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Items: 37


Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M.

Haematologica. 2019 Jul 4. pii: haematol.2019.217539. doi: 10.3324/haematol.2019.217539. [Epub ahead of print]


Leukemic non-nodal mantle cell lymphomas have a distinct phenotype and are associated with deletion of PARP1 and 13q14.

Gallo M, Cacheux V, Vincent L, Bret C, Tempier A, Guittard C, Macé A, Leventoux N, Costes V, Szablewski V.

Virchows Arch. 2016 Dec;469(6):697-706. Epub 2016 Sep 7.


Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.

Taulan M, Viart V, Theze C, Guittard C, Altieri JP, Templin C, Mely L, Claustres M, des Georges M.

Gene. 2012 Jun 1;500(2):194-8. doi: 10.1016/j.gene.2012.03.043. Epub 2012 Mar 29.


A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E.

J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23.


Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.

Lopez E, Viart V, Guittard C, Templin C, René C, Méchin D, Des Georges M, Claustres M, Romey-Chatelain MC, Taulan M.

J Med Genet. 2011 Mar;48(3):152-9. doi: 10.1136/jmg.2010.081851. Epub 2010 Oct 23.


p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

René C, Paulet D, Girodon E, Costa C, Lalau G, Leclerc J, Cabet-Bey F, Bienvenu T, Blayau M, Iron A, Mittre H, Feldmann D, Guittard C, Claustres M, Georges Md.

Eur J Hum Genet. 2011 Jan;19(1):36-42. doi: 10.1038/ejhg.2010.137. Epub 2010 Aug 18.


UMD-CFTR: a database dedicated to CF and CFTR-related disorders.

Bareil C, Thèze C, Béroud C, Hamroun D, Guittard C, René C, Paulet D, Georges Md, Claustres M.

Hum Mutat. 2010 Sep;31(9):1011-9. doi: 10.1002/humu.21316.


A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.

Taulan M, Guittard C, Theze C, Claustres M, Georges Md.

Eur J Hum Genet. 2009 Dec;17(12):1683-7. doi: 10.1038/ejhg.2009.73. Epub 2009 May 13.


WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.

des Georges M, Guittard C, Templin C, Altiéri JP, de Carvalho C, Ramsay M, Claustres M.

J Mol Diagn. 2008 Nov;10(6):544-8. doi: 10.2353/jmoldx.2008.080028. Epub 2008 Oct 2.


Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.

Girardet A, Guittard C, Altieri JP, Templin C, Stremler N, Beroud C, des Georges M, Claustres M.

Clin Genet. 2007 Oct;72(4):374-7. No abstract available.


First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.

Taulan M, Lopez E, Guittard C, René C, Baux D, Altieri JP, DesGeorges M, Claustres M, Romey MC.

Biochem Biophys Res Commun. 2007 Sep 28;361(3):775-81. Epub 2007 Jul 25.


Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M.

BMC Med Genet. 2007 Apr 20;8:22.


High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

des Georges M, Guittard C, Altiéri JP, Templin C, Sarles J, Sarda P, Claustres M.

J Cyst Fibros. 2004 Dec;3(4):265-72.


A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges Md, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrézet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF.

Eur J Hum Genet. 2005 Feb;13(2):184-92.


Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M.

BMC Med Genet. 2004 Aug 2;5:19.


Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR.

Am J Hum Genet. 2004 Jan;74(1):176-9. Epub 2003 Dec 18.


The contribution of epidemiology.

van den Brandt P, Voorrips L, Hertz-Picciotto I, Shuker D, Boeing H, Speijers G, Guittard C, Kleiner J, Knowles M, Wolk A, Goldbohm A.

Food Chem Toxicol. 2002 Feb-Mar;40(2-3):387-424. Review.


No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.

Tuffery-Giraud S, Cavalier L, Roubertie A, Guittard C, Carles S, Calvas P, Echenne B, Coubes P, Claustres M.

J Med Genet. 2001 Oct;38(10):E35. No abstract available.


[Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells].

Feldmann D, Guittard C, Georges MD, Houdayer C, Magnier C, Claustres M, Couderc R.

Ann Biol Clin (Paris). 2001 May-Jun;59(3):277-83. French.


The molecular basis of cystic fibrosis in South Africa.

Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M.

Clin Genet. 2001 Jan;59(1):37-41.


Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD.

Hum Mutat. 2000;16(2):143-56.


BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.

Schmitt-Bernard CF, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S.

Invest Ophthalmol Vis Sci. 2000 May;41(6):1302-8.


Is isolated idiopathic pancreatitis associated with CFTR mutations?

Pallares-Ruiz N, Carles S, des Georges M, Guittard C, Claustres M, Larrey D, Pageaux G.

Gut. 2000 Jan;46(1):141. No abstract available.


Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

Pallares-Ruiz N, Carles S, Des Georges M, Guittard C, Arnal F, Humeau C, Claustres M.

Hum Reprod. 1999 Dec;14(12):3035-40.


Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC, Guittard C, Chazalette JP, Frossard P, Dawson KP, Patton MA, Casals T, Bazarbachi T, Girodon E, Rault G, Bozon D, Seguret F, Demaille J, Claustres M.

Hum Genet. 1999 Jul-Aug;105(1-2):145-50.


First putative sequence alterations in the minimal CFTR promoter region.

Romey MC, Guittard C, Carles S, Demaille J, Claustres M, Ramsay M.

J Med Genet. 1999 Mar;36(3):263-4. No abstract available.


Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M.

Hum Mutat. 1998;11(6):480.


Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M.

J Med Genet. 1998 Jul;35(7):594-6.


The cholesterol-lowering effect of guar gum is not the result of a simple diversion of bile acids toward fecal excretion.

Favier ML, Bost PE, Guittard C, Demigné C, Rémésy C.

Lipids. 1997 Sep;32(9):953-9.


Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M.

Hum Genet. 1997 Aug;100(2):279-83.


First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, de Ravel TJ, Westwood AT, Claustres M, Ramsay M.

J Med Genet. 1996 Sep;33(9):802-4.


[Luteal support after administration of an LHRH analog for in vitro fertilization. Superiority of vaginal progesterone in comparison with oral progesterone].

Buvat J, Marcolin G, Guittard C, Dehaene JL, Herbaut JC, Louvet AL.

Presse Med. 1990 Mar 24;19(11):527. French. No abstract available.


[Chorionic gonadotropin support of the luteal phase following in vitro fertilization and embryo transfer. Randomized comparison with oral progesterone in protocols using triptoreline].

Buvat J, Marcolin G, Guittard C, Dehaene JL, Verbecq P, Renouard O, Herbaut JC, Louvet AL.

Presse Med. 1989 Mar 11;18(10):539. French. No abstract available.


["Does dipyridamole (Persantin) possess antithrombotic activity?"].

Guittard C, Odavic R.

Schweiz Med Wochenschr. 1985 Aug 6;115(31-32):1107-9. German. No abstract available.


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