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Items: 1 to 50 of 203

1.

Usefulness of cocaine drops in investigating infant anisocoria.

Martin GC, Aymard PA, Denier C, Seghir C, Abitbol M, Boddaert N, Bremond-Gignac D, Robert MP.

Eur J Paediatr Neurol. 2017 Nov;21(6):852-857. doi: 10.1016/j.ejpn.2017.07.020. Epub 2017 Aug 4.

PMID:
28807373
2.

Cataracts in a population of Bengal cats in France.

Bourguet A, Chaudieu G, Briatta A, Guyonnet A, Abitbol M, Chahory S.

Vet Ophthalmol. 2018 Jan;21(1):10-18. doi: 10.1111/vop.12470. Epub 2017 Apr 25.

PMID:
28444876
3.

Allelic heterogeneity of albinism in the domestic cat.

Abitbol M, Bossé P, Grimard B, Martignat L, Tiret L.

Anim Genet. 2017 Feb;48(1):127-128. doi: 10.1111/age.12503. Epub 2016 Sep 15. No abstract available.

PMID:
27634063
4.

Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.

Dinet V, Ciccotosto GD, Delaunay K, Borras C, Ranchon-Cole I, Kostic C, Savoldelli M, El Sanharawi M, Jonet L, Pirou C, An N, Abitbol M, Arsenijevic Y, Behar-Cohen F, Cappai R, Mascarelli F.

Mol Brain. 2016 Jun 8;9(1):64. doi: 10.1186/s13041-016-0245-z.

5.

Changes in aquaporin-4 and Kir4.1 expression in rats with inherited retinal dystrophy.

Lassiale S, Valamanesh F, Klein C, Hicks D, Abitbol M, Versaux-Botteri C.

Exp Eye Res. 2016 Jul;148:33-44. doi: 10.1016/j.exer.2016.05.010. Epub 2016 May 15.

PMID:
27191611
6.

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.

Tran HV, Moret E, Vaclavik V, Marcelli F, Abitbol MM, Munier FL, Schorderet DF.

Klin Monbl Augenheilkd. 2016 Apr;233(4):475-7. doi: 10.1055/s-0042-102585. Epub 2016 Apr 26. No abstract available.

PMID:
27116512
7.

Clinical characterisation of polydactyly in Maine Coon cats.

Hamelin A, Begon D, Conchou F, Fusellier M, Abitbol M.

J Feline Med Surg. 2017 Apr;19(4):382-393. doi: 10.1177/1098612X16628920. Epub 2016 Feb 1.

PMID:
26862149
8.

Haplosufficiency of PAX3 for melanoma development in Tyr: NRASQ61K; Cdkn2a-/- mice allows identification and sorting of melanoma cells using a Pax3GFP reporter allele.

Campagne C, Reyes-Gomez E, Loiodice S, Gadin S, Ezagal J, Bernex F, Abitbol M, Louise A, Beermann F, Panthier JJ, Aubin-Houzelstein G, Egidy G.

Melanoma Res. 2016 Feb;26(1):12-20. doi: 10.1097/CMR.0000000000000212.

9.

A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.

Abitbol M, Hitte C, Bossé P, Blanchard-Gutton N, Thomas A, Martignat L, Blot S, Tiret L.

PLoS One. 2015 Sep 1;10(9):e0137019. doi: 10.1371/journal.pone.0137019. eCollection 2015.

10.

Homozygous Nonsense Mutations in RBP3 Gene Cause Early-Onset Retinal Dystrophies Associated With High Myopia.

Abitbol MM.

Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2366. doi: 10.1167/iovs.15-16876. No abstract available.

PMID:
26066594
11.

A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys.

Abitbol M, Legrand R, Tiret L.

Genet Sel Evol. 2015 Apr 8;47:28. doi: 10.1186/s12711-015-0112-x.

12.

A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats.

Abitbol M, Bossé P, Thomas A, Tiret L.

PLoS One. 2015 Mar 17;10(3):e0120668. doi: 10.1371/journal.pone.0120668. eCollection 2015.

13.

Networks of genes governing the development of optic and otic vesicles: implications for eye and ear development.

Abitbol MM.

Invest Ophthalmol Vis Sci. 2015 Feb 5;56(2):892. doi: 10.1167/iovs.15-16420. Review. No abstract available.

PMID:
25656090
14.

Novel insights provided by spectral-domain coherent tomography in pediatric ophthalmology.

Abitbol MM.

Graefes Arch Clin Exp Ophthalmol. 2014 Dec;252(12):1885-6. doi: 10.1007/s00417-014-2791-3. Epub 2014 Sep 14. No abstract available.

PMID:
25216740
15.

A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.

Abitbol M, Legrand R, Tiret L.

Anim Genet. 2014 Dec;45(6):878-80. doi: 10.1111/age.12207. Epub 2014 Aug 25.

PMID:
25155046
16.

Prevalence of deafness and association with coat variations in client-owned ferrets.

Piazza S, Abitbol M, Gnirs K, Huynh M, Cauzinille L.

