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Literature DB >> 24731480

The molar tooth sign is pathognomonic for Joubert syndrome!

Andrea Poretti¹, Eugen Boltshauser², Enza Maria Valente³.

Abstract

Entities: Disease

Mesh：

Year: 2013 PMID： 24731480 DOI： 10.1016/j.pediatrneurol.2013.11.003

Source DB: PubMed Journal: Pediatr Neurol ISSN： 0887-8994 Impact factor: 3.372

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Cited

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11 in total

1. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Authors: R Bachmann-Gagescu; J C Dempsey; I G Phelps; B J O'Roak; D M Knutzen; T C Rue; G E Ishak; C R Isabella; N Gorden; J Adkins; E A Boyle; N de Lacy; D O'Day; A Alswaid; Radha Ramadevi A; L Lingappa; C Lourenço; L Martorell; À Garcia-Cazorla; H Ozyürek; G Haliloğlu; B Tuysuz; M Topçu; P Chance; M A Parisi; I A Glass; J Shendure; D Doherty
Journal: J Med Genet Date: 2015-06-19 Impact factor: 6.318

2. When is biopsy-proven TIN not simply TIN? Answers.

Authors: Nicholas Ware; Neil J Sebire; W K Chong; Rajesh Krishnan; Stephen D Marks
Journal: Pediatr Nephrol Date: 2016-10-07 Impact factor: 3.714

3. Joubert syndrome a rare entity and role of radiology: A case report.

Authors: Irfan Ullah; Kiran Shafiq Khan; Rifayat Ullah Afridi; Farida Shirazi; Irum Naz; Aneela Ambreen; Manjeet Singh; Muhammad Sohaib Asghar
Journal: Ann Med Surg (Lond) Date: 2022-06-30

4. Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Authors: Sarah Wente; Simone Schröder; Johannes Buckard; Hans-Martin Büttel; Florian von Deimling; Wilfried Diener; Martin Häussler; Susanne Hübschle; Silvia Kinder; Gerhard Kurlemann; Christoph Kretzschmar; Michael Lingen; Wiebke Maroske; Dirk Mundt; Iciar Sánchez-Albisua; Jürgen Seeger; Sandra P Toelle; Eugen Boltshauser; Knut Brockmann
Journal: Orphanet J Rare Dis Date: 2016-07-29 Impact factor: 4.123

5. Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review.

Authors: Farrokh Seylanian Toosi; Samineh Boloursaz; Bita Abbasi; Reza Hekmat; Reihaneh Mortazavi Ardestani; Mina Mohajerzadeh
Journal: J Renal Inj Prev Date: 2016-11-07

6. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Authors: Brian P Brooks; Wadih M Zein; Amy H Thompson; Maryam Mokhtarzadeh; Daniel A Doherty; Melissa Parisi; Ian A Glass; May C Malicdan; Thierry Vilboux; Meghana Vemulapalli; James C Mullikin; William A Gahl; Meral Gunay-Aygun
Journal: Ophthalmology Date: 2018-07-25 Impact factor: 12.079

7. The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.

Authors: Irene Ojeda Naharros; Flavia B Cristian; Jingjing Zang; Matthias Gesemann; Philip W Ingham; Stephan C F Neuhauss; Ruxandra Bachmann-Gagescu
Journal: Sci Rep Date: 2018-02-02 Impact factor: 4.379

8. Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.

Authors: Jingjing Xiang; Lili Zhang; Wei Jiang; Qin Zhang; Ting Wang; Haibo Li; Hong Li
Journal: Biomed Res Int Date: 2018-05-31 Impact factor: 3.411

9. Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Authors: Giulio Ruberto; Vincenzo Parisi; Chiara Bertone; Sabrina Signorini; Mauro Antonini; Enza Maria Valente; Federica Manzoni; Valentina Serpieri; Riccardo Fausto; Luciano Quaranta
Journal: Adv Ther Date: 2020-07-15 Impact factor: 3.845

10. Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.