Karin Mayer - Concepedia

Author

Karin Mayer

Also Known As

K M Mayer, K MAYER, K Mayer, K. Mayer, K.M. Mayer, Karin Mayer, Katie Mayer, Mayer, K, Mayer, Karin, Mayer, Kenneth Ingram

128

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

Inserm Ghent University Hospital Université de Montpellier Istituti di Ricovero e Cura a Carattere Scientifico Stanford Medicine

About

Karin Mayer is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	21	1.7K
2	Public Health	7	7	958
3	Biochemistry	2	2	120
4	Health Sciences	1	1	61
5	Applied Physiology	1	1	61

Karin Mayer

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys, The American Journal of Human Genetics Marfan SyndromeMendelian DisorderGenetic DisorderMedicineGenetics	2007	593
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes Christian P. Kratz, Lude Franke, Harm Peters, British Journal of Cancer	2015	207
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations Laurence Faivre, Alice Masurel‐Paulet, Gwenaëlle Collod‐Béroud, PEDIATRICS GeneticsGenetic EpidemiologyPathologyMolecular GeneticsRelated Type	2008	173
Cardiovascular manifestations in men and women carrying a FBN1 mutation Delphine Détaint, Laurence Faivre, Gwenaëlle Collod‐Béroud, European Heart Journal	2010	159
Antitumoral Activity of Rapamycin in Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex Ralf Wienecke, Ingrid Fackler, Ulrich Linsenmaier, American Journal of Kidney Diseases Tuberous Sclerosis ComplexAntitumoral ActivityUrologyMedicinePathology	2006	117
The new Ghent criteria for Marfan syndrome: what do they change? Laurence Faivre, Gwenaëlle Collod‐Béroud, Lesley C. Adès, Clinical Genetics	2011	116
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands Laurence Faivre, Gwenaëlle Collod‐Béroud, Anne H. Child, Journal of Medical Genetics	2008	101
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11 Christian Flotho, Doris Steinemann, Charles G. Mullighan, Oncogene ChromatinMendelian DisorderGenetic DisorderMedicineNf1 Locus	2007	84
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation Laurence Faivre, Gwenaëlle Collod‐Béroud, Bert Callewaert, European Journal of Human Genetics Mutation-type AnalysisMendelian DisorderInternational SeriesGenetic DisorderMedicine	2008	82
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex Mark Nellist, Őzgür Sancak, Miriam Goedbloed, European Journal of Human Genetics Molecular PharmacologyBiochemistryMedicineDistinct EffectsSingle Amino-acid Changes	2004	82

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