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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13.
J Med Genet. 2017.
PMID: 28289185
Free PMC article.
Review.
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C.
Darmency-Stamboul V, et al. Among authors: desguerres i.
Eur J Med Genet. 2013 Jun;56(6):301-8. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21.
Eur J Med Genet. 2013.
PMID: 23523602
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Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?
Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A.
Mégarbané A, et al. Among authors: desguerres i.
Am J Med Genet. 2000 May 15;92(2):117-21. doi: 10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c.
Am J Med Genet. 2000.
PMID: 10797435
Review.
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.
Laquérriere A, et al. Among authors: desguerres i.
Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.
Hum Mol Genet. 2014.
PMID: 24319099
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Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review.
Steiner J, Adamsbaum C, Desguerres I, Lalande G, Raynaud F, Ponsot G, Kalifa G.
Steiner J, et al. Among authors: desguerres i.
Pediatr Radiol. 1996 Nov;26(11):763-8. doi: 10.1007/BF01396196.
Pediatr Radiol. 1996.
PMID: 8929372
Review.
Item in Clipboard
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.
Panagiotakaki E, et al.
Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.
Orphanet J Rare Dis. 2015.
PMID: 26410222
Free PMC article.
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Peripheral neuropathy and inborn errors of metabolism in adults.
Sedel F, Barnerias C, Dubourg O, Desguerres I, Lyon-Caen O, Saudubray JM.
Sedel F, et al. Among authors: desguerres i.
J Inherit Metab Dis. 2007 Oct;30(5):642-53. doi: 10.1007/s10545-007-0684-x. Epub 2007 Sep 21.
J Inherit Metab Dis. 2007.
PMID: 17879144
Review.
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