herenciageneticayenfermedad: Undiagnosed diseases AND (genetic OR genomic) AND review - PubMed

Undiagnosed diseases AND (genetic OR genomic) AND review - PubMed - NCBI

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PubMed links to genetics reviews articles for "Undiagnosed diseases"

Best matches for Undiagnosed diseases AND (genetic OR genomic) AND review:

Hypertrophic cardiomyopathy.Maron BJ et al. Lancet. (2013)

The National Institutes of Health undiagnosed diseases program.Tifft CJ et al. Curr Opin Pediatr. (2014)

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.Aksentijevich I et al. Semin Immunopathol. (2015)

Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology.

Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A.

Endocr Rev. 2018 Feb 9. doi: 10.1210/er.2017-00212. [Epub ahead of print]

PMID:: 29438472

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GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R.

Neuromuscul Disord. 2018 Jan 10. pii: S0960-8966(17)31268-3. doi: 10.1016/j.nmd.2018.01.002. [Epub ahead of print]

PMID:: 29422440

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Screening for rare genetic variants associated with atherosclerosis: opportunity for personalized medicine.

Peterlin A, Petrovic D, Peterlin B.

Curr Vasc Pharmacol. 2018 Feb 5. doi: 10.2174/1570161116666180206111725. [Epub ahead of print]

PMID:: 29412113

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Epidemiology of diabetes and diabetic complications in China.

Ma RCW.

Diabetologia. 2018 Feb 1. doi: 10.1007/s00125-018-4557-7. [Epub ahead of print] Review.

PMID:: 29392352

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Future perspectives of genome-scale sequencing.

Steyaert W, Callens S, Coucke P, Dermaut B, Hemelsoet D, Terryn W, Poppe B.

Acta Clin Belg. 2018 Feb;73(1):7-10. doi: 10.1080/17843286.2017.1413809.

PMID:: 29384039

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Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.

Tasca G, Udd B.

Neuromuscul Disord. 2017 Dec 12. pii: S0960-8966(17)31223-3. doi: 10.1016/j.nmd.2017.12.002. [Epub ahead of print] Review.

PMID:: 29361395

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A review of the clinical, radiological and biochemical characteristics and genetic causes of high bone mass disorders.

Chen X, Yu H, Yu X.

Curr Drug Targets. 2018 Jan 22. doi: 10.2174/1389450119666180122161503. [Epub ahead of print]

PMID:: 29359663

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Gestational diabetes from A to Z.

Mirghani Dirar A, Doupis J.

World J Diabetes. 2017 Dec 15;8(12):489-511. doi: 10.4239/wjd.v8.i12.489. Review.

PMID:: 29290922

Free PMC Article

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Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL.

NPJ Genom Med. 2017;2. pii: 4. doi: 10.1038/s41525-017-0006-7. Epub 2017 Mar 3.

PMID:: 29152331

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Genetic strategies to tackle neurological diseases in fruit flies.

Şentürk M, Bellen HJ.

Curr Opin Neurobiol. 2017 Nov 8;50:24-32. doi: 10.1016/j.conb.2017.10.017. [Epub ahead of print] Review.

PMID:: 29128849

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Reversing the tide - diagnosis and prevention of T2DM in populations of African descent.

Utumatwishima JN, Chung ST, Bentley AR, Udahogora M, Sumner AE.

Nat Rev Endocrinol. 2018 Jan;14(1):45-56. doi: 10.1038/nrendo.2017.127. Epub 2017 Oct 23. Review.

PMID:: 29052590

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How we diagnose and treat systemic mastocytosis in adults.

Scherber RM, Borate U.

Br J Haematol. 2018 Jan;180(1):11-23. doi: 10.1111/bjh.14967. Epub 2017 Oct 19. Review.

PMID:: 29048112

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Acute and chronic viral infections.

Deigendesch N, Stenzel W.

Handb Clin Neurol. 2017;145:227-243. doi: 10.1016/B978-0-12-802395-2.00017-1. Review.

PMID:: 28987172

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TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.

Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW.

Case Rep Neurol. 2017 Aug 31;9(2):216-221. doi: 10.1159/000479788. eCollection 2017 May-Aug.

PMID:: 28966590

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Implementing the Single Institutional Review Board Model: Lessons from the UndiagnosedDiseases Network.

Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB; Members of the UndiagnosedDiseases Network.

Clin Transl Sci. 2018 Jan;11(1):28-31. doi: 10.1111/cts.12512. Epub 2017 Oct 23. No abstract available.

PMID:: 28945957

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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J; Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ.

Genetics. 2017 Sep;207(1):9-27. doi: 10.1534/genetics.117.203067. Review.

PMID:: 28874452

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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.

Genome Med. 2017 Aug 14;9(1):73. doi: 10.1186/s13073-017-0463-8.