Paul Kuentz

Paul Kuentz

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Paul Kuentz

Paul Kuentz

Publications by authors named "Paul Kuentz"

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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

J Invest Dermatol 2020 May 11;140(5):1106-1110.e2. Epub 2019 Nov 11.

Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2019.08.455DOI Listing
May 2020

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Am J Med Genet A 2020 04 18;182(4):792-797. Epub 2020 Jan 18.

UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.61487DOI Listing
April 2020

Severe gynaecological involvement in Proteus Syndrome.

Eur J Med Genet 2019 Apr 10;62(4):270-272. Epub 2018 Aug 10.

Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.003DOI Listing
April 2019

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
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http://dx.doi.org/10.1016/j.ejmg.2017.08.011DOI Listing
November 2017

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

J Invest Dermatol 2017 07 28;137(7):1575-1578. Epub 2017 Feb 28.

Université Bourgogne Franche-Comté, EA 4271 Génétique des Anomalies du Développement, Dijon, France; Service de Pathologie, Plateau Technique de Biologie, CHU Dijon Bourgogne, France; Service de Dermatologie, CHU Dijon Bourgogne, Dijon, France; Centre de référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon Bourgogne, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.01.035DOI Listing
July 2017

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

J Invest Dermatol 2016 05 29;136(5):1060-1062. Epub 2016 Jan 29.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France; Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2016.01.015DOI Listing
May 2016

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Hum Mol Genet 2016 Feb 7;25(3):497-513. Epub 2015 Dec 7.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université Fédérale Bourgogne - Franche Comté, F-21079 Dijon, France, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est,

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http://dx.doi.org/10.1093/hmg/ddv488DOI Listing
February 2016

Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple.

Fertil Steril 2011 Jul 7;96(1):e35-8. Epub 2011 May 7.

Service de Génétique Histologie Biologie du Développement et de la Reproduction (CECOS Franche-Comté Bourgogne), Hôpital Saint-Jacques, Besançon University Regional Hospital, Besançon, France.

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http://dx.doi.org/10.1016/j.fertnstert.2011.04.030DOI Listing
July 2011