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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 1
1985 1
1989 1
1993 1
1999 1
2000 5
2001 1
2002 2
2003 3
2005 2
2006 2
2007 3
2009 2
2011 2
2014 2
2016 2
2017 1
2020 3
2021 2
2022 4
2024 0

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39 results

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Page 1
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
We identified a broad range of brain abnormalities including simplified cortical gyral pattern, full or partial callosal agenesis, increased extra-axial spaces, hypomyelination, cerebellar vermis hypoplasia, and enlarged cisterna magna. All probands had devel …
We identified a broad range of brain abnormalities including simplified cortical gyral pattern, full or partial callosal agenesis, increased …
Rotation of the vermis as a cause of enlarged cisterna magna on prenatal imaging.
Zalel Y, Gilboa Y, Gabis L, Ben-Sira L, Hoffman C, Wiener Y, Achiron R. Zalel Y, et al. Ultrasound Obstet Gynecol. 2006 May;27(5):490-3. doi: 10.1002/uog.2768. Ultrasound Obstet Gynecol. 2006. PMID: 16619381 Free article.
The aim of this study was to describe our experience with sagittal-plane prenatal ultrasound in the diagnosis of rotation of the vermis in cases of suspected enlarged cisterna magna on routine antenatal imaging, and to describe the follow-up of these patients …
The aim of this study was to describe our experience with sagittal-plane prenatal ultrasound in the diagnosis of rotation of the vermis in c …
Prenatal diagnosis of complete trisomy 19q.
Babić I, Brajenović-Milić B, Petrović O, Mustać E, Kapović M. Babić I, et al. Prenat Diagn. 2007 Jul;27(7):644-7. doi: 10.1002/pd.1742. Prenat Diagn. 2007. PMID: 17437325 Review.
GTG-banding, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific probe were used for identification of the fetal karyotype. Sonographic examination revealed an enlarged cisterna magna, cerebellar hypoplasia …
GTG-banding, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific probe were used for id …
Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study.
Hu T, Tian T, Zhang Z, Wang J, Hu R, Xiao L, Zhu H, Lai Y, Wang H, Liu S. Hu T, et al. Am J Obstet Gynecol. 2021 May;224(5):516.e1-516.e16. doi: 10.1016/j.ajog.2020.10.039. Epub 2020 Oct 26. Am J Obstet Gynecol. 2021. PMID: 33122027
The incidences of pathogenic copy number variants in fetuses with isolated echogenic intracardiac focus, enlarged cisterna magna, choroid plexus cysts, echogenic bowel, or single umbilical artery were lower than 1.5%. ...
The incidences of pathogenic copy number variants in fetuses with isolated echogenic intracardiac focus, enlarged cisterna …
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.
Horton-Bell M, Hamilton S, Keelagher R, Allen S, De Burca A, Ioannou C, Impey L, Cilliers D. Horton-Bell M, et al. Prenat Diagn. 2022 Nov;42(12):1481-1483. doi: 10.1002/pd.6249. Epub 2022 Oct 21. Prenat Diagn. 2022. PMID: 36217303
AIMS: A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna …
AIMS: A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple cen …
Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.
Sepulveda W, Sepulveda F. Sepulveda W, et al. J Matern Fetal Neonatal Med. 2022 Jul;35(14):2751-2758. doi: 10.1080/14767058.2020.1799349. Epub 2020 Jul 28. J Matern Fetal Neonatal Med. 2022. PMID: 32723018 Review.
Prenatal sonographic examination revealed hypoplasia of the left cerebellar hemisphere, hypoplasia of the cerebellar vermis, and enlarged cisterna magna (the "tilted telephone receiver sign"). Fetal MRI at 30 weeks confirmed the findings and also revealed an …
Prenatal sonographic examination revealed hypoplasia of the left cerebellar hemisphere, hypoplasia of the cerebellar vermis, and enlarged …
Open-aqueduct LOVA, LIAS, iNPH: a comparative clinical-radiological study exploring the "grey zone" between different forms of chronic adulthood hydrocephalus.
Palandri G, Carretta A, La Corte E, Giannini G, Martinoni M, Mantovani P, Albini-Riccioli L, Tonon C, Mazzatenta D, Elder BD, Conti A. Palandri G, et al. Acta Neurochir (Wien). 2022 Jul;164(7):1777-1788. doi: 10.1007/s00701-022-05215-9. Epub 2022 Apr 27. Acta Neurochir (Wien). 2022. PMID: 35477816 Free PMC article.
RESULTS: In total, 105 patients were included: 18 with LOVA, 23 with LIAS and 64 with iNPH. On multivariate analysis, an enlarged cisterna magna and a more severe ventriculomegaly were associated with the diagnosis of LOVA, while an older age and DESH with iN …
RESULTS: In total, 105 patients were included: 18 with LOVA, 23 with LIAS and 64 with iNPH. On multivariate analysis, an enlarged …
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D. Doherty D, et al. Prenat Diagn. 2005 Jun;25(6):442-7. doi: 10.1002/pd.1145. Prenat Diagn. 2005. PMID: 15966043 Review.
RESULTS: While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation. ...
RESULTS: While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid …
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.
Lei T, Feng JL, Xie YJ, Xie HN, Zheng J, Lin MF. Lei T, et al. Prenat Diagn. 2017 Nov;37(11):1160-1168. doi: 10.1002/pd.5159. Epub 2017 Oct 23. Prenat Diagn. 2017. PMID: 28940600
RESULTS: Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosom …
RESULTS: Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, e …
Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study.
de Fatima Vasco Aragao M, van der Linden V, Brainer-Lima AM, Coeli RR, Rocha MA, Sobral da Silva P, Durce Costa Gomes de Carvalho M, van der Linden A, Cesario de Holanda A, Valenca MM. de Fatima Vasco Aragao M, et al. BMJ. 2016 Apr 13;353:i1901. doi: 10.1136/bmj.i1901. BMJ. 2016. PMID: 27075009 Free PMC article.
Of the eight children who underwent MRI, all had calcifications in the junction between cortical and subcortical white matter, malformations of cortical development occurring predominantly in the frontal lobes, and ventriculomegaly. Seven of the eight (88%) children had enlarg …
Of the eight children who underwent MRI, all had calcifications in the junction between cortical and subcortical white matter, malformations …
39 results