Results 101 to 110 of about 2,206,162 (231)

Joubert Syndrome: Clinical Manifestations and Magnetic Resonance Imaging [PDF]

, 1994
Seung Cheol Kim, Woo Sun Kim, In One Kim, Kyung Mo Yeon, Jong Gi Song, Yong Kyu Yoon, Yong Seung Hwang   +6 more
openalex   +1 more source

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report

Radiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD, Bemnet Mengesha Tessema, MD, Redaie Girmay Gebrekidan, MD   +2 more
doaj  

Joubert syndrome and related disorders

Neurologia i Neurochirurgia Polska, 2012
The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement.
Justyna Paprocka, Ewa Jamroz
openaire   +3 more sources

Joubert syndrome: Report of a neonatal case [PDF]

, 2003
Mustafa Akçakuş, Tamer Güneş, Sefer Kumandaş, Selim Kurtoğlu, Abdulhakim Çoşkun   +4 more
openalex   +1 more source

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG Advances, 2021
Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell ...
Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty   +19 more
doaj  

Homozygosity mapping of a third Joubert syndrome locus to 6q23 [PDF]

, 2004
Clotilde Lagier‐Tourenne, Eugen Boltshauser, Noralv Breivik, Moez Gribaa, Christine Bétard, Clara Barbot, M. Kœnig   +6 more
openalex   +1 more source

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
doaj  

Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis

Nature Communications, 2016
The primary cilium is essential for embryonic development and tissue pattern formation. Here the authors show that PIPKIγ localizes to the basal body of the primary cilium and cooperates with the Joubert Syndrome associated protein INPP5E to regulate the
Qingwen Xu, Yuxia Zhang, Qing Wei, Yan Huang, Jinghua Hu, Kun Ling   +5 more
doaj   +1 more source

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome [PDF]

, 2004
Russell J. Ferland, Wafaa Eyaid, Randall V. Collura, Laura D Tully, R. Sean Hill, Doha Al-Nouri, Ahmed Al‐Rumayyan, Meral Topçu, Generoso G. Gascon, Adria Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher A. Walsh   +12 more
openalex   +1 more source

Joubert Syndrome: Radiographic Images

Case Reports in Clinical Practice, 2017
No ...
Reza Bidaki, Azam Ghanei, Mohammad Ebrahim Ghanei, Ehsan Zarepur   +3 more
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