J. P. Fryns - Concepedia

Author

J. P. Fryns

Also Known As

J FRYNS, J Fryns, J P Fryns, J. P. FRYNS, J. P. Fryns, J.-P. Fryns, J.P. Fryns, Jean P Fryns, Jean P. Fryns, Jean Pierre Fryns

159

Publications

4.9K

Citations

H-Index

126

Concepts

All Affiliations

KU Leuven Center for Human Genetics Centre For Human Genetics Radboud University Nijmegen Universitair Ziekenhuis Leuven

About

J. P. Fryns is an author at KU Leuven specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	39	2.8K
2	Public Health	6	6	412
3	Natural Sciences	3	3	186
4	Arts	1	1	10
5	Health Sciences	1	1	12

J. P. Fryns

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy Petter Strømme, Marie Mangelsdorf, Marie Shaw, Nature Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Ortholog	2002	431
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, The American Journal of Human Genetics Eec SyndromeDevelopmental BiologyGenetic DisorderGeneticsPathology	2001	376
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation Alain Carrié, T Bienvenu, Marie Claude Vinet, Nature Genetics NeuropsychologyMolecular NeurosciencePsychiatryMedicineIl-1 Receptor Family	1999	294
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation Ramzi Zemni, Thierry Bienvenu, Marie Claude Vinet, Nature Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2000	236
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients Bernard Thienpont, Luc Mertens, Thomy de Ravel, European Heart Journal	2007	206
Single-cell chromosomal imbalances detection by array CGH Cédric Le Caignec, Claudia Spits, Karen Sermon, Nucleic Acids Research Array CghGenetic TestingCytogeneticsGeneticsPathology	2006	204
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation Ilaria Meloni, Maddalena Muscettola, Martine Raynaud, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum	2002	150
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation T. Bienvenu, Vincent des Portes, Nathalie McDonell, American Journal of Medical Genetics GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomics	2000	138
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. Marleen Decruyenaere, Gerry Evers‐Kiebooms, Andrea Boogaerts, Journal of Medical Genetics	1996	121
Psychotic disorders in Prader–Willi syndrome Annick Vogels, Mie‐Jef Descheemaeker, Veerle Govers, American Journal of Medical Genetics Part A	2004	114

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