Publications by authors named "Emmanuelle Girodon"

61Publications

Clinical interpretation of PRSS1 variants in patients with pancreatitis.

Clin Res Hepatol Gastroenterol 2021 Jan 27;45(1):101497. Epub 2020 Nov 27.

Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique, Centre Université de Paris, France. Electronic address:

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January 2021

Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.

Andrologia 2020 Dec 28;52(11):e13868. Epub 2020 Oct 28.

Assistance Publique - Hôpitaux de Paris, Site Cochin, Laboratoire de Génétique et Biologie Moléculaires, Groupe Universitaire Paris Centre, Paris, France.

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December 2020

The Role of Extended Gene Sequencing in Newborn Screening for Cystic Fibrosis.

Int J Neonatal Screen 2020 Mar 21;6(1):23. Epub 2020 Mar 21.

Molecular Genetics Laboratory, Cochin Hospital, APHP. Centre, University of Paris, 75014 Paris, France;

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March 2020

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Pancreatology 2020 Oct 7;20(7):1354-1367. Epub 2020 Sep 7.

Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, APHP. Centre-Université de Paris, France. Electronic address:

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October 2020

Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes (Basel) 2020 06 4;11(6). Epub 2020 Jun 4.

Molecular Genetics Laboratory, Cochin Hospital, APHP.Centre-Université de Paris, 75014 Paris, France.

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June 2020

Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.

J Cyst Fibros 2020 11 3;19(6):969-974. Epub 2020 Jun 3.

Biomedical Quality Assurance Research Unit, Department of Public Health and Primary Care, University of Leuven, Leuven, Belgium; Department of Medical Diagnostics, University Hospitals Leuven, Leuven, Belgium. Electronic address:

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November 2020

Pitfalls in the interpretation of CFTR variants in the context of incidental findings.

Hum Mutat 2019 12 26;40(12):2239-2246. Epub 2019 Aug 26.

Laboratoire de Génétique et Biologie Moléculaires, AP-HP, Hôpital Cochin, HUPC, Paris, France.

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December 2019

Predictive factors for lumacaftor/ivacaftor clinical response.

J Cyst Fibros 2019 05 28;18(3):368-374. Epub 2018 Dec 28.

Centre Maladie Rare Mucoviscidose, Hôpital Necker-Enfants Malades, Assistance-Publique Hôpitaux de Paris, 149 rue de sèvres, 75015 Paris, France; Institut Necker-Enfants Malades, INSERM U1151, 149 rue de Sèvres, 75015 Paris, France; Université Paris Sorbonne, 75005 Paris, France. Electronic address:

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May 2019

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis.

Fetal Diagn Ther 2019 19;45(5):312-316. Epub 2018 Jun 19.

Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France.

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December 2019

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Clin Respir J 2016 Nov 15;10(6):777-783. Epub 2015 Apr 15.

AP-HP, Laboratoire de Biochimie et Génétique Moléculaire, Groupe Universitaire Paris Centre, Paris, France.

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November 2016

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

Pancreatology 2016 Jul-Aug;16(4):515-22. Epub 2016 Apr 5.

AP-HP, Laboratoire de Génétique et Biologie Moléculaires, HU Paris Centre, Site Cochin, France; Université Paris Descartes Paris, Institut Cochin, INSERM U1016, Paris, France. Electronic address:

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March 2017

The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.

J Cyst Fibros 2015 May 28;14(3):305-9. Epub 2014 Nov 28.

AP-HP, Laboratoire de Biochimie et Génétique Moléculaire, GH Cochin-Broca-Hôtel Dieu, Paris, France; Université Paris Descartes Paris, Institut Cochin, INSERM U1016, Paris, France. Electronic address:

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May 2015

DNA comparison between operative and biopsy specimens to investigate stage pT0 after radical prostatectomy.

World J Urol 2014 Aug 27;32(4):899-904. Epub 2014 Mar 27.

Department of Urology, Paris Sud University Hospital of Bicetre, 94270, Le Kremlin Bicetre, France,

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August 2014

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

J Hum Genet 2014 Apr 23;59(4):206-10. Epub 2014 Jan 23.

1] Laboratoire de Biochimie et Génétique Moléculaire, GH Cochin-Broca-Hôtel Dieu, AP-HP, Paris, France [2] Institut Cochin, INSERM U1016, Université Paris Descartes Paris, Paris, France.

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April 2014

A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl.

BMJ Case Rep 2012 Nov 9;2012. Epub 2012 Nov 9.

Department of Pediatric Pulmunology, AP-HP Hôpital Armand Trousseau, Paris, France - INSERM UMR S-938.

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November 2012

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data.

Eur J Hum Genet 2012 Dec 20;20(12):1209-15. Epub 2012 Jun 20.

Department of Public Health, Biomedical Quality Assurance Research Unit, Katholieke Universiteit Leuven, Leuven, Belgium.

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December 2012

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

Hum Mutat 2012 Nov 2;33(11):1557-65. Epub 2012 Jul 2.

Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique Formation de Recherche en Evolution FRE 3511, Université de Poitiers, Poitiers, France.

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November 2012

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Hum Mutat 2011 Nov 17;32(11):1197-203. Epub 2011 Aug 17.

Center for Human Genetics, Biomedical Quality Assurance Research Unit, Katholieke Universiteit Leuven, Belgium.

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November 2011

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Eur J Hum Genet 2010 Oct 26;18(10):1166-9. Epub 2010 May 26.

Service de Biochimie-Génétique et Inserm U955 Equipe 11, Groupe Hospitalier Henri Mondor-Albert Chenevier, APHP, Créteil, France.

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October 2010

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.

Clin Chem 2008 Sep;54(9):1564-7

Groupe hospitalier Henri Mondor-Albert Chenevier, AP-HP, Laboratoire de Génétique Moléculaire et Unité Inserm U841, Créteil, France.

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September 2008

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

J Cyst Fibros 2008 Sep 1;7(5):440-3. Epub 2008 Feb 1.

Service de Biochimie et Génétique, AP-HP et INSERM U841 équipe 11, groupe hospitalier Henri Mondor-Albert Chenevier, 94010 Créteil, France.

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September 2008

[3120+1kbdel8.6kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.

J Ayub Med Coll Abbottabad 2006 Jul-Sep;18(3):69-71

Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.

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April 2007

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Hum Genet 2005 May 3;116(6):454-60. Epub 2005 Mar 3.

Service de Biochimie et Génétique, Hôpital Henri Mondor, Institut National de la Santé et de la Recherche Médicale U.468, AP-HP, 94010, Créteil, France.

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May 2005

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

Hum Reprod 2004 Nov 27;19(11):2502-8. Epub 2004 Aug 27.

Department of Genetics, Faculty of Medicine, Laboratory of Cell Biology, ICBAS, University of Porto, Centre for Reproductive Genetics Alberto Barros, Porto, Portugal.

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November 2004