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Results: 1 to 20 of 290

1.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, de Camaret BM, Lenaers G, Hamel CP.

Am J Med Genet A. 2015 Jun 10. doi: 10.1002/ajmg.a.37188. [Epub ahead of print]

PMID:
26061759
2.

[Genetic ocular diseases].

Hamel CP.

Rev Prat. 2015 Apr;65(4):467-70. French.

PMID:
26058181
3.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.

Am J Ophthalmol. 2015 May 15. pii: S0002-9394(15)00274-3. doi: 10.1016/j.ajo.2015.05.007. [Epub ahead of print]

PMID:
25982971
4.

Childhood Malnutrition is Associated with Maternal Care During Pregnancy and Childbirth: A Cross-Sectional Study in Bauchi and Cross River States, Nigeria.

Hamel C, Enne J, Omer K, Ayara N, Yarima Y, Cockcroft A, Andersson N.

J Public Health Res. 2015 Apr 17;4(1):408. doi: 10.4081/jphr.2015.408. eCollection 2015 Feb 20.

5.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A.

Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.

6.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP.

Br J Ophthalmol. 2015 Apr 16. pii: bjophthalmol-2014-306224. doi: 10.1136/bjophthalmol-2014-306224. [Epub ahead of print]

PMID:
25883087
7.

'From scared to prepared': targeted structured induction training during the transition from medical school to foundation doctor.

Blencowe NS, Van Hamel C, Bethune R, Aspinall R.

Perspect Med Educ. 2015 Apr;4(2):90-2. doi: 10.1007/s40037-015-0168-x.

8.

Winter effect on soil microorganisms under different tillage and phosphorus management practices in eastern Canada.

Shi Y, Lalande R, Hamel C, Ziadi N.

Can J Microbiol. 2015 May;61(5):315-26. doi: 10.1139/cjm-2014-0821. Epub 2015 Feb 11.

PMID:
25776569
9.

Plant assemblage composition and soil P concentration differentially affect communities of AM and total fungi in a semi-arid grassland.

Klabi R, Bell TH, Hamel C, Iwaasa A, Schellenberg M, Raies A, St-Arnaud M.

FEMS Microbiol Ecol. 2015 Jan;91(1):1-13. doi: 10.1093/femsec/fiu015. Epub 2014 Dec 5.

PMID:
25764537
10.

How can we prevent myopia progression?

Chassine T, Villain M, Hamel CP, Daien V.

Eur J Ophthalmol. 2015 May 25;25(4):280-5. doi: 10.5301/ejo.5000571. Epub 2015 Feb 3.

PMID:
25655598
11.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP.

J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.

PMID:
25641387
12.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK.

Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15.

13.

Genotype-specific variation in the structure of root fungal communities is related to chickpea plant productivity.

Bazghaleh N, Hamel C, Gan Y, Tar'an B, Knight JD.

Appl Environ Microbiol. 2015 Apr;81(7):2368-77. doi: 10.1128/AEM.03692-14. Epub 2015 Jan 23.

14.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP.

Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5.

PMID:
25447119
15.

Do sugar-sweetened beverages cause adverse health outcomes in adults? A systematic review protocol.

Hamel C, Stevens A, Singh K, Ansari MT, Myers E, Ziegler P, Hutton B, Sharma A, Bjerre LM, Fenton S, Lau DC, O'Hara K, Reid R, Salewski E, Shrier I, Willows N, Tremblay M, Moher D.

Syst Rev. 2014 Sep 23;3:108. doi: 10.1186/2046-4053-3-108. Review.

16.

Soil fungal resources in annual cropping systems and their potential for management.

Ellouze W, Esmaeili Taheri A, Bainard LD, Yang C, Bazghaleh N, Navarro-Borrell A, Hanson K, Hamel C.

Biomed Res Int. 2014;2014:531824. doi: 10.1155/2014/531824. Epub 2014 Aug 28. Review.

17.

Structures of a pan-specific antagonist antibody complexed to different isoforms of TGFβ reveal structural plasticity of antibody-antigen interactions.

Moulin A, Mathieu M, Lawrence C, Bigelow R, Levine M, Hamel C, Marquette JP, Le Parc J, Loux C, Ferrari P, Capdevila C, Dumas J, Dumas B, Rak A, Bird J, Qiu H, Pan CQ, Edmunds T, Wei RR.

Protein Sci. 2014 Dec;23(12):1698-707. doi: 10.1002/pro.2548. Epub 2014 Sep 26.

PMID:
25209176
18.

Do sugar-sweetened beverages cause adverse health outcomes in children? A systematic review protocol.

Stevens A, Hamel C, Singh K, Ansari MT, Myers E, Ziegler P, Hutton B, Sharma A, Bjerre LM, Fenton S, Gow R, Hadjiyannakis S, O'Hara K, Pound C, Salewski E, Shrier I, Willows N, Moher D, Tremblay M.

Syst Rev. 2014 Sep 4;3:96. doi: 10.1186/2046-4053-3-96. Review.

19.

Prepared for practice? a national survey of UK foundation doctors and their supervisors.

Van Hamel C, Jenner LE.

Med Teach. 2015 Feb;37(2):181-8. doi: 10.3109/0142159X.2014.947929. Epub 2014 Aug 26.

PMID:
25155154
20.

Chemoenzymatic synthesis of trehalose analogues: rapid access to chemical probes for investigating mycobacteria.

Urbanek BL, Wing DC, Haislop KS, Hamel CJ, Kalscheuer R, Woodruff PJ, Swarts BM.

Chembiochem. 2014 Sep 22;15(14):2066-70. doi: 10.1002/cbic.201402288. Epub 2014 Aug 19.

PMID:
25139066
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