Dollfus H - Search Results

1

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: dollfus h. 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.

2

CHARGE syndrome: report of 47 cases and review.

Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Among authors: dollfus h. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.

3

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.

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. Among authors: dollfus h. 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

Dysmorphology and the orbital region: a practical clinical approach.

Dollfus H, Verloes A. Dollfus H, et al. Surv Ophthalmol. 2004 Nov-Dec;49(6):547-61. doi: 10.1016/j.survophthal.2004.08.001. Surv Ophthalmol. 2004. PMID: 15530943 Review.

8

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

Vincent MC, Gallai R, Olivier D, Speeg-Schatz C, Flament J, Calvas P, Dollfus H. Vincent MC, et al. Among authors: dollfus h. Am J Ophthalmol. 2004 Dec;138(6):1016-21. doi: 10.1016/j.ajo.2004.08.003. Am J Ophthalmol. 2004. PMID: 15629294

9

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: dollfus h. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.

10

[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.

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