J Am Vet Med Assoc. 2014 May 1;244(9):1047-52. doi: 10.2460/javma.244.9.1047.

PMID:
24739114
17.

Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.

Legrand R, Tiret L, Abitbol M.

Genet Sel Evol. 2014 Sep 25;46:65. doi: 10.1186/s12711-014-0065-5.

18.

Pituitary function and glucose tolerance in a family with a PAX6 mutation.

Hergott-Faure L, Borot S, Kleinclauss C, Abitbol M, Penfornis A.

Ann Endocrinol (Paris). 2012 Dec;73(6):510-4. doi: 10.1016/j.ando.2012.10.001. Epub 2012 Nov 10.

PMID:
23146210
19.

Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: reference ranges, heart disease prevalence and genetic aspects.

Chetboul V, Petit A, Gouni V, Trehiou-Sechi E, Misbach C, Balouka D, Carlos Sampedrano C, Pouchelon JL, Tissier R, Abitbol M.

J Vet Cardiol. 2012 Dec;14(4):497-509. doi: 10.1016/j.jvc.2012.08.001. Epub 2012 Nov 4.

PMID:
23131204
20.

Near-complete adaptation of the PRiMA knockout to the lack of central acetylcholinesterase.

Farar V, Mohr F, Legrand M, Lamotte d'Incamps B, Cendelin J, Leroy J, Abitbol M, Bernard V, Baud F, Fournet V, Houze P, Klein J, Plaud B, Tuma J, Zimmermann M, Ascher P, Hrabovska A, Myslivecek J, Krejci E.

J Neurochem. 2012 Sep;122(5):1065-80. doi: 10.1111/j.1471-4159.2012.07856.x. Epub 2012 Aug 3.

21.

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model.

Lyoumi S, Abitbol M, Rainteau D, Karim Z, Bernex F, Oustric V, Millot S, Lettéron P, Heming N, Guillmot L, Montagutelli X, Berdeaux G, Gouya L, Poupon R, Deybach JC, Beaumont C, Puy H.

Gastroenterology. 2011 Oct;141(4):1509-19, 1519.e1-3. doi: 10.1053/j.gastro.2011.06.078. Epub 2011 Jul 14.

PMID:
21762662
22.

The retinal pigment epithelium undergoes massive apoptosis during early differentiation and pigmentation of the optic cup.

Pequignot MO, Provost AC, Sallé S, Menasche M, Saule S, Jaïs JP, Abitbol M.

Mol Vis. 2011 Apr 20;17:989-96.

23.

A novel antiangiogenic and vascular normalization therapy targeted against human CD160 receptor.

Chabot S, Jabrane-Ferrat N, Bigot K, Tabiasco J, Provost A, Golzio M, Noman MZ, Giustiniani J, Bellard E, Brayer S, Aguerre-Girr M, Meggetto F, Giuriato S, Malecaze F, Galiacy S, Jaïs JP, Chose O, Kadouche J, Chouaib S, Teissié J, Abitbol M, Bensussan A, Le Bouteiller P.

J Exp Med. 2011 May 9;208(5):973-86. doi: 10.1084/jem.20100810. Epub 2011 Apr 11.

24.

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.

Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S, Abitbol M.

Mol Vis. 2011 Jan 29;17:309-22.

25.

Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed.

Mary J, Chetboul V, Sampedrano CC, Abitbol M, Gouni V, Trehiou-Sechi E, Tissier R, Queney G, Pouchelon JL, Thomas A.

J Vet Cardiol. 2010 Dec;12(3):155-61. doi: 10.1016/j.jvc.2010.06.004. Epub 2010 Nov 3.

PMID:
21051304
26.

Truncation of PITX2 differentially affects its activity on physiological targets.

Quentien MH, Vieira V, Menasche M, Dufier JL, Herman JP, Enjalbert A, Abitbol M, Brue T.

J Mol Endocrinol. 2010 Dec 21;46(1):9-19. doi: 10.1677/JME-10-0063. Print 2011 Feb.

PMID:
20978111
27.

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2.

28.

Kinoids: a family of immunogens for active anticytokine immunotherapy applied to autoimmune diseases and cancer.

Bizzini B, Drouet B, Zagury D, Abitbol M, Burny A, Boissier MC.

Immunotherapy. 2010 May;2(3):347-65. doi: 10.2217/imt.10.16. Review.

PMID:
20635900
29.

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28.

PMID:
19864492
30.

Expression of 8-oxoguanine DNA glycosylase (Ogg1) in mouse retina.

Bigot K, Leemput J, Vacher M, Campalans A, Radicella JP, Lacassagne E, Provost A, Masson C, Menasche M, Abitbol M.

Mol Vis. 2009 Jun 5;15:1139-52.

31.

Morphologic and electroretinographic phenotype of SR-BI knockout mice after a long-term atherogenic diet.

Provost AC, Vede L, Bigot K, Keller N, Tailleux A, Jaïs JP, Savoldelli M, Ameqrane I, Lacassagne E, Legeais JM, Staels B, Menasche M, Mallat Z, Behar-Cohen F, Abitbol M.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3931-42. doi: 10.1167/iovs.08-2527. Epub 2009 May 6.

