Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1985 1
1988 1
1990 1
2003 1
2006 1
2007 2
2009 1
2010 1
2013 1
2014 1
2020 2
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
Agenesis of the septum pellucidum: Prenatal diagnosis and outcome.
Borkowski-Tillman T, Garcia-Rodriguez R, Viñals F, Branco M, Kradjen-Haratz K, Ben-Sira L, Lerman-Sagie T, Malinger G. Borkowski-Tillman T, et al. Prenat Diagn. 2020 May;40(6):674-680. doi: 10.1002/pd.5663. Epub 2020 Mar 31. Prenat Diagn. 2020. PMID: 32037567
Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Poretti A, Boltshauser E, Doherty D. Poretti A, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):211-26. doi: 10.1002/ajmg.c.31398. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839100
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. ...Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficienc …
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging findin …
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. Taiwan J Obstet Gynecol. 2007. PMID: 17389183 Free article. Review.
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. ...
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasi …
Prenatal diagnosis of Fukuyama congenital muscular dystrophy.
Saito K. Saito K. Prenat Diagn. 2006 May;26(5):415-7. doi: 10.1002/pd.1426. Prenat Diagn. 2006. PMID: 16570239 Review.
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dys …
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal …
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.
Cater SW, Boyd BK, Ghate SV. Cater SW, et al. Radiographics. 2020 Sep-Oct;40(5):1458-1472. doi: 10.1148/rg.2020200034. Epub 2020 Jul 24. Radiographics. 2020. PMID: 32706613 Review.
Essential elements surveyed in the head and neck include the lateral cerebral ventricles, choroid plexus, midline falx, cavum septi pellucidi, cerebellum, cisterna magna, upper lip, and nuchal fold. CNS abnormalities can be organized into six main categories at prenatal US …
Essential elements surveyed in the head and neck include the lateral cerebral ventricles, choroid plexus, midline falx, cavum septi pellucid …
Hydrocortisone treatment for bronchopulmonary dysplasia and brain volumes in preterm infants.
Kersbergen KJ, de Vries LS, van Kooij BJ, Išgum I, Rademaker KJ, van Bel F, Hüppi PS, Dubois J, Groenendaal F, Benders MJ. Kersbergen KJ, et al. J Pediatr. 2013 Sep;163(3):666-71.e1. doi: 10.1016/j.jpeds.2013.04.001. Epub 2013 May 21. J Pediatr. 2013. PMID: 23706359 Free article.
OBJECTIVE: To assess whether there was an adverse effect on brain growth after hydrocortisone (HC) treatment for bronchopulmonary dysplasia (BPD) in a large cohort of infants without dexamethasone exposure. ...After correction for gestational age, postmenstrual age at time …
OBJECTIVE: To assess whether there was an adverse effect on brain growth after hydrocortisone (HC) treatment for bronchopulmonary dysplas …
Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S. Zhao Q, et al. Mol Genet Genomic Med. 2023 Mar;11(3):e2124. doi: 10.1002/mgg3.2124. Epub 2022 Dec 20. Mol Genet Genomic Med. 2023. PMID: 36538006 Free PMC article.
BACKGROUND: Short-rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrome can manifest cerebellar malformation and variable developmental delays. ...More intensive fetal monitoring was applied, and …
BACKGROUND: Short-rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either …
Dandy-Walker malformation: prenatal diagnosis and prognosis.
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Klein O, et al. Childs Nerv Syst. 2003 Aug;19(7-8):484-9. doi: 10.1007/s00381-003-0782-5. Epub 2003 Jul 16. Childs Nerv Syst. 2003. PMID: 12879343
We limited the diagnosis of DWM to those malformations with all of the following features: 1) a large median posterior fossa cyst widely communicating with the fourth ventricle, 2) a small, rotated, raised cerebellar vermis, 3) an upwardly displaced tentorium, 4) an enlarg …
We limited the diagnosis of DWM to those malformations with all of the following features: 1) a large median posterior fossa cyst widely com …
Meckel-Gruber syndrome. Importance of prenatal diagnosis.
Nyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D. Nyberg DA, et al. J Ultrasound Med. 1990 Dec;9(12):691-6. doi: 10.7863/jum.1990.9.12.691. J Ultrasound Med. 1990. PMID: 2277397
The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. ...Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa …
The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all …
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Striano P, et al. Epilepsia. 2007 Jun;48(6):1092-6. doi: 10.1111/j.1528-1167.2007.01020.x. Epub 2007 Mar 22. Epilepsia. 2007. PMID: 17381446 Free article.
Eight patients showed cortical brain atrophy of which 3 associated to ventricles abnormalities, 1 to cerebellar atrophy, 1 to white matter hyperintensity; 3 patients had ventricles enlargement only; 1 patient showed hippocampal sclerosis (HS); 1 had focal cortical dyspl …
Eight patients showed cortical brain atrophy of which 3 associated to ventricles abnormalities, 1 to cerebellar atrophy, 1 to white m …
14 results