et al. Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615667 Free PMC article.

2

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Song C, Li N, Hu X, Shi Y, Chen L, Zhou T, Xu X, Shen J, Zhu M. Song C, et al. Eur J Med Genet. 2019 Nov;62(11):103575. doi: 10.1016/j.ejmg.2018.11.009. Epub 2018 Nov 12. Eur J Med Genet. 2019. PMID: 30439533

3

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. Bonafé L, et al. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648384

4

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA. Li D, et al. Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781753 Free PMC article.

5

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Sharony R, Borochowitz Z, Cohen L, Shtorch-Asor A, Rosenfeld R, Modai S, Reinstein E. Sharony R, et al. Clin Genet. 2017 Dec;92(6):645-648. doi: 10.1111/cge.13020. Epub 2017 Aug 3. Clin Genet. 2017. PMID: 28342220

6

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.

Bonilla-Fornés S, Galán-Ledesma L, Pérez PM, Modamio-Høybjør S, Carbonell-Pérez JM, Parrón-Pajares M, Heath KE, Galán-Gómez E. Bonilla-Fornés S, et al. Eur J Med Genet. 2021 Oct;64(10):104307. doi: 10.1016/j.ejmg.2021.104307. Epub 2021 Aug 15. Eur J Med Genet. 2021. PMID: 34407464

7

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV. Kennedy AM, et al. J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. J Clin Invest. 2005. PMID: 16167086 Free PMC article.

8

Altered endochondral bone development in matrix metalloproteinase 13-deficient mice.

Stickens D, Behonick DJ, Ortega N, Heyer B, Hartenstein B, Yu Y, Fosang AJ, Schorpp-Kistner M, Angel P, Werb Z. Stickens D, et al. Development. 2004 Dec;131(23):5883-95. doi: 10.1242/dev.01461. Development. 2004. PMID: 15539485 Free PMC article.

9

Association of MMP9-1562C/T and MMP13-77A/G Polymorphisms with Non-Small Cell Lung Cancer in Southern Chinese Population.

Li W, Jia MX, Wang JH, Lu JL, Deng J, Tang JX, Liu C. Li W, et al. Biomolecules. 2019 Mar 18;9(3):107. doi: 10.3390/biom9030107. Biomolecules. 2019. PMID: 30889876 Free PMC article.

10

Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.

Tadros S, Scott RH, Calder AD, Hurst JA. Tadros S, et al. Clin Dysmorphol. 2017 Jan;26(1):13-17. doi: 10.1097/MCD.0000000000000151. Clin Dysmorphol. 2017. PMID: 27576021

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