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Page 1
Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
Cabet S, Putoux A, Lesca G, Lesage A, Massoud M, Guibaud L; Collaborators. Cabet S, et al. Ultrasound Obstet Gynecol. 2024 Feb;63(2):271-275. doi: 10.1002/uog.27450. Epub 2024 Jan 11. Ultrasound Obstet Gynecol. 2024. PMID: 37551048
In addition to imaging, genetic assessment may guide prenatal counseling, since the prenatal prognosis of MSG is different from that of both diffuse polymicrogyria and lissencephaly. 2023 The Authors. ...
In addition to imaging, genetic assessment may guide prenatal counseling, since the prenatal prognosis of MSG is different from that …
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.
Germanaud D, Lefèvre J, Fischer C, Bintner M, Curie A, des Portes V, Eliez S, Elmaleh-Bergès M, Lamblin D, Passemard S, Operto G, Schaer M, Verloes A, Toro R, Mangin JF, Hertz-Pannier L. Germanaud D, et al. Neuroimage. 2014 Nov 15;102 Pt 2:317-31. doi: 10.1016/j.neuroimage.2014.07.057. Epub 2014 Aug 6. Neuroimage. 2014. PMID: 25107856
We found the surface area reductions to be fully explained by scaling effect, leading to predictable folding intensities measured by gyrification indices. As for folding pattern assessed by spectral analysis, scaling effect also accounted for the majority of the variations …
We found the surface area reductions to be fully explained by scaling effect, leading to predictable folding intensities measured by …
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
In line with previous reports, this large cohort further clarifies overlapping phenotypes between tubulinopathies and although current structural data do not allow prediction of mutation-related phenotypes, within each mutated gene there is an associated predominant patter …
In line with previous reports, this large cohort further clarifies overlapping phenotypes between tubulinopathies and although current struc …
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Rasheed A, et al. J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439809 Free PMC article.
(Ala231Val) disrupt highly conserved residues of TTC5 within the fifth and sixth tetratricopeptide repeat motifs which are required for p300 interaction, while the nonsense variants are predicted to decrease TTC5 expression. Functional analysis of variant c.1883C>T;p... …
(Ala231Val) disrupt highly conserved residues of TTC5 within the fifth and sixth tetratricopeptide repeat motifs which are required for p300 …
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Sztriha L, Al-Gazali LI, Várady E, Goebel HH, Nork M. Sztriha L, et al. Neuropediatrics. 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479. Neuropediatrics. 1999. PMID: 10480209
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. ...
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. ...
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Wambach JA, et al. Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4. Pediatr Res. 2018. PMID: 29967526 Free PMC article.
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M. Accogli A, et al. Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28. Neurogenetics. 2019. PMID: 30924036
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Calame DG, et al. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385670 Free PMC article.
Brain abnormalities included simplified gyral pattern, underopercularization, and/or vermian hypoplasia. Molecular analysis identified three pathogenic NSRP1 predicted loss-of-function variant alleles: c.1359_1362delAAAG (p.Glu455AlafsTer20), c.1272dupG (p.Lys425GlufsTer5) …
Brain abnormalities included simplified gyral pattern, underopercularization, and/or vermian hypoplasia. Molecular analysis identified three …
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