Similar articles for PMID: 20949528

Year	Number of Results
1974	1
1980	1
1984	1
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1991	1
1992	1
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1998	3
1999	2
2000	7
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2015	6
2016	5
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2019	4
2020	1
2021	1
2022	2
2023	1
2024	0

1

Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.

Bonapace G, Ceravolo F, Piccirillo A, Duro G, Strisciuglio P, Concolino D. Bonapace G, et al. Am J Med Genet A. 2010 Nov;152A(11):2898-900. doi: 10.1002/ajmg.a.33671. Am J Med Genet A. 2010. PMID: 20949528 No abstract available.

2

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Veugelers M, et al. N Engl J Med. 2004 Jul 29;351(5):460-9. doi: 10.1056/NEJMoa040584. N Engl J Med. 2004. PMID: 15282353 Free article.

3

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. Toydemir RM, et al. Am J Med Genet A. 2006 Nov 15;140(22):2387-93. doi: 10.1002/ajmg.a.31495. Am J Med Genet A. 2006. PMID: 17041932

4

Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.

Dai Z, Whitt Z, Mighion LC, Pontoglio A, Bean LJH, Colombo R, Hegde M. Dai Z, et al. Eur J Med Genet. 2017 Jun;60(6):312-316. doi: 10.1016/j.ejmg.2017.03.012. Epub 2017 Apr 2. Eur J Med Genet. 2017. PMID: 28377322

5

Orthopaedic aspects of the trismus pseudocamptodactyly syndrome.

O'Brien PJ, Gropper PT, Tredwell SJ, Hall JG. O'Brien PJ, et al. J Pediatr Orthop. 1984 Aug;4(4):469-71. doi: 10.1097/01241398-198408000-00016. J Pediatr Orthop. 1984. PMID: 6470119

6

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834037 Free PMC article.

7

Mutation of perinatal myosin heavy chain.

Morita H, Nagai R. Morita H, et al. N Engl J Med. 2004 Dec 9;351(24):2556-8; author reply 2556-8. N Engl J Med. 2004. PMID: 15599958 No abstract available.

8

Mutation of perinatal myosin heavy chain.

Brown MA. Brown MA. N Engl J Med. 2004 Dec 9;351(24):2556-8; author reply 2556-8. N Engl J Med. 2004. PMID: 15599957 No abstract available.

9

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.

Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A. Minzer-Conzetti K, et al. Clin Dysmorphol. 2008 Jan;17(1):1-4. doi: 10.1097/MCD.0b013e3282efdad8. Clin Dysmorphol. 2008. PMID: 18049072

10

Mutation linked to variant of Carney complex.

Wildasin K. Wildasin K. Lancet Oncol. 2004 Sep;5(9):521. doi: 10.1016/s1470-2045(04)01555-4. Lancet Oncol. 2004. PMID: 15384212 No abstract available.

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