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142 results
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Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
Wiltshire KM, Hegele RA, Innes AM, Brownell AK. Wiltshire KM, et al. Among authors: innes am. Neuromuscul Disord. 2013 Mar;23(3):265-8. doi: 10.1016/j.nmd.2012.11.011. Epub 2013 Jan 11. Neuromuscul Disord. 2013. PMID: 23313286
An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier.
Gillan TL, Davies C, Innes AM, Howard J, Graham L, Chernos J, Bridge PJ, Parboosingh JS. Gillan TL, et al. Among authors: innes am. Am J Med Genet A. 2008 Apr 15;146A(8):1067-71. doi: 10.1002/ajmg.a.32231. Am J Med Genet A. 2008. PMID: 18348271 No abstract available.
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. Innes AM, et al. Clin Genet. 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x. Clin Genet. 2010. PMID: 20618352
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM. Caluseriu O, et al. Among authors: innes am. Am J Med Genet A. 2013 Nov;161A(11):2855-9. doi: 10.1002/ajmg.a.36172. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24108658
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
Smith C, Lamont RE, Wade A, Bernier FP, Parboosingh JS, Innes AM. Smith C, et al. Among authors: innes am. Am J Med Genet A. 2016 Mar;170(3):760-5. doi: 10.1002/ajmg.a.37514. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26691894
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG. Lamont RE, et al. Among authors: innes am. Am J Med Genet A. 2017 Mar;173(3):596-600. doi: 10.1002/ajmg.a.37983. Epub 2016 Sep 27. Am J Med Genet A. 2017. PMID: 27671926
When One Diagnosis Is Not Enough.
Boycott KM, Innes AM. Boycott KM, et al. Among authors: innes am. N Engl J Med. 2017 Jan 5;376(1):83-85. doi: 10.1056/NEJMe1614384. Epub 2016 Dec 7. N Engl J Med. 2017. PMID: 27959696 No abstract available.
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
Dyment DA, Gibson WT, Huang L, Bassyouni H, Hegele RA, Innes AM. Dyment DA, et al. Among authors: innes am. Eur J Med Genet. 2014 Sep;57(9):524-6. doi: 10.1016/j.ejmg.2014.06.006. Epub 2014 Jun 28. Eur J Med Genet. 2014. PMID: 24980513
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: innes am. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B, Dyck T, Boycott KM, Innes AM, Ober C, Parboosingh JS, Botkin A, Greenberg CR, Spriggs EL. Triggs-Raine B, et al. Among authors: innes am. Mol Genet Genomic Med. 2016 Jan 19;4(3):312-21. doi: 10.1002/mgg3.206. eCollection 2016 May. Mol Genet Genomic Med. 2016. PMID: 27247959 Free PMC article.
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