Patricia Blanchet

Patricia Blanchet

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Patricia Blanchet

Patricia Blanchet

Publications by authors named "Patricia Blanchet"

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Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Eur J Hum Genet 2019 Nov 8;27(11):1692-1700. Epub 2019 Jul 8.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Université de Montpellier, CHU de Montpellier, France.

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http://dx.doi.org/10.1038/s41431-019-0433-2DOI Listing
November 2019

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Mol Genet Genomic Med 2019 Nov 7;7(11):e00895. Epub 2019 Sep 7.

Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1002/mgg3.895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825868PMC
November 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Genet Med 2018 02 3;20(2):269-274. Epub 2017 Aug 3.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/gim.2017.109DOI Listing
February 2018

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807PMC
February 2014

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Eur J Hum Genet 2012 May 18;20(5):580-3. Epub 2012 Jan 18.

Département de Pédiatrie spécialisée, Unité de Néphrologie et Endocrinologie pédiatrique, CHRU Montpellier, Faculté de Médecine de Montpellier-Nîmes, Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2011.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330221PMC
May 2012

Prevalence and timing of pregnancy termination for brain malformations.

Arch Dis Child Fetal Neonatal Ed 2011 Sep 19;96(5):F360-4. Epub 2011 Jan 19.

Department of Pathology, Lapeyronie Hospital, Montpellier, France.

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http://dx.doi.org/10.1136/adc.2010.201483DOI Listing
September 2011

Epiphyseal punctate calcifications (stippling) in complete trisomy 9.

Prenat Diagn 2009 Nov;29(11):1085-8

Service de Génétique Médicale et Chromosomique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1002/pd.2350DOI Listing
November 2009

Prader-Willi syndrome: is there a recognizable fetal phenotype?

Prenat Diagn 2008 Sep;28(9):796-9

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.

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http://dx.doi.org/10.1002/pd.1973DOI Listing
September 2008

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Eur J Hum Genet 2002 Jan;10(1):72-6

Laboratoire de Génétique Moléculaire, 34093 Montpellier cedex, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200762DOI Listing
January 2002