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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. Among authors: litzler j. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T. Thomas S, et al. Among authors: litzler j. Hum Mutat. 2014 Jan;35(1):137-46. doi: 10.1002/humu.22470. Hum Mutat. 2014. PMID: 24166846 Free PMC article.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S. Lerat J, et al. Among authors: litzler j. Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30298622
[Quid? Lead pellets in the appendix].
Delabrousse E, Sohm O, Brunelle S, Litzler J, Clair C, Kastler B. Delabrousse E, et al. Among authors: litzler j. J Radiol. 2002 Feb;83(2 Pt 1):169-71. J Radiol. 2002. PMID: 11965167 French. No abstract available.
[Thoracic aortic coarctation: MRI evaluation and follow-up].
Papavero R, Kastler B, Clair C, Litzler J, Delabrousse E, Livolsi A, Scheneider P, Site O, Bernard Y. Papavero R, et al. Among authors: litzler j. J Radiol. 2001 May;82(5):555-61. J Radiol. 2001. PMID: 11416793 French.
False lumen patency as a predictor of late outcome in aortic dissection.
Bernard Y, Zimmermann H, Chocron S, Litzler JF, Kastler B, Etievent JP, Meneveau N, Schiele F, Bassand JP. Bernard Y, et al. Among authors: litzler jf. Am J Cardiol. 2001 Jun 15;87(12):1378-82. doi: 10.1016/s0002-9149(01)01556-9. Am J Cardiol. 2001. PMID: 11397357
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