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Quoted phrase not found in phrase index: "Molar tooth sign on MRI"
Page 1
Diagnostic Approach to Cerebellar Hypoplasia.
Accogli A, Addour-Boudrahem N, Srour M. Accogli A, et al. Cerebellum. 2021 Aug;20(4):631-658. doi: 10.1007/s12311-020-01224-5. Epub 2021 Feb 3. Cerebellum. 2021. PMID: 33534089 Review.
Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.
Poretti A, Boltshauser E, Huisman TAGM. Poretti A, et al. Cerebellum. 2016 Feb;15(1):5-9. doi: 10.1007/s12311-015-0699-z. Cerebellum. 2016. PMID: 26166429 Review.
The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. Starting from 19 to 20 weeks of gestation, prenatal magnetic resonance imaging (MRI) can …
The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malforma …
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E. Valente EM, et al. Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Handb Clin Neurol. 2013. PMID: 23622411 Review.
Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental dela …
Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the m …
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K. Schröder S, et al. Orphanet J Rare Dis. 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. Orphanet J Rare Dis. 2023. PMID: 37131188 Free PMC article.
Thorough re-evaluation of the neuroimaging features of these 21 subjects revealed a previously not recognized molar tooth sign (MTS) in 11 of them, thus leading to a diagnostic reassignment as Joubert syndrome (JBTS). Specific MRI features in two furth …
Thorough re-evaluation of the neuroimaging features of these 21 subjects revealed a previously not recognized molar tooth s …
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. Penon-Portmann M, et al. Am J Med Genet A. 2022 Aug;188(8):2360-2366. doi: 10.1002/ajmg.a.62872. Epub 2022 Jun 25. Am J Med Genet A. 2022. PMID: 35751429 Free PMC article.
Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. ...The first individual is a female with history of unilateral postaxial polydactyly, clas …
Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain …
Early second-trimester molar tooth sign.
Shen O, Ben-Sira L, Rosenak D, Michaelson-Cohen R. Shen O, et al. Fetal Diagn Ther. 2014;36(3):259-62. doi: 10.1159/000358594. Epub 2014 May 28. Fetal Diagn Ther. 2014. PMID: 24903086
Molar tooth sign (MTS) is pathognomonic for Joubert syndrome (JS) and related disorders. We report a case in which MTS was suspected in an 'at risk' patient at 16 weeks' gestation by sonography and at 18 weeks by additional ultrasound. It was then confirmed a …
Molar tooth sign (MTS) is pathognomonic for Joubert syndrome (JS) and related disorders. We report a case in which MTS …
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E. Maria BL, et al. J Child Neurol. 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. J Child Neurol. 1999. PMID: 10385844 Clinical Trial.
In this study, we obtained clinical and developmental data in 61 cases, and radiologic data in 46 of these, to determine the prevalence of the molar tooth sign in a large sample, and to ensure that magnetic resonance images obtained for study we …
In this study, we obtained clinical and developmental data in 61 cases, and radiologic data in 46 of these, to determine the prevalence of t …
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA. Parisi MA. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876931 Free PMC article. Review.
The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and …
The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging …
Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.
Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H. Pugash D, et al. Ultrasound Obstet Gynecol. 2011 Nov;38(5):598-602. doi: 10.1002/uog.8979. Ultrasound Obstet Gynecol. 2011. PMID: 21370303 Free article.
The characteristic imaging finding common to Joubert syndrome and related disorders is the 'molar tooth' sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in fa …
The characteristic imaging finding common to Joubert syndrome and related disorders is the 'molar tooth' sign. T …
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T. Gafner M, et al. AJNR Am J Neuroradiol. 2023 Mar;44(3):334-340. doi: 10.3174/ajnr.A7805. Epub 2023 Feb 23. AJNR Am J Neuroradiol. 2023. PMID: 36822823 Free PMC article. Review.
Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth sign, and agenesis of the corpus callosum. Systemic findings included the following: polydactyly, hallux valgus, large ears, and coars …
Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth …
113 results