Literature DB >> 19129991

MRI findings in Joubert syndrome.

Suhil A Choh1, Naseer A Choh, Shabir A Bhat, Majid Jehangir.   

Abstract

Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings.

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Mesh：

Year:  2009        PMID： 19129991     DOI： 10.1007/s12098-008-0232-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  13 in total

1.  Case 25: Joubert syndrome.

Authors:  E J van Beek; C B Majoie
Journal:  Radiology       Date:  2000-08       Impact factor: 11.105

Review 2.  Recognition of the clinical signs and symptoms of Joubert syndrome.

Authors:  Linda Merritt
Journal:  Adv Neonatal Care       Date:  2003-08       Impact factor: 1.968

Review 3.  Genetic basis of Joubert syndrome and related disorders of cerebellar development.

Authors:  Carrie M Louie; Joseph G Gleeson
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

4.  Brain stem and cerebellar findings in Joubert syndrome.

Authors:  Ibrahim A Alorainy; Sohail Sabir; Mohammed Z Seidahmed; Hamid A Farooqu; Mustafa A Salih
Journal:  J Comput Assist Tomogr       Date:  2006 Jan-Feb       Impact factor: 1.826

Review 5.  Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Authors:  Dan Doherty; Ian A Glass; Joseph R Siebert; Peter J Strouse; Melissa A Parisi; Dennis W W Shaw; Phillip F Chance; Mason Barr; David Nyberg
Journal:  Prenat Diagn       Date:  2005-06       Impact factor: 3.050

6.  Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.

Authors:  B L Maria; R G Quisling; L C Rosainz; A T Yachnis; J Gitten; D Dede; E Fennell
Journal:  J Child Neurol       Date:  1999-06       Impact factor: 1.987

7.  Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome.

Authors:  R G Quisling; A J Barkovich; B L Maria
Journal:  J Child Neurol       Date:  1999-10       Impact factor: 1.987

8.  Analysis and classification of cerebellar malformations.

Authors:  Sandeep Patel; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-08       Impact factor: 3.825

9.  Joubert syndrome: a clinico-radiological study.

Authors:  B Kendall; D Kingsley; S R Lambert; D Taylor; P Finn
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

10.  Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

Authors:  S Romano; N Boddaert; I Desguerre; L Hubert; R Salomon; D Seidenwurm; N Bahi-Buisson; R Nabbout; P Sonigo; S Lyonnet; F Brunelle; A Munnich; P de Lonlay
Journal:  Neuropediatrics       Date:  2006-02       Impact factor: 1.947
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  10 in total

1.  Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.

Authors:  Inês Salva; Carolina Albuquerque; Ana Moreira; Catarina Dâmaso
Journal:  BMJ Case Rep       Date:  2016-01-12

2.  Joubert syndrome in a neonate: case report with literature review.

Authors:  Haifa A Bin Dahman; Abdul-Hakeem M Bin Mubaireek; Zain H Alhaddad
Journal:  Sudan J Paediatr       Date:  2016

3.  A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.

Authors:  Mitesh Shetty; Nimmy Ramdas; Shubhi Sahni; Nandita Mullapudi; Sridevi Hegde
Journal:  Mol Syndromol       Date:  2017-09-08

4.  Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report.

Authors:  Ali Al-Smair; Sara Younes; Osama Saadeh; Ahmad Saadeh; Ahmad Al-Ali
Journal:  Cureus       Date:  2022-04-18

5.  A report of Joubert syndrome in an infant, with literature review.

Authors:  Paramdeep Singh; Jatinder S Goraya; Kavita Saggar; Archana Ahluwalia
Journal:  J Pediatr Neurosci       Date:  2011-01

6.  Joubert syndrome with autism in two siblings: A rare presentation.

Authors:  D Vijaya Raghavan; V Vimal Doshi; Shanthi Nambi
Journal:  Indian J Psychiatry       Date:  2016 Jan-Mar       Impact factor: 1.759

7.  Joubert Syndrome Presenting With Oculomotor Apraxia and Motor Developmental Delay: A Case Report From a Neuro-Ophthalmology Clinic in Saudi Arabia.

Authors:  Rahaf A Mandura; Nawal A Arishi
Journal:  Cureus       Date:  2022-01-26

8.  Joubert-Plus syndrome with an atretic cephalocele: a case report.

Authors:  Ali Al-Smair; Sara Younes; Ahmad Saadeh; Abdel Rahman Kaoukji; Osama Jaber
Journal:  Radiol Case Rep       Date:  2022-07-30

9.  Joubert syndrome: the molar tooth sign of the mid-brain.

Authors:  C Nag; M Ghosh; K Das; Tn Ghosh
Journal:  Ann Med Health Sci Res       Date:  2013-04

10.  Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.

Authors:  Özge İpek; Özge Akyolcu; Banu Bayar
Journal:  Case Rep Pediatr       Date:  2017-08-23
  10 in total

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