Publications by authors named "Catherine Turleau"

22Publications

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

Cytogenet Genome Res 2017 9;151(3):115-118. Epub 2017 Mar 9.

Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000460278DOI Listing
September 2017

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.

Cytogenet Genome Res 2014 15;144(3):178-82. Epub 2014 Nov 15.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000369117DOI Listing
April 2015

An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Am J Med Genet A 2012 Feb 7;158A(2):400-5. Epub 2011 Dec 7.

Hospices Civils de Lyon, Service de Génétique Moléculaire et Clinique, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.34222DOI Listing
February 2012

[Trisomy 21: fifty years between medicine and science].

Med Sci (Paris) 2010 Mar;26(3):267-72

Service de cytogénétique, Hôpital Necker-Enfants malades, 149, rue de Sèvres, 75743 Paris, France.

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http://dx.doi.org/10.1051/medsci/2010263267DOI Listing
March 2010

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

Distal Xq duplication and functional Xq disomy.

Orphanet J Rare Dis 2009 Feb 20;4. Epub 2009 Feb 20.

Hospices Civils de Lyon, Centre de Biologie et de Pathologie Est, Service de Cytogénétique Constitutionnelle, Lyon, France.

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http://dx.doi.org/10.1186/1750-1172-4-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649904PMC
February 2009

Monosomy 18p.

Orphanet J Rare Dis 2008 Feb 19;3. Epub 2008 Feb 19.

Cytogénétique AP-HP et Inserm U781, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France.

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http://dx.doi.org/10.1186/1750-1172-3-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265258PMC
February 2008

De novo trisomy 20p of paternal origin.

Am J Med Genet A 2007 May;143A(10):1100-3

Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunisie.

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http://dx.doi.org/10.1002/ajmg.a.31704DOI Listing
May 2007

[Problems posed by genetic diseases: trisomy 21].

Rev Prat 2006 Jun;56(12):1357-62

Service d'embryologie et de cytogénétique, hôpital Necker-Enfants malades, 75743 Paris 15.

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June 2006

[New developments in cytogenetics].

Med Sci (Paris) 2005 Nov;21(11):940-6

Service de Cytogénétique et Inserm U.393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://www.medecinesciences.org/10.1051/medsci/20052111940
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http://dx.doi.org/10.1051/medsci/20052111940DOI Listing
November 2005

Molecular karyotyping in human constitutional cytogenetics.

Eur J Med Genet 2005 Jul-Sep;48(3):214-31

Service de cytogénétique, laboratoire de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.013DOI Listing
November 2005

Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20.

Am J Med Genet A 2005 Oct;138A(3):288-93

Laboratoire de Cytogénétique, Groupe Hospitalier Cochin-Saint-Vincent-de-Paul, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.30966DOI Listing
October 2005

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Hum Genet 1981 May;57(3):300-306

Groupe de Pathologie Pédiatrique (I.N.S.E.R.M.U.77), Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.

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http://dx.doi.org/10.1007/BF00278949DOI Listing
May 1981