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Page 1
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB. Thauvin-Robinet C, et al. Among authors: thevenon j. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810378 Free PMC article.
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L. Thevenon J, et al. Am J Med Genet A. 2011 Jan;155A(1):126-9. doi: 10.1002/ajmg.a.33809. Am J Med Genet A. 2011. PMID: 21204219 No abstract available.
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, Huet F, Attié-Bitach T, Faivre L, Thauvin-Robinet C. Avila M, et al. Among authors: thevenon j. Hum Mutat. 2011 Nov;32(11):1332-3. doi: 10.1002/humu.21570. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21796731 No abstract available.
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. Thevenon J, et al. J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856. J Med Genet. 2012. PMID: 22693284
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L. Thevenon J, et al. Eur J Hum Genet. 2013 Jan;21(1):82-8. doi: 10.1038/ejhg.2012.116. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713806 Free PMC article.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C. Courcet JB, et al. Among authors: thevenon j. J Med Genet. 2012 Dec;49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25. J Med Genet. 2012. PMID: 23099646
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: thevenon j. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Coron F, Rousseau T, Jondeau G, Gautier E, Binquet C, Gouya L, Cusin V, Odent S, Dulac Y, Plauchu H, Collignon P, Delrue MA, Leheup B, Joly L, Huet F, Thevenon J, Mace G, Cassini C, Thauvin-Robinet C, Wolf JE, Hanna N, Sagot P, Boileau C, Faivre L. Coron F, et al. Among authors: thevenon j. Prenat Diagn. 2012 Dec;32(13):1318-23. doi: 10.1002/pd.4008. Epub 2012 Nov 13. Prenat Diagn. 2012. PMID: 23147988
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Murat A, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Parfait B, Chabre O, Castermans E, Beckers A, Ruszniewski P, Le Bras M, Delemer B, Bouchard P, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Penfornis A, Bihan H, Archambeaud F, Kerlan V, Duron F, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Thevenon J, et al. Hum Mol Genet. 2013 May 15;22(10):1940-8. doi: 10.1093/hmg/ddt039. Epub 2013 Jan 31. Hum Mol Genet. 2013. PMID: 23376981 Free article. Clinical Trial.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Among authors: thevenon j. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
193 results