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1968 1
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1982 4
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1985 8
1986 12
1987 5
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1989 14
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1996 27
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2007 68
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1,889 results

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Quoted phrase not found in phrase index: "Abnormal cerebellum morphology"
Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K. Whitehead MT, et al. AJNR Am J Neuroradiol. 2022 Oct;43(10):1488-1493. doi: 10.3174/ajnr.A7659. Epub 2022 Sep 22. AJNR Am J Neuroradiol. 2022. PMID: 36137655 Free PMC article.
BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cer …
BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnorma …
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA. Donovan AP, et al. J Anat. 2017 Jan;230(1):4-15. doi: 10.1111/joa.12542. Epub 2016 Sep 12. J Anat. 2017. PMID: 27620360 Free PMC article. Review.
Although these reports have been focused primarily on the presumed pathological anatomy, they are providing us with important insights into normal brain anatomy and are stimulating new ideas and hypotheses about the normal trajectory of brain development and the fun …
Although these reports have been focused primarily on the presumed pathological anatomy, they are providing us with important insight …
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. ...
BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, ab …
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders characterized by congenital or early-onset ataxia, but no progression or even improvement on follow-up. ...Patients with NPCA have a hi …
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders ch …
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Recent advances in prenatal imaging have resulted in an increasing rate of prenatal diagnosis of abnormalities of the posterior fossa including rhombencephalosynapsis. Patients with rhombencephalosynapsis may present with motor developmental delay, ataxia, swallowing diffi …
Recent advances in prenatal imaging have resulted in an increasing rate of prenatal diagnosis of abnormalities of the posterior fossa …
Congenital Malformations of Cerebellum.
Moosavi A, Kanekar S. Moosavi A, et al. Clin Perinatol. 2022 Sep;49(3):603-621. doi: 10.1016/j.clp.2022.04.003. Epub 2022 Aug 20. Clin Perinatol. 2022. PMID: 36113925 Review.
Advances in pre and postnatal neuroimaging techniques, and molecular genetics have increased our understanding of the congenital malformation of the brain. Correct diagnosis of these malformations in regards to embryology, and molecular neurogenetics is of paramount import …
Advances in pre and postnatal neuroimaging techniques, and molecular genetics have increased our understanding of the congenital malf …
Cerebellar injury in preterm infants.
Tam EWY. Tam EWY. Handb Clin Neurol. 2018;155:49-59. doi: 10.1016/B978-0-444-64189-2.00003-2. Handb Clin Neurol. 2018. PMID: 29891076 Review.
Although preterm birth is best known to result in adverse neurodevelopmental outcomes through injury of the supratentorial structures, including intraventricular hemorrhage and periventricular leukomalacia, the cerebellum has become increasingly recognized as an important …
Although preterm birth is best known to result in adverse neurodevelopmental outcomes through injury of the supratentorial structures, inclu …
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephron …
Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital …
1,889 results