Mylene Valduga

Mylene Valduga

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Mylene Valduga

Mylene Valduga

Publications by authors named "Mylene Valduga"

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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.

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

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

Ann Biol Clin (Paris) 2014 May-Jun;72(3):371-7

Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ab
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http://dx.doi.org/10.1684/abc.2014.0954DOI Listing
May 2016

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.

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

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

J Hum Genet 2015 May 26;60(5):267-71. Epub 2015 Feb 26.

Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire de Nancy, INSERM U954, Université de Lorraine, Rue du Morvan, Vandoeuvre-les-Nancy, France.

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http://dx.doi.org/10.1038/jhg.2015.17DOI Listing
May 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.

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

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Am J Med Genet A 2013 Oct 5;161A(10):2594-9. Epub 2013 Aug 5.

Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France; Service de Médecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.36097DOI Listing
October 2013

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.

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