Holder-Espinasse M - Search Results

1

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

Holder-Espinasse M, Fayoux P, Morillon S, Fourier C, Dieux-Coeslier A, Manouvrier-Hanu S, Le Merrer M, Hall CM. Holder-Espinasse M, et al. Clin Dysmorphol. 2004 Jul;13(3):133-135. doi: 10.1097/01.mcd.0000130236.02981.c5. Clin Dysmorphol. 2004. PMID: 15194947

2

Crane-Heise syndrome: two further case reports.

Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M. Petit F, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):169-72. doi: 10.1016/j.ejmg.2010.11.004. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094705

3

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, Figeac M, Porchet N, Manouvrier-Hanu S, Escande F. Ghoumid J, et al. Eur J Hum Genet. 2016 Jan;24(1):44-50. doi: 10.1038/ejhg.2015.77. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898926 Free PMC article.

4

A new mutation in TP63 is associated with age-related pathology.

Holder-Espinasse M, Martin-Coignard D, Escande F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Eur J Hum Genet. 2007 Nov;15(11):1115-20. doi: 10.1038/sj.ejhg.5201888. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609671 Review.

5

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14. Eur J Med Genet. 2008. PMID: 18222743

6

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

Petit F, Jourdain AS, Holder-Espinasse M, Keren B, Andrieux J, Duterque-Coquillaud M, Porchet N, Manouvrier-Hanu S, Escande F. Petit F, et al. Eur J Hum Genet. 2016 Jan;24(1):37-43. doi: 10.1038/ejhg.2015.53. Epub 2015 Mar 18. Eur J Hum Genet. 2016. PMID: 25782671 Free PMC article.

7

Genetics of limb anomalies in humans.

Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S. Manouvrier-Hanu S, et al. Trends Genet. 1999 Oct;15(10):409-17. doi: 10.1016/s0168-9525(99)01823-5. Trends Genet. 1999. PMID: 10498937 Review.

8

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F. Petit F, et al. Clin Genet. 2014 May;85(5):464-9. doi: 10.1111/cge.12219. Epub 2013 Jul 15. Clin Genet. 2014. PMID: 23790188

9

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Petit F, et al. Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12. Clin Genet. 2014. PMID: 24003905

10

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.

Ghoumid J, Ansart-Franquet H, Subtil D, Pasz N, Devisme L, Amiel J, Andrieux J, Manouvrier-Hanu S, Holder-Espinasse M. Ghoumid J, et al. Prenat Diagn. 2009 Nov;29(11):1064-5. doi: 10.1002/pd.2338. Prenat Diagn. 2009. PMID: 19650062 No abstract available.

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