Publications by authors named "Michel Goossens"

74Publications

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

Eur J Med Genet 2015 Nov 16;58(11):591-6. Epub 2015 Sep 16.

Service d'Histologie-Embryologie-Cytogénétique, Hôpitaux Universitaires Paris-Sud, Site Antoine Béclère, APHP, Clamart, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.006DOI Listing
November 2015

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Eur J Med Genet 2015 Sep 8;58(9):497-501. Epub 2015 Jul 8.

AP-HP, Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France; AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.001DOI Listing
September 2015

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.

Mol Cytogenet 2015 1;8. Epub 2015 Feb 1.

Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.

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http://dx.doi.org/10.1186/s13039-015-0107-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322561PMC
February 2015

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Hum Mol Genet 2014 Sep 8;23(17):4479-90. Epub 2014 Apr 8.

Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Inserm U1078, Université de Brest, SFR SnInBioS, CHRU de Brest, Etablissement Français du Sang - Bretagne, Brest, France CHRU de Brest, Inserm CIC0502, Brest, France

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http://dx.doi.org/10.1093/hmg/ddu160DOI Listing
September 2014

Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.

Eur J Med Genet 2012 Dec 24;55(12):737-42. Epub 2012 Sep 24.

Université Paris-Sud, Service d'Histologie Embryologie et Cytogénétique, APHP, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141 Clamart, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.09.002DOI Listing
December 2012

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Hum Mutat 2011 Dec 19;32(12):1436-49. Epub 2011 Sep 19.

INSERM U955, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21583DOI Listing
December 2011

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

Hum Genet 2011 Apr 24;129(4):387-96. Epub 2010 Dec 24.

Service de Biochimie-Génétique, APHP, Groupe Hospitalier Henri Mondor-Albert Chenevier, UF de Génétique, Créteil, 94010, France.

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http://dx.doi.org/10.1007/s00439-010-0933-1DOI Listing
April 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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http://dx.doi.org/10.1038/ejhg.2010.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987450PMC
October 2010

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Eur J Hum Genet 2010 Aug 28;18(8):882-8. Epub 2010 Apr 28.

AP-HP, Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, Clamart Cedex, France.

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http://dx.doi.org/10.1038/ejhg.2010.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987392PMC
August 2010

Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.

Dev Biol 2010 May 4;341(2):416-28. Epub 2010 Mar 4.

INSERM U955, IMRB, Equipe 11, Creteil, F-94010, France.

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http://dx.doi.org/10.1016/j.ydbio.2010.02.036DOI Listing
May 2010

Review and update of mutations causing Waardenburg syndrome.

Hum Mutat 2010 Apr;31(4):391-406

INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21211DOI Listing
April 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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http://dx.doi.org/10.1373/clinchem.2008.103259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710781PMC
September 2008

CSN5 binds to misfolded CFTR and promotes its degradation.

Biochim Biophys Acta 2008 Jun 26;1783(6):1189-99. Epub 2008 Jan 26.

INSERM U841, Département de Génétique, Equipe 11, Hôpital Henri Mondor, 51 avenue du Maréchal de Lattre de Tassigny, Créteil, F-94010, France.

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http://dx.doi.org/10.1016/j.bbamcr.2008.01.010DOI Listing
June 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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http://dx.doi.org/10.1016/j.jcf.2007.12.006DOI Listing
September 2008

Mowat-Wilson syndrome in a Moroccan consanguineous family.

Indian J Hum Genet 2007 Sep;13(3):122-4

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, Rabat, Morocco.

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http://www.ijhg.com/text.asp?2007/13/3/122/38988
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http://dx.doi.org/10.4103/0971-6866.38988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168139PMC
September 2007

Regenerating optic axons restore topography after incomplete optic nerve injury.

J Comp Neurol 2007 Nov;505(1):46-57

School of Animal Biology, University of Western Australia, Crawley, 6009, Australia.

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http://dx.doi.org/10.1002/cne.21477DOI Listing
November 2007

Surface plasmon resonance imaging as a multidimensional surface characterization instrument--application to biochip genotyping.

Anal Chim Acta 2006 Jul 10;573-574:333-40. Epub 2006 Mar 10.

LCFIO, Centre National de la Recherche Scientifique, CNRS UMR 8501, Université d'Orsay Paris-Sud-11, Bât. 503, 91403 Orsay cedex, France.

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http://dx.doi.org/10.1016/j.aca.2006.03.003DOI Listing
July 2006

Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.

J Pediatr 2007 Apr;150(4):443-5

Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1016/j.jpeds.2007.01.039DOI Listing
April 2007

The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease.

Ann Rheum Dis 2007 Aug 18;66(8):1113-5. Epub 2007 Jan 18.

