Results 131 to 140 of about 2,206,162 (231)

Development of end-stage renal disease at a young age in two cases with Joubert syndrome

The Turkish Journal of Pediatrics, 2014
Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases.
Ferah Sönmez, Melike Güzünler-Şen, Dilek Yılmaz, Gamze Cömertpay, Marisol Heise, Sebahattin Çırak, Gökhan Uyanık   +6 more
doaj  

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement. [PDF]

BMC Pediatr, 2023
Li Q, Liu Q, Liu S, Yu L, Yang Z, Wang C, Wang J, Sun S.   +7 more
europepmc   +1 more source

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome [PDF]

, 2011
Madeline A. Lancaster, Dipika Gopal, Joon Kim, Sahar N. Saleem, Jennifer L. Silhavy, Carrie M Louie, Bryan E. Thacker, Yuko Williams, Maha S. Zaki, Joseph G. Gleeson   +9 more
openalex   +1 more source

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

, 2007
Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson   +32 more
openalex   +1 more source

Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome [PDF]

, 2011
D. Pugash, T. E. Oh, Kendra Godwin, Ashley Robinson, Angela Byrne, M. I. Van Allen, Horacio Osiovich   +6 more
openalex   +1 more source

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

Pharmacogenomics and Personalized Medicine
Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha ...
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY   +9 more
doaj  

Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -

, 2007
Jung Tae Kim∥, Sun Jun Kim, Chan-Uhng Joo, Soo Chul Cho, Dae-Youl Lee   +4 more
openalex   +1 more source

NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared [PDF]

, 2012
Antonio Lacquaniti, Valeria Chirico, Valentina Donato, Silvana Briuglia, Valeria Cernaro, Romina Gallizzi, Carmelo Salpietro, Michele Buemi   +7 more
openalex   +1 more source

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects [PDF]

, 2013
Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson   +6 more
openalex   +1 more source

Expansion of the Genotypic and Phenotypic Spectrum of <i>TCTN3</i>-Related Joubert Syndrome. [PDF]

Genes (Basel)
Lo Giudice M, Borgione E, Giuliano M, Santa Paola S, Di Blasi FD, Pettinato R, Romano C, Scuderi C.   +7 more
europepmc   +1 more source