Serre JL - Search Results

1

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E. Simon-Bouy B, et al. Among authors: serre jl. Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088. Prenat Diagn. 2008. PMID: 18925618

2

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

Spentchian M, Brun-Heath I, Taillandier A, Fauvert D, Serre JL, Simon-Bouy B, Carvalho F, Grochova I, Mehta SG, Müller G, Oberstein SL, Ogur G, Sharif S, Mornet E. Spentchian M, et al. Among authors: serre jl. Genet Test. 2006 Winter;10(4):252-7. doi: 10.1089/gte.2006.10.252. Genet Test. 2006. PMID: 17253930

3

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E. Taillandier A, et al. Among authors: serre jl. J Clin Endocrinol Metab. 2005 Apr;90(4):2436-9. doi: 10.1210/jc.2004-1456. Epub 2005 Jan 25. J Clin Endocrinol Metab. 2005. PMID: 15671102

4

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.

Brun-Heath I, Taillandier A, Serre JL, Mornet E. Brun-Heath I, et al. Among authors: serre jl. Mol Genet Metab. 2005 Mar;84(3):273-7. doi: 10.1016/j.ymgme.2004.11.003. Epub 2004 Dec 19. Mol Genet Metab. 2005. PMID: 15694177

5

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E. Fauvert D, et al. Among authors: serre jl. BMC Med Genet. 2009 Jun 6;10:51. doi: 10.1186/1471-2350-10-51. BMC Med Genet. 2009. PMID: 19500388 Free PMC article.

6

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E. Spentchian M, et al. Among authors: serre jl. Hum Mutat. 2003 Jul;22(1):105-6. doi: 10.1002/humu.9159. Hum Mutat. 2003. PMID: 12815606

7

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.

Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, De Mazancourt P, Serre JL, Mornet E. Brun-Heath I, et al. Among authors: serre jl. Clin Genet. 2008 Mar;73(3):245-50. doi: 10.1111/j.1399-0004.2007.00902.x. Epub 2007 Oct 7. Clin Genet. 2008. PMID: 17922851

8

[The prenatal diagnosis is not the eugenics].

Simon-Bouy B, Serre JL. Simon-Bouy B, et al. Among authors: serre jl. Gynecol Obstet Fertil. 2015 Apr;43(4):263-5. doi: 10.1016/j.gyobfe.2015.02.013. Epub 2015 Mar 26. Gynecol Obstet Fertil. 2015. PMID: 25819389 French. No abstract available.

9

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Mornet E, et al. Among authors: serre jl. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036

10

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E. Taillandier A, et al. Among authors: serre jl. Hum Mutat. 1999;13(2):171-2. doi: 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>3.0.co;2-t. Hum Mutat. 1999. PMID: 10094560

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