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Year Number of Results
1998 1
1999 1
2000 2
2001 1
2003 2
2008 1
2010 3
2011 2
2012 1
2013 1
2014 1
2015 1
2018 2
2019 1
2021 2
2022 3
2023 3
2024 0

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26 results

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Page 1
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.
Mustafa HJ, Sambatur EV, Barbera JP, Pagani G, Yaron Y, Baptiste CD, Wapner RJ, Khalil A. Mustafa HJ, et al. Am J Obstet Gynecol MFM. 2023 Sep;5(9):101048. doi: 10.1016/j.ajogmf.2023.101048. Epub 2023 Jun 11. Am J Obstet Gynecol MFM. 2023. PMID: 37311485 Review.
The incremental diagnostic yield of exome sequencing was assessed for pathogenic/likely pathogenic findings in cases of: (1) all severe ventriculomegaly; (2) isolated severe ventriculomegaly (as the only cranial anomaly); (3) severe ventriculomegaly with other crani …
The incremental diagnostic yield of exome sequencing was assessed for pathogenic/likely pathogenic findings in cases of: (1) all severe vent …
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
De Catte L, De Keersmaeker B, Claus F. De Catte L, et al. Paediatr Drugs. 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. Paediatr Drugs. 2012. PMID: 22242843 Review.
Sonographic guidelines for screening the fetal brain in a systematic way may increase the detection rate of fetal CNS anomalies, thus promoting correct referral to tertiary care centers offering patients a multidisciplinary approach to the condition. ...If pr …
Sonographic guidelines for screening the fetal brain in a systematic way may increase the detection rate of fetal CNS anomalies
Outcome of fetuses with prenatal diagnosis of isolated severe bilateral ventriculomegaly: systematic review and meta-analysis.
Carta S, Kaelin Agten A, Belcaro C, Bhide A. Carta S, et al. Ultrasound Obstet Gynecol. 2018 Aug;52(2):165-173. doi: 10.1002/uog.19038. Ultrasound Obstet Gynecol. 2018. PMID: 29484752 Free article. Review.
Survival was reported in 95/110 (pooled proportion 87.9% (95% CI, 75.6-96.2%)) cases. In 15/110 (pooled proportion 12.1% (95% CI, 3.8-24.4%)), either stillbirth or neonatal demise was reported. ...Given that many cases undergo termination of pregnancy and require longer fo …
Survival was reported in 95/110 (pooled proportion 87.9% (95% CI, 75.6-96.2%)) cases. In 15/110 (pooled proportion 12.1% (95% CI, 3.8 …
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C. Chanclud J, et al. Pediatr Radiol. 2023 Mar;53(3):461-469. doi: 10.1007/s00247-022-05531-3. Epub 2022 Oct 24. Pediatr Radiol. 2023. PMID: 36274068
The vermis and other posterior fossa structures were otherwise normal. At postnatal imaging, 13 children underwent brain imaging including 11 MRIs with complete regression (n=9), stability (n=1) and increase in size (n=3) of the cyst. ...
The vermis and other posterior fossa structures were otherwise normal. At postnatal imaging, 13 children underwent brain imaging incl …
Assessment of the prevalence and associated risk factors of pediatric hydrocephalus in diagnostic centers in Addis Ababa, Ethiopia.
Mulugeta B, Seyoum G, Mekonnen A, Ketema E. Mulugeta B, et al. BMC Pediatr. 2022 Mar 18;22(1):145. doi: 10.1186/s12887-022-03212-6. BMC Pediatr. 2022. PMID: 35303805 Free PMC article.
BACKGROUND: Hydrocephalus (HCP) is a common disorder of cerebral spinal fluid (CSF) physiology resulting in abnormal expansion of the cerebral ventricles. ...RESULT: The retrospective study included 639(58%) males and 462 (42%) females. The mean age calculated was 22.3
BACKGROUND: Hydrocephalus (HCP) is a common disorder of cerebral spinal fluid (CSF) physiology resulting in abnormal expansion of the …
Diagnosis and management of cephaloceles.
Alexiou GA, Sfakianos G, Prodromou N. Alexiou GA, et al. J Craniofac Surg. 2010 Sep;21(5):1581-2. doi: 10.1097/SCS.0b013e3181edc3f6. J Craniofac Surg. 2010. PMID: 20818248
In 19 cases (70%), the sac contained gliotic brain (encephaloceles) that was excised. All patients were operated on in 1 surgical procedure. Hydrocephalus was found in 16 patients and treated with a ventriculoperitoneal shunt insertion. ...
In 19 cases (70%), the sac contained gliotic brain (encephaloceles) that was excised. All patients were operated on in 1 surgical pro …
Risk factors for Dandy-Walker malformation: a population-based assessment.
Reeder MR, Botto LD, Keppler-Noreuil KM, Carey JC, Byrne JL, Feldkamp ML; National Birth Defects Prevention Study. Reeder MR, et al. Am J Med Genet A. 2015 Sep;167A(9):2009-16. doi: 10.1002/ajmg.a.37124. Epub 2015 May 1. Am J Med Genet A. 2015. PMID: 25941000
Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. ...Maternal factors associated with DWM included non-Hispanic black race/ethnicity (aOR = 2.0, 95%CI: 1.3-3.2). Among maternal co …
Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. ... …
Clinical Factors, Management, and Outcomes of Patients Under 18 Years Old With Central Nervous System Tumors: Single-center Experience in Peru.
Pascual Morales C, Vasquez Ponce L, Hernandez Briceño J, Leon Lopez E, Guevara Guevara J, Jimenez Vargas J, Diaz Coronado R, Flores JD, Lazon Ayala M. Pascual Morales C, et al. J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e345-e349. doi: 10.1097/MPH.0000000000002563. Epub 2022 Sep 29. J Pediatr Hematol Oncol. 2023. PMID: 36731067
We retrospectively reviewed such data in all cases of patients younger than 18 years with brain tumors diagnosed in a single tertiary care center in Peru from 2007 through 2017. ...The main clinical symptoms were headache, vomiting, difficulty walking, and visual di …
We retrospectively reviewed such data in all cases of patients younger than 18 years with brain tumors diagnosed in a single tertiary …
Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).
Yamasaki M, Nonaka M, Suzumori N, Nakamura H, Fujita H, Namba A, Kamei Y, Yamada T, Pooh RK, Tanemura M, Sudo N, Nagasaka M, Yoshioka E, Shofuda T, Kanemura Y. Yamasaki M, et al. J Neurosurg Pediatr. 2011 Oct;8(4):411-6. doi: 10.3171/2011.7.PEDS10531. J Neurosurg Pediatr. 2011. PMID: 21961551
The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pre …
The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 f …
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.
Zou Z, Huang L, Lin S, He Z, Zhu H, Zhang Y, Fang Q, Luo Y. Zou Z, et al. Prenat Diagn. 2018 Jan;38(2):91-98. doi: 10.1002/pd.5190. Epub 2018 Jan 10. Prenat Diagn. 2018. PMID: 29171036
OBJECTIVE: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH). METHODS: This study involved 7 …
OBJECTIVE: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis ( …
26 results