Marie‐Laure Kottler

Author

Marie‐Laure Kottler

Centre Hospitalier Universitaire de Caen Normandie

Also Known As

Kottler, Marie-Laure, M L Kottler, M. Kottler, M. L. Kottler, M.-L. Kottler, M.L. Kottler, M.‐L. Kottler, Marie-Laure Kottler, Marie‐Laure Kottler

Publications

3.3K

Citations

H-Index

Concepts

All Affiliations

Centre Hospitalier Universitaire de Caen Normandie Université de Caen Normandie Inserm Sorbonne Université Centre National de la Recherche Scientifique

About

Marie‐Laure Kottler is an author at Centre Hospitalier Universitaire de Caen Normandie specializing in medicine, endocrinology, and obstetrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	24	1.9K
2	Public Health	11	12	655
3	Health Sciences	2	2	95
4	Social Sciences	1	1	20
5	Allergy	1	1	14

Marie‐Laure Kottler

Publications

3.1K

Citations

H-Index

Page 1

	Year	Citations
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsLoss-of-function Mutations	2003	825
Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia Anne Lienhardt, Mei Bai, Jean‐Pierre Lagarde, The Journal of Clinical Endocrinology & Metabolism	2001	150
<i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait Arnaud Molin, R. Baudoin, Martin Kaufmann, The Journal of Clinical Endocrinology & Metabolism	2015	140
KiSS‐1 and GPR54 Genes are Co‐Expressed in Rat Gonadotrophs and Differentially Regulated <i>In Vivo</i> by Oestradiol and Gonadotrophin‐Releasing Hormone Nicolas Richard, G. Galmiche, Sophie Corvaisier, Journal of Neuroendocrinology Human GrowthGeneticsRat GonadotrophsFemale Reproductive FunctionGpr54 Expression	2008	140
A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance Virginie Mariot, Stéphanie Maupetit‐Mehouas, Christiane Sinding, The Journal of Clinical Endocrinology & Metabolism	2008	109
Resistance of Hypogonadic Patients with Mutated GnRH Receptor Genes to Pulsatile GnRH Administration Philippe Caron, Stéphanie Chauvin, Sophie Christin‐Maître, The Journal of Clinical Endocrinology & Metabolism GeneticsGynecologyReproductive BiologyReproductive EndocrinologyHypogonadic Patients	1999	109
A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib Nicolas Richard, Geneviève Abéguilé, Nadia Coudray, The Journal of Clinical Endocrinology & Metabolism	2012	95
NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis Catherine Dodé, Corinne Fouveaut, Geert Mortier, Human Mutation	2006	87
Supernumerary marker chromosomes management in prenatal diagnosis Nicolas Gruchy, Marine Lebrun, M. Herlicoviez, American Journal of Medical Genetics Part A	2008	85
A Large Homozygous or Heterozygous In-Frame Deletion within the Calcium-Sensing Receptor’s Carboxylterminal Cytoplasmic Tail That Causes Autosomal Dominant Hypocalcemia<sup>1</sup> Anne Lienhardt, Michèle Garabédian, Mei Bai, The Journal of Clinical Endocrinology & Metabolism GeneticsNovel Casr MutationCellular PhysiologyAffected GrandfatherCarboxylterminal Cytoplasmic Tail	2000	81

Page 1