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Items: 22

1.

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X.

Genet Med. 2018 Nov 26. doi: 10.1038/s41436-018-0356-2. [Epub ahead of print]

PMID:
30474650
2.

Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma.

Job S, Draskovic I, Burnichon N, Buffet A, Cros J, Lépine C, Venisse A, Robidel E, Verkarre V, Meatchi T, Sibony M, Amar L, Bertherat J, de Reyniès A, Londoño-Vallejo A, Favier J, Castro-Vega LJ, Gimenez-Roqueplo AP.

Clin Cancer Res. 2019 Jan 15;25(2):760-770. doi: 10.1158/1078-0432.CCR-18-0139. Epub 2018 Oct 9.

PMID:
30301828
3.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.

Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.

PMID:
29398133
4.

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J.

Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19.

PMID:
28102862
5.

A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.

Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP.

Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19. Review.

PMID:
22517557
6.

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

Abermil N, Guillaud-Bataille M, Burnichon N, Venisse A, Manivet P, Guignat L, Drui D, Chupin M, Josseaume C, Affres H, Plouin PF, Bertherat J, Jeunemaître X, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2012 May;97(5):E805-9. doi: 10.1210/jc.2011-3360. Epub 2012 Mar 14.

PMID:
22419703
7.

A pseudo-dominant form of Gitelman's syndrome.

de La Faille R, Vallet M, Venisse A, Nau V, Collet-Gaudillat C, Houillier P, Jeunemaitre X, Vargas-Poussou R.

NDT Plus. 2011 Dec;4(6):386-9. doi: 10.1093/ndtplus/sfr094. Epub 2011 Aug 22.

8.

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.

Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2011 Oct 15;20(20):3974-85. doi: 10.1093/hmg/ddr324. Epub 2011 Jul 22.

PMID:
21784903
9.

SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.

Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP, de Krijger RR.

J Clin Endocrinol Metab. 2011 Sep;96(9):E1472-6. doi: 10.1210/jc.2011-1043. Epub 2011 Jul 13.

PMID:
21752896
10.

Formative evaluation to improve prevention of sudden infant death syndrome (SIDS): a prospective study.

D'Halluin AR, Roussey M, Branger B, Venisse A, Pladys P.

Acta Paediatr. 2011 Oct;100(10):e147-51. doi: 10.1111/j.1651-2227.2011.02331.x. Epub 2011 Jun 1.

PMID:
21517963
11.

Spectrum of mutations in Gitelman syndrome.

Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X.

J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17.

12.

[Can we explain the sudden infant death syndrome? About a series of 80 cases with an autopsy in Rennes University Hospital, France in the period 1994-2007].

Saint-Stéban C, Leray E, Jouan H, Loget P, Venisse A, Roussey M.

Arch Pediatr. 2010 Aug;17(8):1231-6. doi: 10.1016/j.arcped.2010.05.016. Epub 2010 Jul 7. French.

PMID:
20615676
13.

A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?

Richalet JP, Gimenez-Roqueplo AP, Peyrard S, Vénisse A, Marelle L, Burnichon N, Bouzamondo A, Jeunemaitre X, Azizi M, Elghozi JL.

Clin Auton Res. 2009 Dec;19(6):335-42. doi: 10.1007/s10286-009-0028-z.

PMID:
19768395
14.

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP; PGL.NET network.

J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. doi: 10.1210/jc.2008-2504. Epub 2009 May 19.

PMID:
19454582
15.

Penetrance and clinical consequences of a gross SDHB deletion in a large family.

Solis DC, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K.

Clin Genet. 2009 Apr;75(4):354-63. doi: 10.1111/j.1399-0004.2009.01157.x.

16.

[Current concepts on risk and protective factors for sudden infant death syndrome].

Roussey M, Dagorne M, Defawe G, Hervé T, Balençon M, Venisse A.

Arch Pediatr. 2007 Jun;14(6):627-9. Epub 2007 Apr 9. French. No abstract available.

PMID:
17416494
17.

Mycobacterium smegmatis phosphoinositols-glyceroarabinomannans. Structure and localization of alkali-labile and alkali-stable phosphoinositides.

Gilleron M, Himoudi N, Adam O, Constant P, Venisse A, Rivière M, Puzo G.

J Biol Chem. 1997 Jan 3;272(1):117-24.

18.

Mannosylated lipoarabinomannan interacts with phagocytes.

Venisse A, Fournié JJ, Puzo G.

Eur J Biochem. 1995 Jul 15;231(2):440-7.

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Carbohydrate epitope structural elucidation by 1H-NMR spectroscopy of a new Mycobacterium kansasii phenolic glycolipid antigen.

Gilleron M, Venisse A, Rivière M, Servin P, Puzo G.

Eur J Biochem. 1990 Oct 24;193(2):449-57.

22.

Structural and immunological properties of the phenolic glycolipids from Mycobacterium gastri and Mycobacterium kansasii.

Gilleron M, Venisse A, Fournie JJ, Riviere M, Dupont MA, Gas N, Puzo G.

Eur J Biochem. 1990 Apr 20;189(1):167-73.

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