Juliette Piard

Juliette Piard

UNVERIFIED PROFILE

Are you Juliette Piard?   Register this Author

Register author
Juliette Piard

Juliette Piard

Publications by authors named "Juliette Piard"

Are you Juliette Piard?   Register this Author

27Publications

959Reads

36Profile Views

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Eur J Med Genet 2019 Sep 18;62(9):103539. Epub 2018 Sep 18.

Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183005
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.09.006DOI Listing
September 2019

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Am J Med Genet A 2016 10 5;170(10):2662-70. Epub 2016 Jun 5.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37778DOI Listing
October 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
Web Search
http://www.ojrd.com/content/10/1/135
Publisher Site
http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Am J Med Genet A 2015 Aug 13;167A(8):1897-901. Epub 2015 Apr 13.

Centre de génétique humaine, Université de Franche-Comté, Besançon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654244PMC
August 2015

DYRK1A mutations in two unrelated patients.

Eur J Med Genet 2015 Mar 30;58(3):168-74. Epub 2015 Jan 30.

Centre de Génétique Humaine, CHU Besançon, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.12.014DOI Listing
March 2015

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Am J Med Genet A 2014 Oct 26;164A(10):2618-22. Epub 2014 Jun 26.

Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36662
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36662DOI Listing
October 2014

Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia.

Eur J Med Genet 2012 Dec 24;55(12):719-22. Epub 2012 Aug 24.

Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.08.007DOI Listing
December 2012

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Am J Med Genet A 2012 Jun 23;158A(6):1406-10. Epub 2012 Apr 23.

Centre de Référence Syndromes Malformatifs et Anomalies du Développement, Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy et PRES de l'Université de Lorraine, UHP, Nancy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35329DOI Listing
June 2012

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.

Am J Med Genet A 2011 Dec 7;155A(12):3170-3. Epub 2011 Nov 7.

Unité Fonctionnelle de Génétique Médicale AP-HP, Département de Génétique et Cytogénétique, Centre de Référence «Déficiences Intellectuelles de Causes Rares», Groupe Hospitalier CRicm, UMR-S975 (Ex-U679), Pitié-Salpêtrière, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34334DOI Listing
December 2011

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Am J Med Genet A 2010 Aug;152A(8):1933-41

Service de Médecine Infantile III et Génétique Clinique, Centre de référence Anomalies du développement et Syndromes malformatifs, Centre Hospitalier Universitaire de Nancy, Nancy-Université Henri Poincaré, Vandoeuvre les Nancy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33521DOI Listing
August 2010