PubMed

Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W.

Gene. 2013 Feb 15;515(1):84-8. doi: 10.1016/j.gene.2012.11.023. Epub 2012 Dec 6.

Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ.

Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434.

Cardenas-Rodriguez M, Osborn DP, Irigoín F, Graña M, Romero H, Beales PL, Badano JL.

Hum Genet. 2013 Jan;132(1):91-105. doi: 10.1007/s00439-012-1228-5. Epub 2012 Sep 27.

Marion V, Mockel A, De Melo C, Obringer C, Claussmann A, Simon A, Messaddeq N, Durand M, Dupuis L, Loeffler JP, King P, Mutter-Schmidt C, Petrovsky N, Stoetzel C, Dollfus H.

Cell Metab. 2012 Sep 5;16(3):363-77. doi: 10.1016/j.cmet.2012.08.005.

Pedersen LB, Christensen ST.

Nat Cell Biol. 2012 Sep;14(9):904-6. doi: 10.1038/ncb2569.

Wei Q, Zhang Y, Li Y, Zhang Q, Ling K, Hu J.

Nat Cell Biol. 2012 Sep;14(9):950-7. doi: 10.1038/ncb2560. Epub 2012 Aug 26.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

Bahceci M, Dolek D, Tutuncuoglu P, Gorgel A, Oruk G, Yenen I.

Eat Weight Disord. 2012 Mar;17(1):e66-9. Review.

Büscher AK, Cetiner M, Büscher R, Wingen AM, Hauffa BP, Hoyer PF.

Pediatr Nephrol. 2012 Nov;27(11):2065-71. doi: 10.1007/s00467-012-2220-y. Epub 2012 Jun 5.

Billingsley G, Vincent A, Deveault C, Héon E.

Ophthalmic Genet. 2012 Sep;33(3):150-4. doi: 10.3109/13816810.2012.689411. Epub 2012 May 24.

Majumdar U, Arya G, Singh S, Pillai A, Nair PP.

BMJ Case Rep. 2012 Apr 23;2012. doi:pii: bcr1220115320. 10.1136/bcr.12.2011.5320.

Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H.

J Med Genet. 2012 May;49(5):317-21. doi: 10.1136/jmedgenet-2012-100737. Epub 2012 Apr 17.

Desai HH, Patel M, Gonsai RN.

J Indian Med Assoc. 2011 Sep;109(9):678.

Veleri S, Bishop K, Dalle Nogare DE, English MA, Foskett TJ, Chitnis A, Sood R, Liu P, Swaroop A.

PLoS One. 2012;7(3):e34389. doi: 10.1371/journal.pone.0034389. Epub 2012 Mar 29.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A.

J Clin Invest. 2012 Apr 2;122(4):1233-45. doi: 10.1172/JCI60981. Epub 2012 Mar 26. Erratum in: J Clin Invest. 2012 Aug 1;122(8):3025. Zhang, Jun [added].

Saudou F.

J Clin Invest. 2012 Apr 2;122(4):1198-202. doi: 10.1172/JCI62971. Epub 2012 Mar 26.

Kumar S, Mahajan BB, Mittal J.

Indian J Dermatol Venereol Leprol. 2012 Mar-Apr;78(2):228. doi: 10.4103/0378-6323.93656.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL.

Arch Ophthalmol. 2012 Jul 1;130(7):901-7. doi: 10.1001/archophthalmol.2012.89.

Berezovsky A, Rocha DM, Sacai PY, Watanabe SS, Cavascan NN, Salomão SR.

Clinics (Sao Paulo). 2012;67(2):145-9.

Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS.

Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22.