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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"
Page 1
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F. D'Antonio F, et al. Pediatrics. 2016 Sep;138(3):e20160445. doi: 10.1542/peds.2016-0445. Pediatrics. 2016. PMID: 27581855 Review.
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. ...STUDY SELECTION: Studies reporting a pre …
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVE …
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defined. ... …
BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures …
Effect of corpus callosum agenesis on the language network in children and adolescents.
Bartha-Doering L, Schwartz E, Kollndorfer K, Fischmeister FPS, Novak A, Langs G, Werneck H, Prayer D, Seidl R, Kasprian G. Bartha-Doering L, et al. Brain Struct Funct. 2021 Apr;226(3):701-713. doi: 10.1007/s00429-020-02203-6. Epub 2021 Jan 26. Brain Struct Funct. 2021. PMID: 33496825 Free PMC article.
The present study is interested in the role of the corpus callosum in the development of the language network. We, therefore, investigated language abilities and the language network using task-based fMRI in three cases of complete agenesis of …
The present study is interested in the role of the corpus callosum in the development of the language network. We, therefore, …
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C. Nguyen T, et al. Prenat Diagn. 2023 Jun;43(6):746-755. doi: 10.1002/pd.6382. Epub 2023 May 23. Prenat Diagn. 2023. PMID: 37173814
OBJECTIVE: Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to compare imaging phenotype and genotype findings. METHOD: This multicenter retrospective study included fetuses …
OBJECTIVE: Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The ob …
Partial Agenesis and Hypoplasia of the Corpus Callosum in Idiopathic Autism.
Wegiel J, Flory M, Kaczmarski W, Brown WT, Chadman K, Wisniewski T, Nowicki K, Kuchna I, Ma SY, Wegiel J. Wegiel J, et al. J Neuropathol Exp Neurol. 2017 Mar 1;76(3):225-237. doi: 10.1093/jnen/nlx003. J Neuropathol Exp Neurol. 2017. PMID: 28395085 Free PMC article.
In the brains of 3 autistic subjects, partial CC agenesis resulted in complete or partial lack of interhemispheric axonal connections in CC segments III-V. ...The significantly thinner CC, reduced CC area, and uniform axonal deficit in all autistic sub …
In the brains of 3 autistic subjects, partial CC agenesis resulted in complete or partial lack of interhemispher …
Demographic, ocular and associated neurological findings in corpus callosum malformations.
Kızıltunç PB, Şahlı E, İdil A, Atilla H. Kızıltunç PB, et al. Turk J Pediatr. 2021;63(2):291-299. doi: 10.24953/turkjped.2021.02.013. Turk J Pediatr. 2021. PMID: 33929119 Free article.
BACKGROUND: The corpus callosum is a primary commissural part of the brain which connects the two hemispheres. ...Patients were divided into 3 groups according to the severity of corpus callosum malformation on MRI (total agenesis, partial …
BACKGROUND: The corpus callosum is a primary commissural part of the brain which connects the two hemispheres. ...Patients wer …
Spectrum of corpus callosum agenesis.
Sztriha L. Sztriha L. Pediatr Neurol. 2005 Feb;32(2):94-101. doi: 10.1016/j.pediatrneurol.2004.09.007. Pediatr Neurol. 2005. PMID: 15664768
Eight children had agenesis of the corpus callosum without substantial involvement of other brain areas. ...In the third group, agenesis of the corpus callosum was a component of a syndrome in four children. .. …
Eight children had agenesis of the corpus callosum without substantial involvement of other brain areas. …
Detection of Fetal Corpus Callosum Abnormalities by Means of 3D Ultrasound.
Pashaj S, Merz E. Pashaj S, et al. Ultraschall Med. 2016 Apr;37(2):185-94. doi: 10.1055/s-0041-108565. Epub 2015 Nov 3. Ultraschall Med. 2016. PMID: 26529353
PURPOSE: The objective of this study was to prenatally detect corpus callosum pathologies such as agenesis, partial agenesis, hypo- and hyperplasia and enhanced echogenicity. ...All parameters were compared with normal growth charts. In all case …
PURPOSE: The objective of this study was to prenatally detect corpus callosum pathologies such as agenesis, partial …
Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.
Folliot-Le Doussal L, Chadie A, Brasseur-Daudruy M, Verspyck E, Saugier-Veber P, Marret S; Perinatal Network of Haute-Normandie. Folliot-Le Doussal L, et al. Early Hum Dev. 2018 Jan;116:9-16. doi: 10.1016/j.earlhumdev.2017.10.004. Epub 2017 Nov 5. Early Hum Dev. 2018. PMID: 29091783
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. ...A lower score in morphosyntax was observed among 52% of child …
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated wi …
Partial development of the corpus callosum.
Rubinstein D, Youngman V, Hise JH, Damiano TR. Rubinstein D, et al. AJNR Am J Neuroradiol. 1994 May;15(5):869-75. AJNR Am J Neuroradiol. 1994. PMID: 8059653 Free PMC article.
METHODS: The MR scans of 25 patients with callosal dysgenesis were reviewed to determine whether the observed corpus callosum corresponded to the form and position of a portion of a normal corpus callosum, as suggested by a theory of arrested gr …
METHODS: The MR scans of 25 patients with callosal dysgenesis were reviewed to determine whether the observed corpus callos …
116 results