Publications by authors named "Andree Delahaye"

19Publications

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Eur J Med Genet 2020 Apr 23;63(4):103814. Epub 2019 Nov 23.

Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103814DOI Listing
April 2020

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Neurology 2014 Sep 6;83(11):1029-31. Epub 2014 Aug 6.

From CHU Nîmes (D.R., P.L.), Hôpital Caremeau; AP-HP, Service de Génétique Neuro-vasculaire (M.M., E.T.-L.), Hôpital Lariboisière, Paris; UMR-S 1161 Université Paris Diderot (M.M., E.T.-L.), Sorbonne Paris Cité, Génétique des Maladies Vasculaires, Paris; and AP-HP, Hôpital Jean Verdier (E.P., A.D., B.B.), Cytogénétique, Bondy, INSERM, Paris, Université Paris Nord, Sorbonne Paris Cité, Bobigny, France.

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http://dx.doi.org/10.1212/WNL.0000000000000769DOI Listing
September 2014

Mutations in the C-terminus of CDKL5: proceed with caution.

Eur J Hum Genet 2014 Feb 12;22(2):270-2. Epub 2013 Jun 12.

1] Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, Paris, France [2] Inserm, U1016, Paris, France [3] Institut Cochin, Université Paris Descartes, Sorbonne Paris Cité, CNRS (UMR 8104), Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895649PMC
February 2014

Chromosomal microarray analysis in ocular developmental anomalies.

Expert Rev Mol Diagn 2012 Jun;12(5):425-7

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http://dx.doi.org/10.1586/erm.12.41DOI Listing
June 2012

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Am J Med Genet A 2008 Nov;146A(22):2971-4

Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, Hopital Jean Verdier, AP-HP, Bondy, France.

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http://dx.doi.org/10.1002/ajmg.a.32547DOI Listing
November 2008

Retrospective diagnosis of Pallister-Killian syndrome by CGH array.

Fetal Diagn Ther 2006 12;21(6):485-8. Epub 2006 Sep 12.

Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, France.

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https://www.karger.com/Article/FullText/95658
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http://dx.doi.org/10.1159/000095658DOI Listing
January 2007

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

Clin Chem 2003 Nov;49(11):1942-5

Service de Biochimie et de Génétique Moléculaire, Hôpital Henri Mondor, AP-HP, 94010 Créteil, France.

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http://dx.doi.org/10.1373/clinchem.2003.021212DOI Listing
November 2003

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Hum Mutat 2003 Oct;22(4):339-40

Service de Biochimie, hôpital Henri-Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.9182
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http://dx.doi.org/10.1002/humu.9182DOI Listing
October 2003