Results 101 to 110 of about 1,250,329 (187)

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  

Joubert syndrome in two sibs and the differential diagnosis of cerebellar vermian dysgenesis

, 1997
We present two siblings with Joubert syndrome. Malformation of the cerebellar vermis, abnormal eye movements, developmental delay and retinitis pigmentosa are described. The differential diagnosis of vermian dysgenesis is discussed.

core  

A case of joubert syndrome with t (20; 21)

, 2000
Joubert syndrome (JS) is a developmental disorder characterized by cerebellar vermis hypoplasia, hypotonia, psychomotor retardation, abnormal respiratory pattern and abnormal eye movements.
Sarenur Tütüncüoğlu, Gül Sapmaz, F. Ferda Özkınay, Hasan Yüksel, Cihangir Özkınay, Raşit V. Yağcı, Ruhi Özyürek, Cumhur Gündüz   +7 more
core  

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Farbood Z, Dehghanian F, Masoudi M, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +7 more
europepmc   +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  

Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis. [PDF]

Intractable Rare Dis Res
Babina T, Górczewska BA, Jakubowska-Pietkiewicz E.   +2 more
europepmc   +1 more source

A Survey on the Current Status of Joubert Syndrome and Related Disorders Conducted Through a Patient and Family Group in Japan. [PDF]

Cureus
Mano H.
europepmc   +1 more source

Case series: Joubert syndrome and eosinophilic esophagitis. [PDF]

JPGN Rep
Schening J, Leon-Paredes S, Chiou E, Szafron V, Olive A, Anvari S.   +5 more
europepmc   +1 more source

Functional Validation of a <i>CC2D2A</i> Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome. [PDF]

Diagnostics (Basel)
Wang F, Zhang J, Lu C, Wang X, Gao H, Fu X, Liu Y, Zhang M, Chen Y, Li L, Cao B, Luo M, Yan Y.   +12 more
europepmc   +1 more source

Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report. [PDF]

Prog Rehabil Med
Mathews E, Goyal V, Mhambre A, Gaur AK.
europepmc   +1 more source