Nicolas Chassaing

Nicolas Chassaing

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Nicolas Chassaing

Nicolas Chassaing

Publications by authors named "Nicolas Chassaing"

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genetic variations and myeloma cast nephropathy.

Clin Kidney J 2019 Oct 15;12(5):639-640. Epub 2019 Jun 15.

Département de Néphrologie et Transplantation d'organes, Centre de référence des maladies rénales rares, Hôpital Rangueil, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.

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http://dx.doi.org/10.1093/ckj/sfz071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768300PMC
October 2019

Editorial to the special issue on "Molecular Genetics of Developmental Eye Disorders".

Hum Genet 2019 Sep;138(8-9):793

INSERM1056, Université de Toulouse, Centre de Référence des Anomalies Rares en Génétique Ophtalmologique, Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.

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http://dx.doi.org/10.1007/s00439-019-02054-0DOI Listing
September 2019

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

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Ophthalmic Genet 2018 06 6;39(3):314-320. Epub 2018 Feb 6.

a UDEAR , Université de Toulouse, UMRS 1056 INSERM-Université Paul Sabatier , Toulouse , France.

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http://dx.doi.org/10.1080/13816810.2018.1430243DOI Listing
June 2018

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.

Acta Derm Venereol 2017 Jul;97(7):853-854

Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, 31059 Toulouse cedex 9, France.

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http://dx.doi.org/10.2340/00015555-2648DOI Listing
July 2017

Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.

Acta Derm Venereol 2017 03;97(3):387-388

Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, FR-31059 Toulouse cedex 9, France.

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http://dx.doi.org/10.2340/00015555-2542DOI Listing
March 2017

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

Birth Defects Res 2017 Mar;109(4):251-253

Obstetrics, Gynecology, and Gynecological Oncology, Medical University of Lodz, Lodz, Poland.

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http://dx.doi.org/10.1002/bdra.23465DOI Listing
March 2017

Genetic Advances in Microphthalmia.

J Pediatr Genet 2016 Dec 16;5(4):184-188. Epub 2016 Sep 16.

Department of Medical Genetics, Purpan University Hospital, Toulouse, France; U1056 INSERM-FRE 3742 CNRS-Université Toulouse III, Toulouse, France.

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http://dx.doi.org/10.1055/s-0036-1592350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123893PMC
December 2016

Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation.

Transplantation 2016 Sep;100(9):1970-8

1 Département de Néphrologie et Transplantation d'organes, Centre de reference des maladies rénales rares, Hôpital Rangueil, CHU, Toulouse, France. 2 INSERM U1048 (I2MC, équipe 12), Hôpital Rangueil, Toulouse, France. 3 Service de Néphrologie, Cliniques Universitaires Saint-Luc, Louvain, Belgique. 4 Service de Néphrologie, Médecine interne, Hôpital des Enfants, CHU, Toulouse, France. 5 Service de Néphrologie-Transplantation, Hôpital Huriez, CHRU, Lille, France. 6 Service de Néphrologie-Transplantation, Hôpital Lapeyronie, CHU, Montpellier, France. 7 Service de Néphrologie-Transplantation Pédiatrique, CHU, Hôtel-Dieu, Nantes, France. 8 Service de Néphrologie-Transplantation, Hôpital Pellegrin, CHU, Bordeaux, France. 9 University of Zürich, Institute of Physiology, Zürich Centre for Integrative Human Physiology (ZIHP), Zürich, Switzerland. 10 Service de Diabétologie, Hôpital Rangueil, CHU Toulouse, France. 11 Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/TP.0000000000000993DOI Listing
September 2016

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Am J Med Genet A 2016 07 22;170(7):1895-8. Epub 2016 Apr 22.

CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.

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http://dx.doi.org/10.1002/ajmg.a.37667DOI Listing
July 2016

Incomplete penetrance of biallelic ALDH1A3 mutations.

