Results 131 to 140 of about 2,477,262 (230)

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene

American Journal of Ophthalmology Case Reports
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth
Maram EA Abdalla Elsayed, Syed M. Ali, Carly Gardner, Igor Kozak   +3 more
doaj   +1 more source

Report of five cases with Joubert syndrome

, 2004
Joubert sendromu otozomal resesif geçiş gösteren, hipotoni, ataksi, epizodik hiperpne nöbetleriyle seyreden bir hastalıktır. Klinik olarak anormal göz hareketleri, nistagmus, hiperpne-apne epizodları ve mental-motor gelişme geriliği izlenir.

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[Joubert's syndrome].

Srpski arhiv za celokupno lekarstvo, 2008
In 1969 a new syndrome was described by Joubert et al. It is a very rare syndrome as only about 30 cases have been reported, and none in Yugoslavia. The main clinical characteristics are as ballows. - Disturbed respiratory rhythm alternating periods of hyperapnea and apnea) which tend to disappear as the child grows; - Abnormal eyemovements (jerky ...
D, Vranjesević, A, Djukić, N, Sekulić
openaire   +1 more source

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
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Exploring Joubert Syndrome: A Rare Case Study from Indonesia

Background:  Joubert Syndrome is a rare autosomal recessive disorder characterized by midbrain-hindbrain malformation and multisystem involvement.
Daniswara, Boromeus A., Siswanto, Johanes Edy, Pamungkas, Christophorus A. S., Pratanu, Lydia, Tasmina, Prayudijanto, Muhammad I.   +5 more
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Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome

Genetics in Medicine, 2021
Minna Luo, Zaisheng Lin, T. Zhu, Minjun Jin, D. Meng, Ruida He, Z. Cao, Yue Shen, Chao Lu, Ruikun Cai, Yongmao Zhao, Xueyan Wang, Hui Li, Shijing Wu, X. Zou, Guanjun Luo, Li Cao, Min Huang, Huike Jiao, Huafang Gao, R. Sui, Chengtian Zhao, Xu Ma, Muqing Cao   +23 more
semanticscholar   +1 more source

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
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Screening for CDG type Ia in Joubert syndrome.

, 2004
Item does not contain fulltextBACKGROUND: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements.
Kosztolanyi, Gyorgy, Huijben, K.M., Kosztolanyi, G.Y., Cser, Beatrix, Szonyi, Laszlo, Wevers, Ron, Morava, Eva, Kárteszi, Judit, Cser, B., Morava, E., Karteszi, J., Huijben, Karin, Szonyi, L., Wevers, R.A.   +13 more
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Joubert syndrome: accuracy of neuro-radiological findings

, 2004
To evaluate the accuracy of neuroimaging in establishing the diagnosis of Joubert syndrome. Computed tomography (CT) and magnetic resonance imaging (MRI) were performed in seven infants/children with the clinical diagnosis of Joubert syndrome.
Sattam S. Lingawi, Nahla A. Arab, Yasser Ragab Fahmy   +2 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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