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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T.

Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23.


Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Masurel-Paulet A, Kalscheuer VM, Lebrun N, Hu H, Levy F, Thauvin-Robinet C, Darmency-Stamboul V, El Chehadeh S, Thevenon J, Chancenotte S, Ruffier-Bourdet M, Bonnet M, Pinoit JM, Huet F, Desportes V, Chelly J, Faivre L.

Am J Med Genet A. 2014 Mar;164A(3):789-95. doi: 10.1002/ajmg.a.36348. Epub 2013 Dec 19.


20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc'h K, Launay JM, Faivre L, Mandel JL.

Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30.


3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.

J Med Genet. 2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16.


Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.

Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Béri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L.

Am J Med Genet A. 2013 Jun;161A(6):1505-7. doi: 10.1002/ajmg.a.35878. Epub 2013 Apr 23. No abstract available.


Listeria monocytogenes-associated joint and bone infections: a study of 43 consecutive cases.

Charlier C, Leclercq A, Cazenave B, Desplaces N, Travier L, Cantinelli T, Lortholary O, Goulet V, Le Monnier A, Lecuit M; L monocytogenes Joint and Bone Infections Study Group.

Clin Infect Dis. 2012 Jan 15;54(2):240-8. doi: 10.1093/cid/cir803. Epub 2011 Nov 18.


ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL.

Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785.


[Acute infection of soft parts (abscess, witlow, plegmon of soft parts)].

Pinoit Y, Senneville E, Migaud H.

Rev Prat. 2010 May 20;60(5):685-7. French. No abstract available.


[Genetic testing in asymptomatic minors: a survey among French geneticists].

Joly L, Thauvin-Robinet C, Huet F, Pinoit JM, Contrain A, Cassini C, Coron F, Gautier E, Bonin B, Gargiulo M, Heron D, Dürr A, Faivre L; groupe de génétique prédictive et le groupe de réflexion autour du diagnostic présymptomatique chez les mineurs.

Arch Pediatr. 2010 Jul;17(7):1000-7. doi: 10.1016/j.arcped.2010.03.016. Epub 2010 May 7. French.


Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.

Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9.


Hypokalemia is associated with lengthening of QT interval in psychiatric patients on admission.

Trojak B, Astruc K, Pinoit JM, Chauvet-Gelinier JC, Ponavoy E, Bonin B, Gisselmann A.

Psychiatry Res. 2009 Oct 30;169(3):257-60. doi: 10.1016/j.psychres.2008.06.031. Epub 2009 Sep 10.


Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.


[In chronic hepatitis C, delays between diagnosis and treatment are linked to the doctor-patient relationship].

Enel C, Minello A, Jooste V, Pinoit JM, Hillon P.

Med Sci (Paris). 2009 May;25(5):519-23. doi: 10.1051/medsci/2009255519. French.


[Metal-on-metal hip replacement using Metasul cups cemented into Muller reinforcement rings after a mean 5-year (3-8) follow-up: improvement of acetabular fixation by comparing with direct cementation to bone].

Girard J, Herent S, Combes A, Pinoit Y, Soenen M, Laffargue P, Migaud H.

Rev Chir Orthop Reparatrice Appar Mot. 2008 Jun;94(4):346-53. doi: 10.1016/j.rco.2007.11.004. Epub 2008 Mar 4. French.


[Alexithymia and links with depression and anxiety in multiple sclerosis].

Chahraoui K, Pinoit JM, Viegas N, Adnet J, Bonin B, Moreau T.

Rev Neurol (Paris). 2008 Mar;164(3):242-5. doi: 10.1016/j.neurol.2007.09.006. Epub 2008 Feb 15. French.


[Polyethylene liner replacement: behavior and morbidity in 68 cases].

Bidar R, Girard J, May O, Pinoit Y, Laffargue P, Migaud H.

Rev Chir Orthop Reparatrice Appar Mot. 2007 Sep;93(5):461-8. French.


[Low accuracy of the anterior pelvic plane to guide the position of the cup with imageless computer assistance: variation of position in 106 patients].

Pinoit Y, May O, Girard J, Laffargue P, Ala Eddine T, Migaud H.

Rev Chir Orthop Reparatrice Appar Mot. 2007 Sep;93(5):455-60. French.


[Periprosthetic fractures around total hip and knee arthroplasty. Mortality, morbidity and prognostic factors of periprosthetic femoral fractures following hip arthroplasty: multicentric prospective assessment of 115 cases].

Laffargue P, Soenen M, Pinoit Y, Migaud H.

Rev Chir Orthop Reparatrice Appar Mot. 2006 Sep;92(5 Suppl):2S64-2S69. French. No abstract available.


[A new type of acetabular fracture: "true" posterosuperior fracture, a case report].

Berton C, Bachour F, Migaud H, Pinoit Y, Laffargue P.

Rev Chir Orthop Reparatrice Appar Mot. 2007 Feb;93(1):93-7. French.


[Styles of attachment and social support perceived in depressed women].

Chahraoui K, Reynaud M, Pinoit JM, Bénony H, Bonin B, Gisselmann A.

Encephale. 2006 Nov-Dec;32(6 Pt 1):944-52. French.


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