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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with midbrain and hindbrain malformations"
Page 1
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.
Doherty D, Millen KJ, Barkovich AJ. Doherty D, et al. Lancet Neurol. 2013 Apr;12(4):381-93. doi: 10.1016/S1474-4422(13)70024-3. Epub 2013 Mar 18. Lancet Neurol. 2013. PMID: 23518331 Free PMC article. Review.
Historically, the midbrain and hindbrain have been considered of secondary importance to the cerebrum, which has typically been acknowledged as the most important part of the brain. ...With recent developments in neuroimaging, neuropathology, and neurogenetics, many …
Historically, the midbrain and hindbrain have been considered of secondary importance to the cerebrum, which has typically bee …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on br …
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes …
Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.
Goulart LC, Ferreira-Filho LA, da Silva MM, Carneiro ISB, Carneiro SS, Vilela-Filho O. Goulart LC, et al. Childs Nerv Syst. 2021 Oct;37(10):3257-3260. doi: 10.1007/s00381-020-04989-6. Epub 2021 Jan 6. Childs Nerv Syst. 2021. PMID: 33404715 Review.
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. ...Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and ce …
INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbid …
Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis.
Haratz KK, Shulevitz SL, Leibovitz Z, Lev D, Shalev J, Tomarkin M, Malinger G, Lerman-Sagie T, Gindes L. Haratz KK, et al. Ultrasound Obstet Gynecol. 2019 Mar;53(3):390-395. doi: 10.1002/uog.19034. Epub 2019 Jan 31. Ultrasound Obstet Gynecol. 2019. PMID: 29484745 Free article.
OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain (MB-HB) malformations relies primarily on abnormal size and shape of the cerebellum and retrocerebellar space, particularly 'open fourth ventricle' (4V), the most common indicator of MB-HB malformations …
OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain (MB-HB) malformations relies primarily on abnormal size and shape o …
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article. Review.
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and …
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. C …
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Ishak GE, et al. Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26. Brain. 2012. PMID: 22451504 Free PMC article.
Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. ...We demonstrate that the severity of rhombencephalosynapsis correlates with fusion of the tonsils, as well as midbrain …
Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebel …
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani Banaei A, Eshaghkhani Y, Golchehre Z, Keramatipour M. Karamzade A, et al. Mol Biol Rep. 2021 Jun;48(6):5339-5345. doi: 10.1007/s11033-021-06508-5. Epub 2021 Jun 30. Mol Biol Rep. 2021. PMID: 34191236 Review.
Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, neonatal respiratory disturbance and unique midbrain-hindbrain malformation, known as the molar toot …
Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnor …
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Ben-Omran T, et al. J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873735
BACKGROUND: Neuroanatomical defects are often present in children with severe developmental delay and intellectual disabilities. Few genetic loci have been associated with disorders of neurodevelopment. Our objective of the present study was to analyse a consanguineous Ara …
BACKGROUND: Neuroanatomical defects are often present in children with severe developmental delay and intellectual disabilities. Few genetic …
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Uehara T, et al. Am J Med Genet A. 2021 Jul;185(7):2084-2093. doi: 10.1002/ajmg.a.62226. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973697 Free PMC article.
Truncating variants or intragenic deletion of the NFIA gene are known to cause the human neurodevelopmental disorder known as NFIA-related disorder, but no patient heterozygous for a missense mutation has been reported. ...Ectopic expression of wild-type huma …
Truncating variants or intragenic deletion of the NFIA gene are known to cause the human neurodevelopmental disorder known as …
MR imaging of Joubert's syndrome.
Sener RN. Sener RN. Comput Med Imaging Graph. 1995 Nov-Dec;19(6):481-6. doi: 10.1016/0895-6111(96)00005-5. Comput Med Imaging Graph. 1995. PMID: 8796970
35 results