Stoetzel C - Search Results

1

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H. Schaefer E, et al. Among authors: stoetzel c. Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29. Eur J Med Genet. 2011. PMID: 21044901

2

The locations of the H-twist and H-dermo-1 genes are distinct on the human genome.

Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM. Perrin-Schmitt F, et al. Among authors: stoetzel c. Biochim Biophys Acta. 1997 Feb 27;1360(1):1-2. doi: 10.1016/s0925-4439(96)00071-3. Biochim Biophys Acta. 1997. PMID: 9061034 Free article. No abstract available.

3

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.

Bourgeois P, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F. Bourgeois P, et al. Among authors: stoetzel c. Hum Mol Genet. 1998 Jun;7(6):945-57. doi: 10.1093/hmg/7.6.945. Hum Mol Genet. 1998. PMID: 9580658

4

Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.

Dollfus H, Kumaramanickavel G, Biswas P, Stoetzel C, Quillet R, Denton M, Maw M, Perrin-Schmitt F. Dollfus H, et al. Among authors: stoetzel c. J Med Genet. 2001 Jul;38(7):470-2. doi: 10.1136/jmg.38.7.470. J Med Genet. 2001. PMID: 11474656 Free PMC article. No abstract available.

5

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.

Dollfus H, Biswas P, Kumaramanickavel G, Stoetzel C, Quillet R, Biswas J, Lajeunie E, Renier D, Perrin-Schmitt F. Dollfus H, et al. Among authors: stoetzel c. Am J Med Genet. 2002 May 1;109(3):218-25. doi: 10.1002/ajmg.10349. Am J Med Genet. 2002. PMID: 11977182

6

Natural TWIST protein variants in a panel of eleven non-human primates: possible implications of TWIST gene-tree for primate species tree.

Gachot-Neveu H, Stoetzel C, Quillet R, Dollfus H, Perrin-Schmitt F. Gachot-Neveu H, et al. Among authors: stoetzel c. Dev Genes Evol. 2002 Nov;212(10):496-503. doi: 10.1007/s00427-002-0263-y. Dev Genes Evol. 2002. PMID: 12523351

7

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.

Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, Abu-Eid M, Speeg-Schatz C, Francfort JJ, Flament J, Veillon F, Perrin-Schmitt F. Dollfus H, et al. Among authors: stoetzel c. Clin Genet. 2003 Feb;63(2):117-20. doi: 10.1034/j.1399-0004.2003.00011.x. Clin Genet. 2003. PMID: 12630957

8

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H. Hichri H, et al. Among authors: stoetzel c. Eur J Hum Genet. 2005 May;13(5):607-16. doi: 10.1038/sj.ejhg.5201372. Eur J Hum Genet. 2005. PMID: 15770229

9

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H. Stoetzel C, et al. J Hum Genet. 2006;51(1):81-84. doi: 10.1007/s10038-005-0320-2. Epub 2005 Nov 25. J Hum Genet. 2006. PMID: 16308660

10

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. Stoetzel C, et al. Nat Genet. 2006 May;38(5):521-4. doi: 10.1038/ng1771. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582908

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