Maurin ML - Search Results

1

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Petit FM, Hébert M, Picone O, Brisset S, Maurin ML, Parisot F, Capel L, Benattar C, Sénat MV, Tachdjian G, Labrune P. Petit FM, et al. Among authors: maurin ml. Eur J Hum Genet. 2009 Mar;17(3):387-90. doi: 10.1038/ejhg.2008.186. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854864 Free PMC article.

2

Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q.

Cordier AG, Braidy C, Levaillant JM, Brisset S, Maurin ML, Mas AE, Frydman R, Tachdjian G, Picone O. Cordier AG, et al. Among authors: maurin ml. Prenat Diagn. 2008 May;28(5):463-5. doi: 10.1002/pd.2003. Prenat Diagn. 2008. PMID: 18444226 No abstract available.

3

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Tosca L, Brisset S, Petit FM, Lecerf L, Rousseau G, Bas C, Laroudie M, Maurin ML, Tapia S, Picone O, Prevot S, Goossens M, Labrune P, Tachdjian G. Tosca L, et al. Among authors: maurin ml. Eur J Hum Genet. 2010 Aug;18(8):882-8. doi: 10.1038/ejhg.2010.46. Epub 2010 Apr 28. Eur J Hum Genet. 2010. PMID: 20424646 Free PMC article.

4

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.

Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G. Sperelakis-Beedham B, et al. Among authors: maurin ml. Eur J Hum Genet. 2024 Nov 4. doi: 10.1038/s41431-024-01728-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39496895

5

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F. Dupont C, et al. Among authors: maurin ml. Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16. Prenat Diagn. 2015. PMID: 25118001

6

Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.

Lesieur-Sebellin M, Marzin P, Arnoux JB, Maurin ML, Receveur A, Cantagrel V, Rose S, Dorval G, Levy J, Malan V. Lesieur-Sebellin M, et al. Among authors: maurin ml. Eur J Med Genet. 2023 Oct;66(10):104848. doi: 10.1016/j.ejmg.2023.104848. Epub 2023 Sep 20. Eur J Med Genet. 2023. PMID: 37739061

7

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

Souraty N, Sanlaville D, Chédid R, Le Lorc'h M, Maurin ML, Ghanem L, Maalouf S, Vekemans M, Mégarbané A. Souraty N, et al. Among authors: maurin ml. Eur J Med Genet. 2007 Sep-Oct;50(5):379-85. doi: 10.1016/j.ejmg.2007.06.001. Epub 2007 Jul 17. Eur J Med Genet. 2007. PMID: 17716964

8

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.

Maurin ML, Arfeuille C, Sonigo P, Rondeau S, Vekemans M, Turleau C, Ville Y, Malan V. Maurin ML, et al. Cytogenet Genome Res. 2017;151(3):115-118. doi: 10.1159/000460278. Epub 2017 Mar 9. Cytogenet Genome Res. 2017. PMID: 28273668

9

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.

Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, Turleau C. Malan V, et al. Among authors: maurin ml. Cytogenet Genome Res. 2015;147(2-3):103-10. doi: 10.1159/000442904. Epub 2016 Jan 7. Cytogenet Genome Res. 2015. PMID: 26735902

10

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C. Moradkhani K, et al. Among authors: maurin ml. Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19. Prenat Diagn. 2019. PMID: 31273809 Free article.

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