OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
T Celse, A Tingaud-Sequeira, K Dieterich… - Journal of medical …, 2023 - jmg.bmj.com
Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause
of head and neck malformations in children after orofacial clefts. OAVS is clinically …
of head and neck malformations in children after orofacial clefts. OAVS is clinically …
Comparative evaluation of hepatitis C virus RNA quantitation by branched DNA, NASBA, and monitor assays
F Lunel, P Cresta, D Vitour, C Payan, B Dumont… - Hepatology, 1999 - journals.lww.com
Several studies have shown a relationship between pretreatment hepatitis C virus (HCV)
viral load and the response to interferon (IFN) therapy, creating a need for quantitative HCV …
viral load and the response to interferon (IFN) therapy, creating a need for quantitative HCV …
Exon 7 Deletion in the bcr-abl Gene Is Frequent in Chronic Myeloid Leukemia Patients and Is Not Correlated with Resistance against Imatinib
JB Gaillard, C Arnould, S Bravo, D Donadio… - Molecular cancer …, 2010 - AACR
Chronic myeloid leukemia (CML) patients treated with imatinib develop frequent resistance
generally due to a point mutation. Recently, large rearrangements of abl sequence have …
generally due to a point mutation. Recently, large rearrangements of abl sequence have …
Monosomal karyotype routinely defines a poor prognosis subgroup in acute myeloid leukemia and is frequently associated with TP53 deletion
JB Gaillard, J Chiesa, D Reboul, A Arnaud… - Leukemia & …, 2012 - Taylor & Francis
Monosomal karyotype (MK) defined by at least two autosomal monosomies, or one
autosomal monosomy associated with at least one structural abnormality, is a new …
autosomal monosomy associated with at least one structural abnormality, is a new …
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
E Mousty, S Issa, F Grosjean, JY Col… - Prenatal …, 2015 - pubmed.ncbi.nlm.nih.gov
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with
a prenatal diagnosis A homozygous PAX3 mutation leading to severe presentation of …
a prenatal diagnosis A homozygous PAX3 mutation leading to severe presentation of …
[CITATION][C] Importance of systematic FISH to complete the genetic counseling in de novo microdeletionnel duplicationnel recurrent syndrome. A case of 17q12 …
D Reboul, C Arnoult, F Grosjean… - MOLECULAR …, 2019 - … , 4 CRINAN ST, LONDON N1 9XW …
[CITATION][C] A new case of t (1; 11)(p23; q32) MLL-EPS15 AML after treatment of a BRAF V600E positive CLL with Richter syndrome
JB Gaillard, J Chiesa, D Reboul… - …, 2013 - … VAN GODEWIJCKSTRAAT 30 …
[CITATION][C] Large genomic imbalances and phenotype
M Doco-Fenzy, JM Dupont… - EUROPEAN …, 2022 - … , 4 CRINAN ST, LONDON, N1 9XW …