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Michel Goossens Selected Research

Hypopigmentation (Hypomelanosis)

5/2012Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
5/2010Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.
7/2006Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

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Michel Goossens Research Topics

Disease

10Hirschsprung Disease (Hirschsprung's Disease)
07/2013 - 08/2002
8Mental Retardation (Idiocy)
07/2013 - 09/2005
6Cystic Fibrosis (Mucoviscidosis)
04/2013 - 08/2002
4Epilepsy (Aura)
07/2013 - 09/2005
4Waardenburg's Syndrome (Waardenburg Syndrome)
09/2012 - 08/2002
3Hypopigmentation (Hypomelanosis)
05/2012 - 07/2006
3Deafness (Deaf Mutism)
05/2010 - 08/2002
3Heart Diseases (Heart Disease)
09/2007 - 09/2005
2Hearing Loss (Hearing Impairment)
01/2014 - 05/2012
2Microcephaly
07/2013 - 09/2005
2Hemolytic Anemia
11/2009 - 01/2005
2Facies
09/2007 - 04/2007
1Iron Overload
09/2014
1Anophthalmos (Anophthalmia)
01/2014
1Acrocallosal Syndrome
07/2013
1Hypogonadism (Hypergonadotropic Hypogonadism)
05/2013
1Olfaction Disorders (Anosmia)
05/2013
1Sensorineural Hearing Loss
09/2012
1Kallmann Syndrome (Kallmann's Syndrome)
05/2012
1Echogenic Bowel
04/2011
1Hyperventilation
11/2008
1Male Infertility (Male Sterility)
09/2008
1Polycythemia (Erythrocytosis)
07/2008
1Hemochromatosis (Bronze Diabetes)
01/2008
1Hemolysis
04/2007
1Silver-Russell Syndrome
09/2005
1Uniparental Disomy
09/2005
1Urogenital Abnormalities
09/2005
1Trisomy (Trisomies)
09/2005
1Anemia
01/2005
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
11/2004
1Familial Mediterranean Fever (Periodic Disease)
11/2004
1beta-Thalassemia (Cooley's Anemia)
08/2004
1Asthma (Bronchial Asthma)
01/2002

Drug/Important Bio-Agent (IBA)

5Mowat-Wilson syndromeIBA
07/2013 - 09/2005
5type 4 Waardenburg syndromeIBA
09/2012 - 08/2002
3Congenital bilateral aplasia of vas deferensIBA
04/2013 - 05/2007
3Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA
06/2008 - 04/2005
2Pitt-Hopkins syndromeIBA
01/2012 - 11/2008
2Transcription Factors (Transcription Factor)IBA
05/2010 - 03/2006
2Pyruvate KinaseIBA
04/2007 - 01/2005
1IronIBA
09/2014
1type 4 HemochromatosisIBA
09/2014
1metal transporting protein 1 (ferroportin)IBA
09/2014
1Growth Hormone (Somatotropin)IBA
01/2014
1Goldberg-Shprintzen megacolon syndromeIBA
06/2013
1Gonadotropin-Releasing Hormone (GnRH)FDA Link
05/2013
1Tietz syndromeIBA
05/2012
1Semaphorin-3AIBA
05/2012
1First StepIBA
04/2011
1alpha-GlobinsIBA
11/2009
1Erythropoietin Receptors (Erythropoietin Receptor)IBA
07/2008
1Transferrin Receptors (Transferrin Receptor)IBA
01/2008
1Hirschsprung disease 1IBA
12/2007
1Endothelin-3 (Endothelin 3)IBA
07/2006
1trisomy mosaic Chromosome 7IBA
09/2005
1Chloride Channels (Chloride Channel)IBA
04/2005
1Hemoglobins (Hemoglobin)IBA
01/2005
1GlobinsIBA
01/2005
1connexin 32IBA
11/2004
1autosomal dominant familial Periodic feverIBA
11/2004
1Codon (Codons)IBA
08/2004
1beta-Globins (beta Globin)IBA
08/2004
1Primary sclerosing cholangitisIBA
08/2002
1Interleukin-4 (Interleukin 4)IBA
01/2002