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Philippe Loget Selected Research

Multicystic Dysplastic Kidney (Multicystic Kidney)

1/2014TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.
7/2011RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.

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Philippe Loget Research Topics

Disease

2Ciliopathies
01/2018 - 05/2010
2Hereditary renal agenesis
01/2018 - 07/2011
2Microcephaly
08/2014 - 07/2014
2Multicystic Dysplastic Kidney (Multicystic Kidney)
01/2014 - 07/2011
1Neurodevelopmental Disorders
01/2022
1NGLY1 deficiency
01/2022
1Seizures (Absence Seizure)
01/2021
1Epilepsy (Aura)
01/2021
1Fetal Death
02/2018
1Imperforate Anus
01/2018
1Polydactyly (Polydactylism)
01/2018
1Preterm Premature Rupture of the Membranes
01/2017
1Meckel syndrome type 1
01/2017
1Malformations of Cortical Development
07/2014
1Hydrocephalus (Hydrocephaly)
09/2013
1Agenesis of Corpus Callosum
09/2013
1Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation
09/2013
1Renal Insufficiency (Renal Failure)
07/2013
1Perinatal Death
07/2013
1Walker-Warburg Syndrome
12/2012
1Smith-Lemli-Opitz Syndrome
02/2012
1Cobblestone Lissencephaly
02/2012
1Pathologic Constriction (Stenosis)
08/2011
1Polymicrogyria
06/2009

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
01/2017 - 05/2010
2TubulinIBA
07/2014 - 06/2009
2protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
12/2012 - 02/2012
1EnzymesIBA
01/2022
1OligosaccharidesIBA
01/2022
1Pharmaceutical PreparationsIBA
01/2021
1Antiphospholipid AntibodiesIBA
02/2018
1Monomeric GTP-Binding ProteinsIBA
01/2018
1Biological ProductsIBA
01/2017
1Transcription Factors (Transcription Factor)IBA
01/2014
1Hepatocyte Nuclear Factor 1-betaIBA
01/2014
1Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
09/2013
1Oxidoreductases (Dehydrogenase)IBA
02/2012
1Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA
07/2011

Therapy/Procedure

1Renal Replacement Therapy (Therapies, Renal Replacement)
07/2013
1Blalock-Taussig Procedure
08/2011