Eur J Med Genet 2016 Apr 10;59(4):215-8. Epub 2016 Feb 10.

Genetics Department, Purpan University Hospital, France; UDEAR, UMR 1056 Inserm - Université de Toulouse, FRE 3742 CNRS, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.02.004DOI Listing
April 2016

The authors reply.

Kidney Int 2015 Jun;87(6):1259

Service de Génétique médicale et UPS III EA4555, Hôpital Purpan, CHU de Toulouse, Toulouse, France.

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http://dx.doi.org/10.1038/ki.2015.48DOI Listing
June 2015

The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

Kidney Int 2014 Nov 4;86(5):1007-15. Epub 2014 Jun 4.

1] Département de Néphrologie et Transplantation d'organes, Hôpital Rangueil, CHU Toulouse, France [2] Centre de référence des maladies rénales rares, Toulouse, France [3] Institut National de la Santé et de la Recherche Médicale (INSERM), U1048, Institute of Cardiovascular and Metabolic Disease, Toulouse, France [4] Université Toulouse III Paul-Sabatier, Toulouse, France.

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http://dx.doi.org/10.1038/ki.2014.202DOI Listing
November 2014

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

JAMA Ophthalmol 2014 Oct;132(10):1215-20

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland4Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.1731DOI Listing
October 2014

[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].

Nephrol Ther 2013 Nov 9;9(6):393-7. Epub 2013 Oct 9.

Service de néphrologie et immunologie clinique, CHU de Rangueil, 31059 Toulouse cedex 09, France; Inserm U1048, (I2MR, équipe 12), CHU de Rangueil, 31059 Toulouse cedex 09, France; Département de néphrologie et transplantation d'organes, centre de référence des maladies rénales rares du Sud-Ouest, CHU de Rangueil, 1, avenue Jean-Poulhès, TSA 50032, 31059 Toulouse cedex 9, France. Electronic address:

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http://dx.doi.org/10.1016/j.nephro.2013.05.004DOI Listing
November 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?

Eur J Med Genet 2012 Dec 15;55(12):688-9. Epub 2012 Jul 15.

Nephrology and Transplantation Department, University Hospital of Toulouse, Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.003DOI Listing
December 2012

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

Eur J Med Genet 2011 Jul-Aug;54(4):e437-40. Epub 2011 Apr 19.

Nephrology and Immunology Department, University Hospital of Rangueil, Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.03.010DOI Listing
October 2011

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

Kidney Int 2011 Oct 20;80(7):768-76. Epub 2011 Jul 20.

Service de Néphrologie et Immunologie clinique, Hôpital Rangueil, CHU Toulouse, France.

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http://dx.doi.org/10.1038/ki.2011.225DOI Listing
October 2011

Acquired pseudoxanthoma elasticum presenting after liver transplantation.

J Am Acad Dermatol 2011 May 12;64(5):873-8. Epub 2011 Mar 12.

Department of Dermatology, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA.

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http://dx.doi.org/10.1016/j.jaad.2010.03.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078966PMC
May 2011

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

Mol Vis 2010 Dec 18;16:2847-9. Epub 2010 Dec 18.

INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012651PMC
December 2010

Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.

Nephrol Dial Transplant 2009 Apr 9;24(4):1341-5. Epub 2009 Feb 9.

Service de Néphrologie et Immunologie clinique, Hôpital de Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9, France.

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http://dx.doi.org/10.1093/ndt/gfp014DOI Listing
April 2009

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.

Hum Mutat 2007 Oct;28(10):1046

INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F-31300 France.

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http://doi.wiley.com/10.1002/humu.9509
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http://dx.doi.org/10.1002/humu.9509DOI Listing
October 2007

Donnai-Barrow syndrome: four additional patients.

Am J Med Genet A 2003 Sep;121A(3):258-62

Service de génétique médicale, Hôpital Purpan, Toulouse, France.

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http://dx.doi.org/10.1002/ajmg.a.20266DOI Listing
September 2003