Publications by authors named "Nathalie Leporrier"

22Publications

Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.

J Clin Ultrasound 2016 Feb 14;44(2):100-5. Epub 2015 Jul 14.

CHU de Caen, Département d'Obstétrique, Gynécologie et Médecine de la Reproduction, Caen, 14000, France.

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http://dx.doi.org/10.1002/jcu.22275DOI Listing
February 2016

Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy.

J Ultrasound Med 2015 Jan;34(1):169-71

Department of Gynecology, Obstetrics, and Reproductive Medicine (Z.S., G.B.), Department of Medical Genetics (A.M., N.L., M.G.), Department of Pediatric Radiology (F.B.), Department of Fetopathology (C.J.-P.), University of Caen, Caen, France, Department of Virology, Saint Vincent de Paul Hospital, Paris, France (F.R., P.L.), Department of Genetics, University of Clermont-Ferrand, Clermont-Ferrand, France (I.C.).

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http://dx.doi.org/10.7863/ultra.34.1.169DOI Listing
January 2015

Pai syndrome: challenging prenatal diagnosis and management.

Pediatr Radiol 2014 Sep 20;44(9):1184-7. Epub 2014 Apr 20.

Department of Radiology, Centre Hospitalier Universitaire de Caen, Caen, France.

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http://dx.doi.org/10.1007/s00247-014-2966-4DOI Listing
September 2014

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

Eur J Med Genet 2013 Oct 15;56(10):580-3. Epub 2013 Aug 15.

Service de Génétique, laboratoire de Cytogénétique, CHU de Caen, Université Caen Basse-Normandie, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.08.002DOI Listing
October 2013

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Am J Med Genet A 2013 Oct 8;161A(10):2582-7. Epub 2013 Aug 8.

Department of Genetics, Hôpital Côte de Nacre, Caen, France.

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http://dx.doi.org/10.1002/ajmg.a.36085DOI Listing
October 2013

Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.

Prenat Diagn 2012 Apr 24;32(4):383-8. Epub 2011 Oct 24.

Laboratoire de Cytogénétique Prénatale, Service de Génétique, CHU Caen Côte de Nacre, UFR de Médecine Caen, Caen, France.

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http://doi.wiley.com/10.1002/pd.2861
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http://dx.doi.org/10.1002/pd.2861DOI Listing
April 2012

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.

Am J Med Genet A 2010 Jan;152A(1):185-90

Laboratoire de cytogénétique prénatale niveau 3, Centre Hospitalier Universitaire de Caen, Avenue Côte de Nacre, 14033 Caen Cedex, France.

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http://doi.wiley.com/10.1002/ajmg.a.33154
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http://dx.doi.org/10.1002/ajmg.a.33154DOI Listing
January 2010

Second-trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies.

Prenat Diagn 2008 Dec;28(12):1105-9

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

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http://dx.doi.org/10.1002/pd.2145DOI Listing
December 2008

Supernumerary marker chromosomes management in prenatal diagnosis.

Am J Med Genet A 2008 Nov;146A(21):2770-6

Laboratoire de Cytogénétique Prénatale, Département de Génétique, CHU Caen, Caen Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.32532DOI Listing
November 2008

Maternal serum screening in cases of mosaic and translocation Down syndrome.

Prenat Diagn 2008 Aug;28(8):699-703

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

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http://dx.doi.org/10.1002/pd.2051DOI Listing
August 2008

First-trimester screening for Down's syndrome.

N Engl J Med 2004 Feb;350(6):619-21; author reply 619-21

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February 2004