Results 71 to 80 of about 1,250,329 (187)
Ophthalmologic Findings In Joubert Syndrome
, 2009 Joubert syndrome (JS) is a sporadic or autosomal-recessive inherited complex malformation of the hindbrain.
Veit Sturm; Hana Leiba; Marcel Menke; Eugen Boltshauser; Klara Landau
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eLife, 2015 Small G-proteins of the ADP-ribosylation-factor-like (Arl) subfamily have been shown to be crucial to ciliogenesis and cilia maintenance. Active Arl3 is involved in targeting and releasing lipidated cargo proteins from their carriers PDE6δ and UNC119a/b ...
Katja Gotthardt +5 more
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Chorioretinal coloboma and Joubert syndrome: a nonrandom association.
, 1984 In 1969 MARIE JOUBERT described a syndrome characterized by episodic hyperpnea, abnormal eye movments, ataxia, and mental and motor retardation associated with cerebellar vermis agenesis. Additional patients were later reported. In 1980 Lindhout et a l .
Laverda AM +5 more
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Joubert syndrome associated with total corpus callosum agenesis
, 2006 Joubert syndrome was first described in 1969. It is a rare inherited disorder demonstrating one of the developmental defects of the cerebellar vermis. The main clinical signs of the syndome include developmental delay, hypotonia, ataxia, abnormal ocular ...
Balci K., Unlu E., Utku U., Asil T.
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Joubert syndrome: A case report
, 2004 Joubert sendromu, otozomal resesif geçiş gösteren, epizodik hiperpne, anormal göz hareketleri, hipotoni, ataksi, gelişme geriliği, beyin ve beyincik bozuklukları ile kendini gösteren bir hastalıktır.
Mürüvet Elkay +4 more
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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Case Reports in Pediatrics, 2015 We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev +4 more
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Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
Case Reports in Pediatrics, 2011 We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill +4 more
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Joubert syndrome with cleft palate
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014 Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as
Annavarapu Gopalakrishna +4 more
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Joubert syndrome: are kidneys involved?
, 1995 Renal involvement was checked in our series of 12 children with Joubert syndrome (JS) who fulfil the cardinal diagnostic features. No patient had clinical evidence of congenital retinal dystrophy.
Willi U +3 more
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