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Items: 1 to 20 of 366

1.

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.

Bris C, Goudenege D, Desquiret-Dumas V, Charif M, Colin E, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Procaccio V.

Front Genet. 2018 Dec 11;9:632. doi: 10.3389/fgene.2018.00632. eCollection 2018. Review.

2.

Alagille syndrome: a case report.

Benabed Y, Chaillou E, Denis MC, Simard G, Reynier P, Homedan C.

Ann Biol Clin (Paris). 2018 Dec 1;76(6):675-680. doi: 10.1684/abc.2018.1399.

PMID:
30543192
3.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik JF, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B.

Br J Ophthalmol. 2018 Nov 24. pii: bjophthalmol-2018-312729. doi: 10.1136/bjophthalmol-2018-312729. [Epub ahead of print]

PMID:
30472657
4.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A.

Eur J Med Genet. 2018 Nov 22. pii: S1769-7212(18)30464-6. doi: 10.1016/j.ejmg.2018.11.022. [Epub ahead of print]

PMID:
30472488
5.

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Perrin A, Latour P, Procaccio V, Jardel C, Cérino M, Bonne G, Salort-Campana E, Urtizberea JA, Pouget J, Krahn M, Cossée M.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:20-22. doi: 10.1051/medsci/201834s206. Epub 2018 Nov 12. French. No abstract available.

PMID:
30418140
6.

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

Felhi R, Sfaihi L, Charif M, Desquiret-Dumas V, Bris C, Goudenège D, Ammar-Keskes L, Hachicha M, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Lenaers G, Fakhfakh F.

Clin Chim Acta. 2019 Jan;488:104-110. doi: 10.1016/j.cca.2018.11.003. Epub 2018 Nov 3.

PMID:
30395865
7.

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.

Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V.

Genet Med. 2018 Nov 5. doi: 10.1038/s41436-018-0350-8. [Epub ahead of print]

PMID:
30393377
8.

A NEW CASE OF PCSK1 PATHOGENIC VARIANT WITH CONGENITAL PROPROTEIN CONVERTASE 1/3 DEFICIENCY AND LITERATURE REVIEW.

Pépin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R.

J Clin Endocrinol Metab. 2018 Oct 31. doi: 10.1210/jc.2018-01854. [Epub ahead of print]

PMID:
30383237
9.

The mitochondrial DNA content of cumulus cells may help predict embryo implantation.

Taugourdeau A, Desquiret-Dumas V, Hamel JF, Chupin S, Boucret L, Ferré-L'Hotellier V, Bouet PE, Descamps P, Procaccio V, Reynier P, May-Panloup P.

J Assist Reprod Genet. 2018 Oct 25. doi: 10.1007/s10815-018-1348-5. [Epub ahead of print]

PMID:
30362054
10.

A serum metabolomics signature of hypothermia fatalities involving arginase activity, tryptophan content, and phosphatidylcholine saturation.

Rousseau G, Chao de la Barca JM, Rougé-Maillart C, Teresiński G, Jousset N, Dieu X, Chabrun F, Prunier-Mirabeau D, Simard G, Reynier P, Palmiere C.

Int J Legal Med. 2018 Sep 18. doi: 10.1007/s00414-018-1937-y. [Epub ahead of print]

PMID:
30229331
11.

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

Leruez S, Marill A, Bresson T, de Saint Martin G, Buisset A, Muller J, Tessier L, Gadras C, Verny C, Gohier P, Amati-Bonneau P, Lenaers G, Bonneau D, Simard G, Milea D, Procaccio V, Reynier P, Chao de la Barca JM.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4355-4361. doi: 10.1167/iovs.18-24938.

PMID:
30193307
12.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2018 Aug 24. doi: 10.1038/s41431-018-0235-y. [Epub ahead of print] No abstract available.

PMID:
30143805
13.

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.

Bocca C, Kane MS, Veyrat-Durebex C, Chupin S, Alban J, Kouassi Nzoughet J, Le Mao M, Chao de la Barca JM, Amati-Bonneau P, Bonneau D, Procaccio V, Lenaers G, Simard G, Chevrollier A, Reynier P.

Sci Rep. 2018 Aug 1;8(1):11528. doi: 10.1038/s41598-018-29972-9.

14.

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers.

Najjar RP, Reynier P, Caignard A, Procaccio V, Amati-Bonneau P, Mack H, Milea D.

J Neuroophthalmol. 2018 Jul 3. doi: 10.1097/WNO.0000000000000690. [Epub ahead of print]

PMID:
29979334
15.

Study of mitochondrial function in placental insufficiency.

Lefebvre T, Roche O, Seegers V, Cherif M, Khiati S, Gueguen N, Desquiret-Dumas V, Geffroy G, Blanchet O, Reynier P, Legendre G, Lenaers G, Procaccio V, Gascoin G.

Placenta. 2018 Jul;67:1-7. doi: 10.1016/j.placenta.2018.05.007. Epub 2018 May 17.

PMID:
29941168
16.

Glycosylation as new pharmacological strategies for diseases associated with excessive angiogenesis.

Bousseau S, Vergori L, Soleti R, Lenaers G, Martinez MC, Andriantsitohaina R.

Pharmacol Ther. 2018 Nov;191:92-122. doi: 10.1016/j.pharmthera.2018.06.003. Epub 2018 Jun 29. Review.

PMID:
29909237
17.

Iron deficiency without anemia is responsible for decreased left ventricular function and reduced mitochondrial complex I activity in a mouse model.

Rineau E, Gaillard T, Gueguen N, Procaccio V, Henrion D, Prunier F, Lasocki S.

Int J Cardiol. 2018 Sep 1;266:206-212. doi: 10.1016/j.ijcard.2018.02.021.

PMID:
29887449
18.

Primary antiphospholipid syndrome and antiphospholipid syndrome associated to systemic lupus: Are they different entities?

Belizna C, Stojanovich L, Cohen-Tervaert JW, Fassot C, Henrion D, Loufrani L, Nagy G, Muchardt C, Hasan M, Ungeheuer MN, Arnaud L, Alijotas-Reig J, Esteve-Valverde E, Nicoletti F, Saulnier P, Godon A, Reynier P, Chrétien JM, Damian L, Omarjee L, Mahé G, Pistorius MA, Meroni PL, Devreese K.

Autoimmun Rev. 2018 Aug;17(8):739-745. doi: 10.1016/j.autrev.2018.01.027. Epub 2018 Jun 6. Review.

PMID:
29885541
19.

Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease.

Signolet I, Abraham P, Chupin S, Ammi M, Gueguen N, Letournel F, Picquet J, Baufreton C, Daligault M, Procaccio V, Reynier P, Henni S.

J Appl Physiol (1985). 2018 Sep 1;125(3):938-946. doi: 10.1152/japplphysiol.00059.2018. Epub 2018 May 24.

20.

Updated review of postmortem biochemical exploration of hypothermia with a presentation of standard strategy of sampling and analyses.

Rousseau G, Reynier P, Jousset N, Rougé-Maillart C, Palmiere C.

Clin Chem Lab Med. 2018 Oct 25;56(11):1819-1827. doi: 10.1515/cclm-2018-0153.

PMID:
29715177

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