Results 191 to 200 of about 2,206,324 (288)

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders [PDF]

, 2009
Sahar N. Saleem, Maha S. Zaki
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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

, 2004
Melissa A. Parisi, Craig L. Bennett, Melissa L. Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis Shaw, Ruth McDonald, Allison A. Eddy, Phillip F. Chance, Ian Glass   +9 more
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Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1 [PDF]

, 2010
Jennifer Westfall, Clifford Hoyt, Q. Liu, Yen‐Chang Hsiao, Eric A. Pierce, Patrick Page-McCaw, Russell J. Ferland   +6 more
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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
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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

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
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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
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Novel variants identified in five Chinese families with Joubert Syndrome: a case report. [PDF]

BMC Med Genomics, 2023
Fang L, Wang L, Yang L, Xu X, Pei S, Wu.
europepmc   +1 more source

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
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Joubert Syndrome: Imaging Findings and Report of a Case

مجله كليه طب الكندي, 2016
Background: Joubert syndrome (JS) is a very rare autosomal recessive disorder characterized by agenesis of cerebellar vermis, abnormal eye movements, respiratory irregularities, and delayed generalized motor development.
Qays A. Hassan, Asmaa H. Alsharea
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