Perrin-Schmitt F - Search Results

1

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. Eur J Hum Genet. 2005 May;13(5):607-16. doi: 10.1038/sj.ejhg.5201372. Eur J Hum Genet. 2005. PMID: 15770229

2

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

3

[Update on Bardet-Biedl syndrome].

Dollfus H, Verloes A, Bonneau D, Cossée M, Perrin-Schmitt F, Brandt C, Flament J, Mandel JL. Dollfus H, et al. J Fr Ophtalmol. 2005 Jan;28(1):106-12. doi: 10.1016/s0181-5512(05)81032-0. J Fr Ophtalmol. 2005. PMID: 15767906 Review. French.

4

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. Am J Med Genet. 2002 May 1;109(3):218-25. doi: 10.1002/ajmg.10349. Am J Med Genet. 2002. PMID: 11977182

5

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. Dev Genes Evol. 2002 Nov;212(10):496-503. doi: 10.1007/s00427-002-0263-y. Dev Genes Evol. 2002. PMID: 12523351

6

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. Clin Genet. 2003 Feb;63(2):117-20. doi: 10.1034/j.1399-0004.2003.00011.x. Clin Genet. 2003. PMID: 12630957

7

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. Hum Mol Genet. 1998 Jun;7(6):945-57. doi: 10.1093/hmg/7.6.945. Hum Mol Genet. 1998. PMID: 9580658

8

Sequence-specific transactivation of the Drosophila twist gene by the dorsal gene product.

Thisse C, Perrin-Schmitt F, Stoetzel C, Thisse B. Thisse C, et al. Cell. 1991 Jun 28;65(7):1191-201. doi: 10.1016/0092-8674(91)90014-p. Cell. 1991. PMID: 1648449

9

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. 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.

10

[Genetic origin of non-syndromic cleft lip and palate. TWIST, a candidate gene? Research protocol].

Bacon W, Tschill P, Grollemund B, Matern O, Rinkenbach R, Sauvage P, Kaufmann I, Bousquet P, Brandt C, Perrin-Schmitt F. Bacon W, et al. Among authors: perrin schmitt f. Orthod Fr. 2007 Dec;78(4):249-55. doi: 10.1051/orthodfr:2007028. Epub 2007 Dec 18. Orthod Fr. 2007. PMID: 18082115 French.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

41 results

Search Page

Filters