PMID:
19420333
32.

Sirt1 involvement in rd10 mouse retinal degeneration.

Jaliffa C, Ameqrane I, Dansault A, Leemput J, Vieira V, Lacassagne E, Provost A, Bigot K, Masson C, Menasche M, Abitbol M.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3562-72. doi: 10.1167/iovs.08-2817. Epub 2009 Apr 30.

PMID:
19407027
33.

CX3CR1+ CD115+ CD135+ common macrophage/DC precursors and the role of CX3CR1 in their response to inflammation.

Auffray C, Fogg DK, Narni-Mancinelli E, Senechal B, Trouillet C, Saederup N, Leemput J, Bigot K, Campisi L, Abitbol M, Molina T, Charo I, Hume DA, Cumano A, Lauvau G, Geissmann F.

J Exp Med. 2009 Mar 16;206(3):595-606. doi: 10.1084/jem.20081385. Epub 2009 Mar 9.

34.

ATM localization and gene expression in the adult mouse eye.

Leemput J, Masson C, Bigot K, Errachid A, Dansault A, Provost A, Gadin S, Aoufouchi S, Menasche M, Abitbol M.

Mol Vis. 2009;15:393-416. Epub 2009 Feb 20.

35.

Prospective echocardiographic and tissue Doppler imaging screening of a population of Maine Coon cats tested for the A31P mutation in the myosin-binding protein C gene: a specific analysis of the heterozygous status.

Carlos Sampedrano C, Chetboul V, Mary J, Tissier R, Abitbol M, Serres F, Gouni V, Thomas A, Pouchelon JL.

J Vet Intern Med. 2009 Jan-Feb;23(1):91-9. doi: 10.1111/j.1939-1676.2008.0218.x.

36.

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6.

PMID:
19129173
37.

Analysis of partner of inscuteable (mPins) expression in the developing mouse eye.

Raji B, Dansault A, Vieira V, de la Houssaye G, Lacassagne E, Kobetz A, Arbogast L, Dufier JL, Blumer JB, Menasche M, Abitbol M.

Mol Vis. 2008;14:2575-96. Epub 2008 Dec 31.

38.

Differential regulation of Dlg1, Scrib, and Lgl1 expression in a transgenic mouse model of ocular cancer.

Vieira V, de la Houssaye G, Lacassagne E, Dufier JL, Jaïs JP, Beermann F, Menasche M, Abitbol M.

Mol Vis. 2008;14:2390-403. Epub 2008 Dec 19.

39.

ETS-1 and ETS-2 are upregulated in a transgenic mouse model of pigmented ocular neoplasm.

De la Houssaye G, Vieira V, Masson C, Beermann F, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2008;14:1912-28. Epub 2008 Oct 29.

40.

Reduction of brain metastases in plasminogen activator inhibitor-1-deficient mice with transgenic ocular tumors.

Maillard CM, Bouquet C, Petitjean MM, Mestdagt M, Frau E, Jost M, Masset AM, Opolon PH, Beermann F, Abitbol MM, Foidart JM, Perricaudet MJ, Noël AC.

Carcinogenesis. 2008 Nov;29(11):2236-42. doi: 10.1093/carcin/bgn204. Epub 2008 Aug 27.

PMID:
18753414
41.

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL.

Am J Hum Genet. 2008 May;82(5):1178-84. doi: 10.1016/j.ajhg.2008.03.007.

42.

Novel mouse model of monocular amaurosis fugax.

Lelong DC, Bieche I, Perez E, Bigot K, Leemput J, Laurendeau I, Vidaud M, Jais JP, Menasche M, Abitbol M.

Stroke. 2007 Dec;38(12):3237-44. Epub 2007 Nov 1.

43.

Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy.

Vieira V, de la Houssaye G, Dansault A, Perez E, Roche O, Dufier JL, Marsac C, Menasche M, Abitbol M.

Hum Genet. 2007 Jun;121(5):650. No abstract available.

PMID:
17879448
44.

The RNA-binding protein Musashi-1 is produced in the developing and adult mouse eye.

Raji B, Dansault A, Leemput J, de la Houssaye G, Vieira V, Kobetz A, Arbogast L, Masson C, Menasche M, Abitbol M.

Mol Vis. 2007 Aug 10;13:1412-27.

PMID:
17768378
45.

Bilateral Polydactyly in a foal.

Carstanjen B, Abitbol M, Desbois C.

J Vet Sci. 2007 Jun;8(2):201-3.

46.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

47.

Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.

Abitbol M, Puy H, Sabaté JM, Guénet JL, Deybach JC, Montagutelli X.

Physiol Res. 2006;55 Suppl 2:S93-101.

48.

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.

Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.

J Med Genet. 2007 Mar;44(3):e70. Epub 2007 Feb 7.

49.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

50.

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C.

Hum Mutat. 2007 Feb;28(2):137-42.

PMID:
17152059

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