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Dominique Vidaud

Showing results (41-50 of 90) with videos related to

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Human Pathology|January 4, 2011
SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehogAmélie Carbonnelle-Puscian, Valérie Vidal, Ingrid Laurendeau, et al.
Annales De Biologie Clinique|May 31, 2016
Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotypeLucie Orhant, Sophie Rondeau, Aurélie Vasson, et al.
Proteins|November 3, 2004
Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implicationsWen Hwa Lee, Annick Raas-Rotschild, Maria A Miteva, et al.
Human Molecular Genetics|May 7, 2009
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1Audrey Sabbagh, Eric Pasmant, Ingrid Laurendeau, et al.
Plos One|April 24, 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementationMathilde Pacault, Camille Verebi, Magali Champion, et al.
European Journal of Human Genetics : EJHG|July 31, 2014
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Eric Pasmant, Béatrice Parfait, Armelle Luscan, et al.
The Journal of Molecular Diagnostics : JMD|September 22, 2009
Detection and characterization of NF1 microdeletions by custom high resolution array CGHEric Pasmant, Audrey Sabbagh, Julien Masliah-Planchon, et al.
Molecular Medicine (Cambridge, Mass.)|September 17, 2010
Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patientsEric Pasmant, Julien Masliah-Planchon, Pascale Lévy, et al.
European Journal of Human Genetics : EJHG|October 13, 2011
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasisEric Pasmant, Philippe Goussard, Laetitia Baranes, et al.
Neuro-Oncology Advances|July 10, 2020
NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentationMaría Jesús Lobón-Iglesias, Ingrid Laurendeau, Léa Guerrini-Rousseau, et al.
Pageof 9

Showing results (41-50 of 90) with videos related to

Sort By:
Pageof 9
Human Pathology|January 4, 2011
SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehogAmélie Carbonnelle-Puscian, Valérie Vidal, Ingrid Laurendeau, et al.
Annales De Biologie Clinique|May 31, 2016
Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotypeLucie Orhant, Sophie Rondeau, Aurélie Vasson, et al.
Proteins|November 3, 2004
Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implicationsWen Hwa Lee, Annick Raas-Rotschild, Maria A Miteva, et al.
Human Molecular Genetics|May 7, 2009
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1Audrey Sabbagh, Eric Pasmant, Ingrid Laurendeau, et al.
Plos One|April 24, 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementationMathilde Pacault, Camille Verebi, Magali Champion, et al.
European Journal of Human Genetics : EJHG|July 31, 2014
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Eric Pasmant, Béatrice Parfait, Armelle Luscan, et al.
The Journal of Molecular Diagnostics : JMD|September 22, 2009
Detection and characterization of NF1 microdeletions by custom high resolution array CGHEric Pasmant, Audrey Sabbagh, Julien Masliah-Planchon, et al.
Molecular Medicine (Cambridge, Mass.)|September 17, 2010
Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patientsEric Pasmant, Julien Masliah-Planchon, Pascale Lévy, et al.
European Journal of Human Genetics : EJHG|October 13, 2011
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasisEric Pasmant, Philippe Goussard, Laetitia Baranes, et al.
Neuro-Oncology Advances|July 10, 2020
NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentationMaría Jesús Lobón-Iglesias, Ingrid Laurendeau, Léa Guerrini-Rousseau, et al.
Pageof 9