Paul Laissue
机构: LATAM Medical Director. Orphan Diseases Unit. Biopas Laboratoires. BIOPAS Group. Inserm U1016, CNRS
每年引用次数
引用次数
引用: 3,594
H-指数: 32
I10-指数 : 66
出版物: 102
004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
L. Patiño , H. Mateus , D. Fonseca , C. Restrepo
instname:Universidad del Rosario
2013
Première mise en cause de l’autophagie dans l’étiologie de l’insuffisance ovarienne primaire
C Delcour , LC Patiño , F Magnin , L Amazit
Annales d'Endocrinologie 78 ( 4) 226
2017
Anomalies des récepteurs des bone morphogenic proteins : une nouvelle cause d’insuffisance ovarienne primaire
L Renault , LC Patiño , B Delemer , P Laissue
Annales D Endocrinologie 79 ( 4) 224
2018
Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.
O. Ortega-Recalde , D. Silgado , C. Fetiva , D.J. Fonseca
British Journal of Dermatology 175 ( 6) 1372 -1375
1
2016
P-006 Polymorphisms of placental alkaline phosphatase gene are associated with recurrent pregnancy loss
S. Bouvier , M. Vatin , L. Bellazi , X. Montagutelli
Thrombosis Research 131
2013
OC-2a: Novel genes and mutations in patients with recurrent spontaneous abortion
P. Quintero-Ronderos , E. Mercier , M.N. Fukuda , D. Vaiman
Thrombosis Research 151
2017
P-015: Association of FOXD1 variants with pregnancy failures in mice and humans
P. Laissue , B. Lakhal , M. Vatin , F. Batista
Thrombosis Research 151
2017
Mouse models for identifying genes modulating fertility parameters
P. Laissue , D. L’Hôte , C. Serres , D. Vaiman
Animal 3 ( 1) 55 -71
6
2009
Genomic Medicine in Developing Countries and Resource-Limited Environments
T. Katsila , K. Mitropoulos , Z. Mohamed , D.A. Forero
Molecular Diagnostics (Third Edition) 459 -467
2017
Analyse génétique des insuffisances ovariennes prématurées : implication des gènes forkhead et TGF-β
B. Lakhal , P. Laissue , H. Elghèzal , M. Fellous
Gynecologie Obstetrique & Fertilite 36 ( 9) 862 -871
2008
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
O. Ortega-Recalde , M. B. Moreno , J. I. Vergara , D. J. Fonseca
Clinical and Experimental Dermatology 40 ( 7) 757 -760
4
2015
BiallelicHERC1mutations in a syndromic form of overgrowth and intellectual disability
O. Ortega-Recalde , O.I. Beltrán , J.M. Gálvez , A. Palma-Montero
Clinical Genetics 88 ( 4) e1 -e3
19
2015
A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene
D.J. Fonseca , R.F. Rojas , J.I. Vergara , X. Ríos
British Journal of Dermatology 168 ( 2) 456 -458
10
2013
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
Elfride De Baere , Silvia Copelli , Sandrine Caburet , Paul Laissue
Pediatric endocrinology reviews 2 ( 4) 653 -660
20
2005
Functional genomics and molecular medicine of XXI century
Paul Laissue
Revista Ciencias de la Salud 5 -6
2011
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype
Dora Janeth Fonseca , Paul Laissue , Adrien Morel , David Bolívar-Salazar
Pharmacogenomics and Personalized Medicine 14 287 -299
2
2021
A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy.
Nora Contreras , Carlos Alberto Calderón-Ospina , Paul Laissue , Dora Janeth Fonseca-Mendoza
Journal of Personalized Medicine 11 ( 5) 400
2021
Improving the evaluation of milestones for students completing a clinical genetics elective
Paul Laissue , Carlos M Restrepo , Angela María Ortiz
Genetics in Medicine 19 ( 12) 1380 -1380
2
2017
Success stories in genomic medicine from resource-limited countries
Konstantinos Mitropoulos , Hayat Al Jaibeji , Diego A. Forero , Paul Laissue
Human Genomics 9 ( 1) 11 -11
30
2015
BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency
Lucie Renault , Liliana C Patiño , Françoise Magnin , Brigitte Delemer
The Journal of Clinical Endocrinology and Metabolism 105 ( 4)
6
2020
Vaiman Daniel VEITIA Reiner A. Patino Liliana C. Oscar Ortega-Recalde SAAD ALI Diego A. Ojeda Gaetan Burgio Diego Forero, MD, PhD Ivo Gut Sandrine Caburet Bérénice A. Benayoun jeyabalan nallathambi Adrián LLerena MD PhD Professor Clinical Pharmacology Sonia R Grover Erin Turbitt Peter Koopman Giovanni Levi Stefan White Krishnaswamy S Carlos Fernando Prada Quiroga