Dollfus H - Search Results

1

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

Bennouna-Greene V, Kremer S, Stoetzel C, Christmann D, Schuster C, Durand M, Verloes A, Sigaudy S, Holder-Espinasse M, Godet J, Brandt C, Marion V, Danion A, Dietemann JL, Dollfus H. Bennouna-Greene V, et al. Among authors: dollfus h. Clin Genet. 2011 Dec;80(6):523-31. doi: 10.1111/j.1399-0004.2011.01688.x. Epub 2011 May 25. Clin Genet. 2011. PMID: 21517826

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

Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.

Alembik Y, Christmann D, de Saint Martin A, Eliot M, Dollfus H, Pauly F, Stoll C. Alembik Y, et al. Among authors: dollfus h. Ann Genet. 1999;42(4):225-30. Ann Genet. 1999. PMID: 10674163

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. 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

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H. Minn D, et al. Among authors: dollfus h. Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348. Am J Med Genet. 2002. PMID: 11977181 Review.

6

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

7

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H. Lagier-Tourenne C, et al. Among authors: dollfus h. J Med Genet. 2002 Nov;39(11):838-43. doi: 10.1136/jmg.39.11.838. J Med Genet. 2002. PMID: 12414825 Free PMC article. No abstract available.

8

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

9

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

10

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.

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