Publications by authors named "Brigitte Simon-Bouy"

19Publications

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

Eur J Hum Genet 2020 Sep 24. Epub 2020 Sep 24.

Unité de Génétique Constitutionnelle, Service de Biologie, Centre Hospitalier de Versailles, 78150, Le Chesnay, France.

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http://dx.doi.org/10.1038/s41431-020-00732-6DOI Listing
September 2020

[Sounding board. First trimester Down syndrome screening in France].

Rev Prat 2012 Dec;62(10):1340-4

Agence de la biomédecine, avenue du Stade-de-France, 93212 Saint-Denis-La Plaine, France.

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December 2012

A molecular-based estimation of the prevalence of hypophosphatasia in the European population.

Ann Hum Genet 2011 May 24;75(3):439-45. Epub 2011 Mar 24.

Unité de Pathologie Cellulaire et Génétique, Paris Ile de France Ouest PRES Universud Paris, France.

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http://dx.doi.org/10.1111/j.1469-1809.2011.00642.xDOI Listing
May 2011

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

Clin Chem 2009 Dec 15;55(12):2214-7. Epub 2009 Oct 15.

Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.

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http://dx.doi.org/10.1373/clinchem.2009.133298DOI Listing
December 2009

Sperm chromosome analysis in two cases of paracentric inversion.

Fertil Steril 2007 Feb 27;87(2):418.e1-5. Epub 2006 Nov 27.

Departments of reproductive biology, cytogenetics, gynaecology and obstetrics, CHIPS, Poissy, France; INSERM U407, Oullins, France.

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http://dx.doi.org/10.1016/j.fertnstert.2006.05.087DOI Listing
February 2007

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Ann Genet 2004 Jul-Sep;47(3):241-9

Service d'Histologie, Biologie de la Reproduction et Cytogénétique (UPMC-EA 1533), Hôpital Tenon (AP-HP), 75020 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400005
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http://dx.doi.org/10.1016/j.anngen.2004.02.003DOI Listing
October 2004

Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases.

Prenat Diagn 2002 Mar;22(3):189-92

SESEP, Université de Versailles, Versailles, France.

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http://dx.doi.org/10.1002/pd.261DOI Listing
March 2002