Présentation
Contact
Ressources & publications
-
2013Journal (source)Clin GenetOFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
-
2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
-
2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
-
2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
-
2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...
-
2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
-
2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
-
2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
-
2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
-
2010Journal (source)J Med Genet
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
-
2012Journal (source)Nat Med
Gene therapy rescues cilia defects and restores olfactory function in a mamma...
-
2012Journal (source)Science
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
-
2013Journal (source)Eur J Hum Genet
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an...
-
2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
-
2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
-
2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
-
2018Journal (source)Am J Med Genet A
Loss of function IFT27 variants associated with an unclassified lethal fetal ...
-
2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
-
2018Journal (source)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...
-
2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
-
2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
-
2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
-
2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
-
2019Journal (source)Hum Mol Genet
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in...
-
2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...