Results 81 to 90 of about 1,250,329 (187)

Periodic Alternating Nystagmus Associated with Joubert Syndrome

, 2018
Joubert syndrome is a rare autosomal recessive genetic disorder characterized by ataxia, hypotonia, development delay, and \u27molar tooth sign\u27 on a MRI scan. Since it affects the brainstem and cerebellar vermis, various oculomotor abnormalities have
Hak-Seung Lee; Jae-Hwan Choi; Eun Hye Oh; Jae-Ho Jung; Seo Young Choi; Kwang-Dong Choi; Min-Ji Kim; Sang-Ho Kim
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Correspondence, Wilfred A. Joubert and family, 1871-1897

, 1871
Correspondence related to the Joubert family's time in Suriname when Wilfred A. Joubert was harvesting balata. Other correspondents include F. M.
Joubert, Wilfred Adelbert, 1867-1940 (Correspondent); Joubert, Louise Hooper (Correspondent); Greeley, George E. (Correspondent); Earle, Henry (Correspondent); Stockbridge, Wales R. (Correspondent)
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Joubert Syndrome Presenting With Young-Age Onset Ischemic Stroke: A Possible Etiologic Association

, 2010
Joubert syndrome is a rare genetic disorder of childhood that is characterized by hypoplasia or agenesis of the cerebellar vermis in addition to brainstem malformations.
Hung Youl Seok, Moon Ho Park, Eun So-Hee, Do-Young Kwon, Young Sun Kang, Mi-Yeon Eun   +5 more
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Oeuvres / de J. Joubert

, 1874
OEUVRES / DE J. JOUBERT Oeuvres / de J. Joubert Pensées de J. Joubert ; précédées de sa correspondance d' une notice sur sa vie, son caractère et ses travaux / par M. Paul de Raynal et des jugements littéraires de MM.
Joubert, Joseph
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Neuroleptic Malignant Syndrome Due to Risperidone Treatment in a Child With Joubert Syndrome

, 2009
Joubert syndrome is a rare autosomal recessive disease characterized by hypotonia, ataxia, episodic hyperpnea, psychomotor retardation, abnormal ocular movements, cerebellar vermian hypoplasia, and molar tooth sign on magnetic resonance imaging ...
Akin, Ridvan, Ridvan Akin, Ayhan Congologlu, Congologlu, Ayhan, Bulent Unay, Demet Altun, Unay, Bulent, Vurucu, Sebahattin, Sebahattin Vurucu, ALTUN BİNGÖL, Demet   +9 more
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Joubert syndrome with associated corpus callosum agenesis

, 2002
In 1969, Joubert et al. studied a family where four of six children had a severe clinical condition with episodic alternate hyperpnoea and apnoea, hypotonia, ataxia, psychomotor delay, and abnormal ocular movements.
REGNICOLO L, ZAMPONI N, MESSORI A, POLONARA, GABRIELE, ROSSI B, CARDINALI C.   +5 more
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Joubert syndrome- A case presentation [Joubert sendromu- Olgu sunumu]

, 2010
Joubert syndrome is an autosomal recessive disorder characterized by partial or complete agenesis of the cerebellar vermis. Clinical features include attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor ...
Ozturk S., Sakman B., Ciliz D.
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The role of 99mTc DMSA renal scintigraphy in Joubert syndrome

, 2006
Joubert syndrome is a severe autosomal recessive disorder, which is characterized by hypotonia, impaired psychomotor development, retinal dystrophy with abnormal ocular movements and cerebellar vermis agenesis with dilatation of the fourth ventricle ...
Lay Ergün, ESER, Fani Bozkurt, M., Kara Gedik, G.   +2 more
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Optic Nerve Atrophy Associated with Cerebellar Hypoplasia: Is This a Variant of Joubert\u27s Syndrome or a New Syndrome?

, 2005
To report a patient with temporal optic nerve atrophy and features of Joubert\u27s ...
Heather Bartlett, MD; Victoria S. Pelak, MD
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Photoclinic

مجله دانشگاه علوم پزشکی گرگان, 2016
Case presentation: A 20 month-old hypotonic boy with a history of preterm labor at 32 weeks of gestational age, secondary generalized seizures in infancy, hypothyroidism (T4: 2, TSH: 14); motor and speech developmental delay, mild  ataxia and renal ...
Hosseininejad SM, Safaeian B, Hosseini SA   +2 more
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