E-LIB Suche - Ergebnisse für: Pasmant, Eric

1

Droplet Digital PCR for Fast and Accurate Characterization ..:

Pacot, Laurence ; Ye, Manuela ; Nectoux, Juliette...
The Journal of Molecular Diagnostics. 26 (2024) 2 - p. 150-157 , 2024

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

2

Correlation between large rearrangements and patient phenot..:

Pacot, Laurence ; Girish, Milind ; Knight, Samantha...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

3

NF1 mutations as biomarker of response to immune checkpoint..:

Giraud, Jean-Stéphane ; Jouinot, Anne ; Pasmant, Eric.
npj Precision Oncology. 8 (2024) 1 - p. , 2024

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

4

A de novo germline pathogenic BRCA1 variant identified foll..:

Mouren, Adrien ; Chansavang, Albain ; Hamzaoui, Nadim...
Familial Cancer. , 2024

Link: https://doi.org/10.1007/..

5

Carney complex predisposes to breast cancer: prospective st..:

Vaduva, Patricia ; Violon, Florian ; Jouinot, Anne...
European Journal of Endocrinology. 190 (2024) 2 - p. 121-129 , 2024

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

6

Neurofibromatosis type 1 mosaicism in patients with constit..:

Guerrini-Rousseau, Léa ; Pasmant, Eric ; Muleris, Martine...
Journal of Medical Genetics. 61 (2023) 2 - p. 158-162 , 2023

Link: https://doi.org/10.1136/..

7

Clinical and genetic definition of serum bilirubin levels f..:

Poynard, Thierry ; Deckmyn, Olivier ; Peta, Valentina...
Hepatology Communications. 7 (2023) 10 - p. , 2023

Link: https://doi.org/10.1097/..

8

Comment on Intragenic inversions in NF1 gene as pathogenic ..:

Pacot, Laurence ; Chansavang, Albain ; Jacques, Sébastien...
European Journal of Human Genetics. 31 (2023) 4 - p. 380-382 , 2023

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

9

Biology and Management of High-Grade Chondrosarcoma: An Upd..:

Tlemsani, Camille ; Larousserie, Frédérique ; De Percin, Sixtine...
International Journal of Molecular Sciences. 24 (2023) 2 - p. 1361 , 2023

Link: https://doi.org/10.3390/..

10

Cancérogenèse et variants faux sens pathogènes du domaine e..:

Chansavang, Albain ; Rousseau, Benoit ; Leulliot, Nicolas...
médecine/sciences. 38 (2022) 10 - p. 763-765 , 2022

Link: https://doi.org/10.1051/..

11

Transcriptome in paraffin samples for the diagnosis and pro..:

Jouinot, Anne ; Lippert, Juliane ; Sibony, Mathilde...
European Journal of Endocrinology. 186 (2022) 6 - p. 607-617 , 2022

Link: https://doi.org/10.1530/..

12

OR12-3 Identification of Predictive Criteria for the Primar..:

Assié, Guillaume ; Bertherat, Jérôme ; Bonnet-Serrano, Fidéline...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A83-A84 , 2022

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

13

KDM1A inactivation causes hereditary food-dependent Cushing..:

Vaczlavik, Anna ; Bouys, Lucas ; Violon, Florian...
Genetics in Medicine. 24 (2022) 2 - p. 374-383 , 2022

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

14

Contribution of whole genome sequencing in the molecular di..:

Pacot, Laurence ; Pelletier, Valerie ; Chansavang, Albain...
Human Genetics. 142 (2022) 1 - p. 1-9 , 2022

Link: https://doi.org/10.1007/..

15

VEGF and VEGFR family members are expressed by neoplastic c..:

Bonsang, Benjamin ; Maksimovic, Laurent ; Maille, Pascale...
Annals of Diagnostic Pathology. 60 (2022) - p. 151997 , 2022

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