Patrick Calvas

Patrick Calvas

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Patrick Calvas

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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

Through the looking glass: eye anomalies in the age of molecular science.

Hum Genet 2019 Sep 7;138(8-9):795-798. Epub 2019 Aug 7.

Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, OX3 0BP, UK.

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http://dx.doi.org/10.1007/s00439-019-02056-yDOI Listing
September 2019

Extreme myopia in a family with a missense PAX6 mutation: extended phenotype.

Ophthalmic Genet 2019 Feb 28;40(1):64-65. Epub 2018 Dec 28.

a Exploration of Vision and Neuro-ophthalmology Department , Lille University Hospital , Lille , France.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1558260DOI Listing
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

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

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

Delayed-onset Friedreich's ataxia revisited.

Mov Disord 2016 Jan 21;31(1):62-9. Epub 2015 Sep 21.

Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; and Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/mds.26382DOI Listing
January 2016

Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.

Clin Case Rep 2015 Sep 20;3(9):757-61. Epub 2015 Aug 20.

Service de Génétique Médical, Centre Hospitalier Universitaire Purpan Toulouse, France.

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http://dx.doi.org/10.1002/ccr3.313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574793PMC
September 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 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

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Eur J Med Genet 2014 Jan 23;57(1):47-53. Epub 2013 Nov 23.

Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130025
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http://dx.doi.org/10.1016/j.ejmg.2013.11.002DOI Listing
January 2014

Exonic deletions of FXN and early-onset Friedreich ataxia.

Arch Neurol 2012 Jul;69(7):912-6

Université Pierre et Marie Curie, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale, France.

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http://dx.doi.org/10.1001/archneurol.2011.834DOI Listing
July 2012

Genetic factors for choroidal neovascularization associated with high myopia.

Invest Ophthalmol Vis Sci 2012 Jul 27;53(8):5004-9. Epub 2012 Jul 27.

Faculté de Médecine Henri Mondor, Department of Ophthalmology, APHP-Assistance Publique Hôpitaux Paris, Groupe Hospitalier Albert Chenevier-Henri Mondor, University Paris Est, Creteil, France.

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http://dx.doi.org/10.1167/iovs.12-9538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410690PMC
July 2012

Myopia and iris colour: a possible connection?

Med Hypotheses 2012 Jun 31;78(6):778-80. Epub 2012 Mar 31.

Centre for Public Health, Institute of Clinical Sciences, Block B, Queen's University Belfast, Belfast, UK.

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http://dx.doi.org/10.1016/j.mehy.2012.03.005DOI Listing
June 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

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Hum Mutat 2011 Oct 8;32(10):1144-52. Epub 2011 Sep 8.

Ulverscroft Vision Research Group, UCL Institute of Child Health, London, United Kingdom.

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http://doi.wiley.com/10.1002/humu.21550
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http://dx.doi.org/10.1002/humu.21550DOI Listing
October 2011

Axial length of myopia: a review of current research.

Ophthalmologica 2011 16;225(3):127-34. Epub 2010 Oct 16.

Physiopathology Centre, INSERM U563, Toulouse, France.

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https://www.karger.com/Article/FullText/317072
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http://dx.doi.org/10.1159/000317072DOI Listing
June 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

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.

Invest Ophthalmol Vis Sci 2010 Sep 30;51(9):4476-9. Epub 2010 Apr 30.

Center for Human GeneticsDepartment of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1167/iovs.09-4912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2941166PMC
September 2010

Axial length: an underestimated endophenotype of myopia.

Med Hypotheses 2010 Feb 4;74(2):252-3. Epub 2009 Nov 4.

Centre of Physiopathology, INSERM U563, Purpan Hospital, Toulouse, France.

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http://dx.doi.org/10.1016/j.mehy.2009.09.025DOI Listing
February 2010

Quality of DNA extracted from mouthwashes.

PLoS One 2009 Jul 7;4(7):e6165. Epub 2009 Jul 7.

School of Optometry and Vision Sciences, Cardiff University, Wales, UK.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0006165PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701599PMC
July 2009

Linkage analysis of high myopia susceptibility locus in 26 families.

Mol Vis 2008 30;14:2566-74. Epub 2008 Dec 30.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613077PMC
April 2009

[Development and genetic anomalies of the eye].

Authors:
Patrick Calvas

Bull Acad Natl Med 2009 Jan;193(1):45-57; discussion 57-9

Service de Génétique Médicale, Université de Toulouse, INSERM U563, CPTP, CHU de Toulouse, Hôpital Purpan, TSA 40031, 31059 Toulouse.

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January 2009

Heritability of refractive value and ocular biometrics.

Exp Eye Res 2008 Feb 5;86(2):290-5. Epub 2007 Nov 5.

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

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http://dx.doi.org/10.1016/j.exer.2007.11.001DOI Listing
February 2008

V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl.

Pediatr Dermatol 2007 Sep-Oct;24(5):551-4

Department of Dermatology, Hospital del Mar, IMAS, Barcelona, Spain.

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http://doi.wiley.com/10.1111/j.1525-1470.2007.00516.x
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http://dx.doi.org/10.1111/j.1525-1470.2007.00516.xDOI Listing
December 2007

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

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Ann Neurol 2007 Aug;62(2):177-84

Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, Bordeaux, France.

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http://doi.wiley.com/10.1002/ana.21191
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http://dx.doi.org/10.1002/ana.21191DOI Listing
August 2007

DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.

J Invest Dermatol 2007 Mar 2;127(3):568-73. Epub 2006 Nov 2.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1533304
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http://dx.doi.org/10.1038/sj.jid.5700617DOI Listing
March 2007

Corneal ectasia after photorefractive keratectomy for low myopia.

Ophthalmology 2006 May;113(5):742-6

Ophthalmology Department, Purpan Hospital, Toulouse, France.

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http://dx.doi.org/10.1016/j.ophtha.2005.11.023DOI Listing
May 2006

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

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

Eur J Hum Genet 2003 Feb;11(2):163-9

Service de Génétique Médicale, Hôpital Purpan, Pavillon Lefebvre, 1, place Baylac, 31059 Toulouse cedex, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200940DOI Listing
February 2003

Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience.

J Androl 2002 Jan-Feb;23(1):18-22; discussion 44-5

Service de Génétique Médicale, Hĵpital Purpan, France.

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May 2002