H.J.M. Smeets - Concepedia

Author

H.J.M. Smeets

Also Known As

B Smeets, B. J. M. Smeets, B. Smeets, BERT SMEETS, Bert J. Smeets, Bert Smeets, Dominique Smeets, H J M Smeets, H J Smeets, H SMEETS

108

Publications

3.7K

Citations

H-Index

108

Concepts

All Affiliations

Maastricht University Radboud University Nijmegen Maastricht University Medical Centre Amsterdam UMC Location University of Amsterdam Luigi Sacco Hospital

About

H.J.M. Smeets is an author at Maastricht University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	18	1.8K
2	Natural Sciences	3	3	202
3	Engineering	1	1	39
4	Health Sciences	1	1	20
5	Social Sciences	1	1	26

H.J.M. Smeets

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome Toshio Mochizuki, Henny H. Lemmink, Mariko Mariyama, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsCollagen GenesPathology	1994	510
Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis Karin Buiting, Bärbel Dittrich, Stephanie Groß, The American Journal of Human Genetics Developmental AnomalyGenetic DisorderGeneticsSporadic Imprinting DefectsGynecology	1998	215
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. Henny H. Lemmink, W Nillesen, Toshio Mochizuki, Journal of Clinical Investigation Persistent Microscopic HematuriaGeneticsRenal PathologyGenetic EpidemiologyPathology	1996	202
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients Claudia Braida, Rhoda Stefanatos, Berit Adam, Human Molecular Genetics	2010	156
A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome I.F.M. de Coo, W.O. Renier, W. Ruitenbeek, Annals of Neurology Mitochondrial Respiratory ChainNeurodegenerative DiseasesMendelian DisorderMitochondrial FunctionGenetic Disorder	1999	129
A 4-base pair deletion in the mitochondrial cytochromeb gene associated with parkinsonism/MELAS overlap syndrome I.F.M. de Coo, W.O. Renier, W. Ruitenbeek, Annals of Neurology MitophagyMitochondrial Cytochromeb GeneGeneticsGenetic EpidemiologyMolecular Biology	1999	128
Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease. Janna J. Jansen, J. A. Maassen, Fokko J. van der Woude, Journal of the American Society of Nephrology GeneticsRenal PathologyPathologyMolecular GeneticsDisease Gene Identification	1997	118
Preadipocytes of type 2 diabetes subjects display an intrinsic gene expression profile of decreased differentiation capacity Florence H. J. van Tienen, Carla Kallen, Patrick Lindsey, International Journal of Obesity Metabolic SyndromeGenetic DeterminantDevelopmental BiologyDiabetesType 2	2011	92
Myelin-Derived Lipids Modulate Macrophage Activity by Liver X Receptor Activation Jeroen F. J. Bogie, Silke Timmermans, Vân Anh Huynh‐Thu, PLoS ONE Inflammatory Lung DiseaseLung InflammationImmunologyImmune RegulationInnate Immunity	2012	78
Hypertrophic remodelling in cardiac regulatory myosin light chain (<i>MYL2</i>) founder mutation carriers Godelieve R.F. Claes, Florence H. J. van Tienen, Patrick Lindsey, European Heart Journal	2015	76

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