E-LIB Suche - Ergebnisse für: Dodé, Catherine

1

Next Generation Sequencing Should Be Proposed to Every Woma..:

Eskenazi, Sarah ; Bachelot, Anne ; Hugon-Rodin, Justine...
Journal of the Endocrine Society. 5 (2021) 7 - p. , 2021

2

MON-224 Congenital Hypogonadotropic Hypogonadism: Features ..:

Fasciglione, Elsa ; Dode, Catherine ; Courtillot, Carine.
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

Link: https://doi.org/10.1210/..

3

Next-generation sequencing of patients with congenital anos..:

Alkelai, Anna ; Olender, Tsviya ; Dode, Catherine...
European Journal of Human Genetics. 25 (2017) 12 - p. 1377-1387 , 2017

Link: https://doi.org/10.1038/..

4

Defective signaling through plexin-A1 compromises the devel..:

Marcos, Séverine ; Monnier, Carine ; Rovira, Xavier...
Human Molecular Genetics. 26 (2017) 11 - p. 2006-2017 , 2017

Link: https://doi.org/10.1093/..

5

First mutation in the FSHR cytoplasmic tail identified in a..:

Hugon-Rodin, Justine ; Sonigo, Charlotte ; Gompel, Anne...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

6

Reconsidering olfactory bulb magnetic resonance patterns in..:

Hacquart, Thomas ; Ltaief-Boudrigua, Aïcha ; Jeannerod, Cécile...
Annales d'Endocrinologie. 78 (2017) 5 - p. 455-461 , 2017

Link: https://doi.org/10.1016/..

7

Identification of Multiple Gene Mutations Accounts for a ne..:

Bouilly, Justine ; Beau, Isabelle ; Barraud, Sara...
The Journal of Clinical Endocrinology & Metabolism. 101 (2016) 12 - p. 4541-4550 , 2016

Link: https://doi.org/10.1210/..

8

Expanding the Spectrum of Founder Mutations Causing Isolate..:

Choi, Jin-Ho ; Balasubramanian, Ravikumar ; Lee, Phil H....
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 10 - p. E1378-E1385 , 2015

Link: https://doi.org/10.1210/..

9

European Consensus Statement on congenital hypogonadotropic..:

Boehm, Ulrich ; Bouloux, Pierre-Marc ; Dattani, Mehul T....
Nature Reviews Endocrinology. 11 (2015) 9 - p. 547-564 , 2015

Link: https://doi.org/10.1038/..

10

New NOBOX Mutations Identified in a Large Cohort of Women W..:

Bouilly, Justine ; Roucher-Boulez, Florence ; Gompel, Anne...
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 3 - p. 994-1001 , 2015

Link: https://doi.org/10.1210/..

11

The Prevalence ofCHD7Missense Versus Truncating Mutations I..:

Marcos, Séverine ; Sarfati, Julie ; Leroy, Chrystel...
The Journal of Clinical Endocrinology & Metabolism. 99 (2014) 10 - p. E2138-E2143 , 2014

Link: https://doi.org/10.1210/..

12

Biased signaling through G‐protein‐coupled PROKR2 receptors..:

Sbai, Oualid ; Monnier, Carine ; Dodé, Catherine...
The FASEB Journal. 28 (2014) 8 - p. 3734-3744 , 2014

Link: https://doi.org/10.1096/..

13

Recurrent limb and facial oedema with R92Q mutation: A non-..:

Maillard-Lefebvre, Hélène ; Charlanne, Hilaire ; Hatron, Pierre-Yves..
La Presse Médicale. 42 (2013) 5 - p. 905-906 , 2013

Link: https://doi.org/10.1016/..

14

PROK2/PROKR2 Signaling and Kallmann Syndrome:

Dodé, Catherine ; Rondard, Philippe
Frontiers in Endocrinology. 4 (2013) - p. , 2013

Link: https://doi.org/10.3389/..

15

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome..:

Pingault, Veronique ; Bodereau, Virginie ; Baral, Viviane...
The American Journal of Human Genetics. 92 (2013) 5 - p. 707-724 , 2013

Link: https://doi.org/10.1016/..