Chudley AE - Search Results

1

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Niimura H, et al. Among authors: chudley ae. N Engl J Med. 1998 Apr 30;338(18):1248-57. doi: 10.1056/NEJM199804303381802. N Engl J Med. 1998. PMID: 9562578 Free article.

2

A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.

Haberer K, Buffo-Sequeira I, Chudley AE, Spriggs E, Sergi C. Haberer K, et al. Among authors: chudley ae. Can J Cardiol. 2014 Oct;30(10):1249.e1-3. doi: 10.1016/j.cjca.2014.05.021. Epub 2014 Jun 12. Can J Cardiol. 2014. PMID: 25262865

3

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Slavotinek A, Li C, Sherr EH, Chudley AE. Slavotinek A, et al. Among authors: chudley ae. Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399. Am J Med Genet A. 2006. PMID: 16894541

4

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.

Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL. Lugenbeel KA, et al. Among authors: chudley ae. Nat Genet. 1995 Aug;10(4):483-5. doi: 10.1038/ng0895-483. Nat Genet. 1995. PMID: 7670500

5

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.

Mhanni AA, Hartley JN, Sanger WG, Chudley AE, Spriggs EL. Mhanni AA, et al. Among authors: chudley ae. Seizure. 2011 Nov;20(9):711-2. doi: 10.1016/j.seizure.2011.06.014. Epub 2011 Jul 19. Seizure. 2011. PMID: 21775168 Free article.

6

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Dawson AJ, Hovanes K, Liu J, Marles S, Greenberg C, Mhanni A, Chudley A, Frosk P, Sahoo T, Schanze D, Zenker M. Dawson AJ, et al. Clin Dysmorphol. 2021 Apr 1;30(2):83-88. doi: 10.1097/MCD.0000000000000351. Clin Dysmorphol. 2021. PMID: 33038106

7

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Li C, et al. Among authors: chudley ae. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. doi: 10.1002/ajmg.a.31446. Am J Med Genet A. 2007. PMID: 17352387

8

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: chudley ae. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.

9

Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?

Li CC, Chodirker BN, Dawson AJ, Chudley AE. Li CC, et al. Among authors: chudley ae. Clin Dysmorphol. 2004 Apr;13(2):95-98. Clin Dysmorphol. 2004. PMID: 15057125

10

Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2.

Li C, Chudley AE, Soni R, Divekar A. Li C, et al. Among authors: chudley ae. Pediatr Cardiol. 2003 Nov-Dec;24(6):585-7. doi: 10.1007/s00246-003-0495-2. Epub 2003 Jul 29. Pediatr Cardiol. 2003. PMID: 12881773

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