Classic and variants APLs, as viewed from a therapy response
MC Geoffroy, H de Thé - Cancers, 2020 - mdpi.com
Most acute promyelocytic leukemia (APL) are caused by PML-RARA, a translocation-driven
fusion oncoprotein discovered three decades ago. Over the years, several other types of …
fusion oncoprotein discovered three decades ago. Over the years, several other types of …
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye
Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed
in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the …
in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the …
How far should we explore hypospadias? Next-generation sequencing applied to a large cohort of hypospadiac patients
V Ea, A Bergougnoux, P Philibert… - European urology, 2021 - Elsevier
Background Next-generation sequencing (NGS) is generally used for patients with severe
disorders of sex development (DSD). However, NGS has not been applied extensively for …
disorders of sex development (DSD). However, NGS has not been applied extensively for …
[HTML][HTML] Review of evidence for environmental causes of uveal coloboma
EB Selzer, D Blain, RB Hufnagel, PJ Lupo… - Survey of …, 2022 - Elsevier
Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of
childhood blindness. It occurs from a failure of the optic fissure to close during embryonic …
childhood blindness. It occurs from a failure of the optic fissure to close during embryonic …
High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta …
VK Kalaskar, RP Alur, LAK Li, JW Thomas… - Human …, 2020 - Wiley Online Library
Uveal coloboma is a potentially blinding congenital ocular malformation caused by the
failure of optic fissure closure during the fifth week of human gestation. We performed …
failure of optic fissure closure during the fifth week of human gestation. We performed …
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea
J Kulikowska, A Jakubiuk-Tomaszuk… - Frontiers in …, 2023 - frontiersin.org
Variants in the ERCC4 gene have been described to be associated with the following
autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma …
autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma …
[引用][C] Séquençage à haut-débit d'un panel de 336 gènes dans une cohorte de 284 patients présentant un hypospadias isolé
V Ea - 2020 - Université Toulouse III-Paul Sabatier