Service de Rhumatologie, Hôpital Bichat Claude Bernard, 46 rue Henri Huchard, Paris 75018, France.

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http://dx.doi.org/10.1136/ard.2006.060764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1954687PMC
August 2007

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Hum Mutat 2007 Apr;28(4):313-21

INSERM, U654, Université Paris 12, IFR10-IM3, AP-HP, Groupe Hospitalier Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.20452
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http://dx.doi.org/10.1002/humu.20452DOI Listing
April 2007

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Br J Haematol 2006 Jun;133(6):683-9

Laboratoire de Biochimie et de Génétique, AP-HP, Hôpital Henri-Mondor, Creteil, France.

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http://dx.doi.org/10.1111/j.1365-2141.2006.06076.xDOI Listing
June 2006

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

Dev Biol 2006 Jul 3;295(1):232-49. Epub 2006 Apr 3.

INSERM, U654, Bases moléculaires et cellulaires des maladies génétiques, Hôpital Henri Mondor, Creteil, F-94000, France; Université Paris 12, Faculté de Médecine, IFR10, Créteil, F-94000, France.

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http://dx.doi.org/10.1016/j.ydbio.2006.03.031DOI Listing
July 2006

DNA immobilisation procedures for surface plasmon resonance imaging (SPRI) based microarray systems.

Biosens Bioelectron 2007 Jan 18;22(6):803-9. Epub 2006 Apr 18.

Laboratoire Charles Fabry de l'Institut d'Optique, Centre National de la Recherche Scientifique CNRS UMR 8501, Bât 503, Université Paris Sud-XI, 91403 Orsay, France.

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http://dx.doi.org/10.1016/j.bios.2006.02.022DOI Listing
January 2007

Sumoylation of the SOX10 transcription factor regulates its transcriptional activity.

FEBS Lett 2006 Mar 17;580(6):1635-41. Epub 2006 Feb 17.

INSERM U654, Bases Moléculaires et Cellulaires des Maladies Génétiques, France.

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http://dx.doi.org/10.1016/j.febslet.2006.02.011DOI Listing
March 2006

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Am J Med Genet A 2005 Sep;137A(3):302-4

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30896DOI Listing
September 2005

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

Hum Mutat 2005 Apr;25(4):360-71

Institut National de la Santé et de la Recherche Médicale (INSERM) U. 468, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.20156DOI Listing
April 2005

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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http://link.springer.com/10.1007/s00439-004-1246-z
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http://dx.doi.org/10.1007/s00439-004-1246-zDOI Listing
May 2005

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Haematologica 2005 Jan;90(1):25-30

Laboratoire de Biochimie Génétique, AP-HP, et INSERM U468, Hôpital Henri Mondor 94010 Créteil, France.

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January 2005

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

Clin Chem 2004 Nov;50(11):1974-8

Service de Biochimie et de Génétique Moléculaire and INSERM U468, Hôpital Henri-Mondor, 94010 Créteil, France.

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http://dx.doi.org/10.1373/clinchem.2004.036053DOI Listing
November 2004

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.

Ann Neurol 2004 Nov;56(5):730-4

Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London, UK.

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http://doi.wiley.com/10.1002/ana.20267
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http://dx.doi.org/10.1002/ana.20267DOI Listing
November 2004

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.

Hum Mutat 2004 Jun;23(6):621-8

Service de Biochimie et Génétique Moléculaire, and Institut National de la Santé et de la Recherche Médicale, INSERM U468, Hôpital Henri Mondor, Créteil, France.

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http://doi.wiley.com/10.1002/humu.20045
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http://dx.doi.org/10.1002/humu.20045DOI Listing
June 2004

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

Clin Chem 2003 Nov;49(11):1942-5

Service de Biochimie et de Génétique Moléculaire, Hôpital Henri Mondor, AP-HP, 94010 Créteil, France.

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http://dx.doi.org/10.1373/clinchem.2003.021212DOI Listing
November 2003

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.

Mol Diagn 2003 ;7(1):45-8

Laboratoire de Génétique Moléculaire, CHU Henri Mondor AP-HP, Créteil, France.

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http://dx.doi.org/10.1007/BF03260020DOI Listing
September 2005

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

Hum Genet 2002 Aug 6;111(2):198-206. Epub 2002 Jul 6.

INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France.

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http://dx.doi.org/10.1007/s00439-002-0765-8DOI Listing
August 2002

HFE genotyping by amplification refractory mutation system-denaturing HPLC.

Clin Chem 2002 May;48(5):769-72

Laboratory of Biochemistry and Human Molecular Genetics and INSERM U 468, Hôpital Henri-Mondor, AP-HP, 51 Av du Maréchal de Lattre de Tassigny, 94010 Créteil, France.

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May 2002