Results 191 to 200 of about 12,422 (262)

The ciliopathy gene ftm/rpgrip1l controls mouse forebrain patterning via region-specific modulation of hedgehog/gli signaling [PDF]

, 2019
Abraham Andreu‐Cervera, Isabelle Anselme, Alice Karam, Christine Laclef, Martin Catala, Sylvie Schneider‐Maunoury   +5 more
openalex   +1 more source

In situ proximity ligation assay for analysing spatial interactions between ciliary proteins. [PDF]

BMC Mol Cell Biol
Pfirrmann T, Rüther U, Gerhardt C.
europepmc   +1 more source

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. [PDF]

BMJ Case Rep
Kumasaka I, Takushi H, Watanabe T, Ota C.   +3 more
europepmc   +1 more source

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project [PDF]

, 2019
Gabrielle Wheway, Hannah M. Mitchison
openalex   +1 more source

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]

, 2019
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P.M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta   +27 more
openalex   +1 more source

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication. [PDF]

Reports (MDPI)
Furuta Y, Nelson ET, Tinker RJ, Grochowsky AR.   +3 more
europepmc   +1 more source

Phenotypic Spectrum of <i>KATNIP</i>-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature. [PDF]

Genes (Basel)
Tedesco MG, Donati I, Romeo C, Dal Bo S, Nardini C, Innoceta AM, Parmeggiani G, Patanè A, Graziano C.   +8 more
europepmc   +1 more source

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]

, 2017
Connolly, Anne M, Cooper, Megan A, Dharnidharka, Vikas R, et al,, Willing, Marcia C   +4 more
core   +2 more sources

Renal insufficiency caused by <i>TMEM216</i> gene mutation: Case Report. [PDF]

Front Med (Lausanne)
Sun L, Xu M, Deng X, Liu X.
europepmc   +1 more source

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

, 2017
Sheila Castro‐Sánchez, María Álvarez‐Satta, M.A. Tohamy, Sergi Beltrán, Sophia Derdak, Diana Valverde   +5 more
openalex   +2 more sources