Similar articles for PMID: 16411219

Year	Number of Results
1932	1
1994	2
1995	5
1996	4
1998	3
1999	5
2000	5
2001	4
2003	4
2004	1
2005	1
2006	8
2007	10
2008	9
2009	5
2010	7
2011	6
2012	7
2013	4
2014	2
2015	6
2016	7
2017	7
2018	10
2019	3
2020	6
2021	15
2022	8
2023	5
2024	0

1

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

Rump P, Letteboer TG, Gille JJ, Torringa MJ, Baerts W, van Gestel JP, Verheij JB, van Essen AJ. Rump P, et al. Am J Med Genet A. 2006 Feb 1;140(3):284-90. doi: 10.1002/ajmg.a.31084. Am J Med Genet A. 2006. PMID: 16411219

2

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Nagata T, Matsushita M, Mishima K, Kamiya Y, Kato K, Toyama M, Ogi T, Ishiguro N, Kitoh H. Nagata T, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1148. doi: 10.1002/mgg3.1148. Epub 2020 Jan 23. Mol Genet Genomic Med. 2020. PMID: 31975530 Free PMC article.

3

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Manickam K, et al. Am J Med Genet A. 2014 Jan;164A(1):243-50. doi: 10.1002/ajmg.a.36236. Epub 2013 Oct 29. Am J Med Genet A. 2014. PMID: 24352917

4

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.

Ajmal M, Mir A, Shoaib M, Malik SA, Nasir M. Ajmal M, et al. Diagn Pathol. 2017 Jul 5;12(1):47. doi: 10.1186/s13000-017-0642-3. Diagn Pathol. 2017. PMID: 28679403 Free PMC article.

5

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2015 Nov;167A(11):2851-4. doi: 10.1002/ajmg.a.37231. Epub 2015 Jun 30. Am J Med Genet A. 2015. PMID: 26126848 No abstract available.

6

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.

Etlik O, Koksal V, Tugba Arican-Baris S, Baris I. Etlik O, et al. Mol Cell Probes. 2008 Apr;22(2):71-5. doi: 10.1016/j.mcp.2007.06.002. Epub 2007 Jun 27. Mol Cell Probes. 2008. PMID: 17683901

7

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.

Pehlivan S, Ozkinay F, Okutman O, Coğulu O, Ozcan A, Cankaya T, Ulgenalp A. Pehlivan S, et al. Turk J Pediatr. 2003 Apr-Jun;45(2):99-101. Turk J Pediatr. 2003. PMID: 12921294

8

Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

He L, Serrano C, Niphadkar N, Shobnam N, Hristova K. He L, et al. PLoS One. 2012;7(4):e34808. doi: 10.1371/journal.pone.0034808. Epub 2012 Apr 18. PLoS One. 2012. PMID: 22529939 Free PMC article.

9

Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association.

de Azevedo Moreira LM, Matos MA, Schiper PP, Carvalho AF, Gomes IC, Rolemberg JC, Ferreira de Lima RL, Toralles MB. de Azevedo Moreira LM, et al. Birth Defects Res A Clin Mol Teratol. 2010 Apr;88(4):228-31. doi: 10.1002/bdra.20653. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20222028 Review.

10

Achondroplasia with synostosis of multiple sutures.

Georgoulis G, Alexiou G, Prodromou N. Georgoulis G, et al. Am J Med Genet A. 2011 Aug;155A(8):1969-71. doi: 10.1002/ajmg.a.33744. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739570

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