Mandel JL - 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: mandel jl. 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

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

Biancalana V, Taine L, Bouix JC, Finck S, Chauvin A, De Verneuil H, Knight SJ, Stoll C, Lacombe D, Mandel JL. Biancalana V, et al. Among authors: mandel jl. Am J Hum Genet. 1996 Oct;59(4):847-54. Am J Hum Genet. 1996. PMID: 8808600 Free PMC article.

3

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.

Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL. Guiraud-Chaumeil C, et al. Among authors: mandel jl. Am J Hum Genet. 1997 Jun;60(6):1542-4. doi: 10.1016/S0002-9297(07)64249-9. Am J Hum Genet. 1997. PMID: 9199578 Free PMC article. No abstract available.

4

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.

Moutou C, Vincent MC, Biancalana V, Mandel JL. Moutou C, et al. Among authors: mandel jl. Hum Mol Genet. 1997 Jul;6(7):971-9. doi: 10.1093/hmg/6.7.971. Hum Mol Genet. 1997. PMID: 9215664

5

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL. Vincent MC, et al. Among authors: mandel jl. J Med Genet. 1998 Mar;35(3):241-3. doi: 10.1136/jmg.35.3.241. J Med Genet. 1998. PMID: 9541111 Free PMC article.

6

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P. Vincent MC, et al. Among authors: mandel jl. Eur J Hum Genet. 2001 May;9(5):355-63. doi: 10.1038/sj.ejhg.5200635. Eur J Hum Genet. 2001. PMID: 11378824

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: mandel jl. 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

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.

Flori E, Biancalana V, Girard-Lemaire F, Favre R, Flori J, Doray B, Mandel JL. Flori E, et al. Among authors: mandel jl. Eur J Hum Genet. 2004 Mar;12(3):181-6. doi: 10.1038/sj.ejhg.5201134. Eur J Hum Genet. 2004. PMID: 14694357

9

[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. Among authors: mandel jl. 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.

10

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

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