Complexité génétique des ciliopathies et identification de nouveaux gènes

Cils et kystes rénaux

(2014) Mélanie Paces-Fessy   M S-MEDECINE SCIENCES

Élongation de l’axonème et dynamique du transport intraflagellaire

(2014) Cécile Fort et al.   M S-MEDECINE SCIENCES

Le cil primaire, orchestrateur de la morphogenèse cérébrale

(2014) Christine Laclef   M S-MEDECINE SCIENCES

Cils et morphogenèse cardiaque

(2014) Nicolas Diguet et al.   M S-MEDECINE SCIENCES

Syndrome de Bardet-Biedl : cils et obésité

(2014) Kirsley Chennen et al.   M S-MEDECINE SCIENCES

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Primary ciliary dyskinesia, an orphan disease

(2012) Mieke Boon et al.   EUROPEAN JOURNAL OF PEDIATRICS

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

(2011) Maha S. Zaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Scrutinizing ciliopathies by unraveling ciliary interaction networks

(2011) Jeroen van Reeuwijk et al.   HUMAN MOLECULAR GENETICS

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

The primary cilium at a glance

(2010) P. Satir et al.   JOURNAL OF CELL SCIENCE

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

What drives cell morphogenesis: A look inside the vertebrate photoreceptor

(2009) Breandán Kennedy et al.   DEVELOPMENTAL DYNAMICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS