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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM. Smirnov V, et al. Among authors: muller j. Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410. Int J Mol Sci. 2021. PMID: 34203883 Free PMC article.
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H. Laurier V, et al. Among authors: muller j. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823392
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL. Dollfus H, et al. Among authors: muller j. Med Sci (Paris). 2006 Nov;22(11):901-4. doi: 10.1051/medsci/20062211901. Med Sci (Paris). 2006. PMID: 17101080 Free article. French. No abstract available.
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss JP, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H. Bloch-Zupan A, et al. Among authors: muller j. Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi: 10.1016/j.ajhg.2011.11.002. Am J Hum Genet. 2011. PMID: 22152679 Free PMC article.
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, Letsch J, Kribs M, Mutter C, Muller J, Stoetzel C, Fischbach M, Marion V, Katsanis N, Dollfus H. Schaefer E, et al. Among authors: muller j. Mol Syndromol. 2011 Sep;1(6):273-281. doi: 10.1159/000331268. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190896 Free PMC article.
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
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. Redin C, et al. Among authors: muller j. J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7. J Med Genet. 2012. PMID: 22773737 Free PMC article.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H. Scheidecker S, et al. Among authors: muller j. J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136/jmedgenet-2013-101785. Epub 2013 Sep 11. J Med Genet. 2014. PMID: 24026985 Free PMC article.
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: muller j. Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11. Mol Syndromol. 2014. PMID: 25565929 Free PMC article.
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK. Marshall JD, et al. Among authors: muller j. Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18. Hum Mutat. 2015. PMID: 25846608 Free PMC article.
6,818 results