Felix de Rooij - Concepedia

Author

Felix de Rooij

Hôpital Louis-Mourier

Also Known As

F De Rooij, F de Rooij, F. de Rooij, Felix Rooij, Felix de Rooij

Publications

443

Citations

H-Index

Concepts

All Affiliations

Hôpital Louis-Mourier Laboratoire de Génétique Cellulaire Laboratoire de Microbiologie et Génétique Moléculaires Deventer Ziekenhuis

About

Felix de Rooij is an author at Hôpital Louis-Mourier specializing in genetics, porphyrias, and medicine.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	162
2	Biology	3	3	103
3	Natural Sciences	1	1	31
4	Metabolism	1	1	31
5	Microbiology	1	1	26

Felix de Rooij

Publications

443

Citations

H-Index

Page 1

	Year	Citations
A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria Bernard Grandchamp, C. Picat, Felix de Rooij, Nucleic Acids Research	1989	118
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria Xuefan Gu, Felix de Rooij, J. S. Lee, Human Genetics GeneticsPathogenesisPoint MutationPathologyHigh Prevalence	1993	59
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP) Sarah Ducamp, Xiaoye Schneider‐Yin, Felix de Rooij, Human Molecular Genetics	2012	53
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis Xuefan Gu, Felix de Rooij, Gardi Voortman, Human Genetics BiologyEleven MutationsMolecular Diagnostic TechniquesGradient Gel ElectrophoresisGenetics	1994	46
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease. Marie Hélène Delfau, C. Picat, Felix de Rooij, PubMed	1991	46
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria. Xuemao Gu, Felix de Rooij, Gardi Voortman, PubMed	1992	37
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria Hubert de Verneuil, Francine Bourgeois, Felix de Rooij, Human Genetics BiologyNew MutationNatural SciencesGeneticsMolecular Genetics	1992	31
Denaturing Gradient Gel Electrophoresis for Rapid Detection of Latent Carriers of a Subtype of Acute Intermittent Porphyria with Normal Erythrocyte Porphobilinogen Deaminase Activity F. Bourgeois, Xuefan Gu, Jean‐Charles Deybach, Clinical Chemistry	1992	27
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria Xuefan Gu, Felix de Rooij, Ellen de Baar, Human Molecular Genetics GeneticsPathologyPorphobilinogen Deaminase GeneMolecular GeneticsJournal Article Two	1993	26

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