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

Year Number of Results
1969 1
1975 1
1981 1
1984 2
1985 1
1986 1
1987 2
1988 1
1989 4
1990 3
1991 2
1992 1
1993 3
1994 4
1995 5
1996 3
1997 4
1998 5
1999 4
2000 8
2001 5
2002 4
2003 5
2004 3
2005 7
2006 3
2007 9
2008 11
2009 14
2010 7
2011 8
2012 7
2013 10
2014 14
2015 10
2016 7
2017 6
2018 17
2019 9
2020 8
2021 13
2022 6
2023 5

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223 results

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Page 1
First-trimester fetal neurosonography: technique and diagnostic potential.
Volpe N, Dall'Asta A, Di Pasquo E, Frusca T, Ghi T. Volpe N, et al. Ultrasound Obstet Gynecol. 2021 Feb;57(2):204-214. doi: 10.1002/uog.23149. Ultrasound Obstet Gynecol. 2021. PMID: 33049801 Free article. Review.
Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. ...The aim of this review article is to describe how best to assess the normal fetal brain by first-trimester expert multiplanar neurosonography an …
Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. ...The aim of …
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.
Markovic I, Bosnjakovic P, Milenkovic Z. Markovic I, et al. Curr Pediatr Rev. 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. Curr Pediatr Rev. 2020. PMID: 31656152 Free PMC article. Review.
AIMS: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. BACKGROUND: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect
AIMS: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. …
Pathophysiology of bradykinesia in Parkinson's disease.
Berardelli A, Rothwell JC, Thompson PD, Hallett M. Berardelli A, et al. Brain. 2001 Nov;124(Pt 11):2131-46. doi: 10.1093/brain/124.11.2131. Brain. 2001. PMID: 11673316 Review.
Bradykinesia means slowness of movement and is one of the cardinal manifestations of Parkinson's disease. Weakness, tremor and rigidity may contribute to but do not fully explain bradykinesia. ...Movements are often performed with normally timed EMG bursts but the amount o …
Bradykinesia means slowness of movement and is one of the cardinal manifestations of Parkinson's disease. Weakness, tremor and rigidi …
Delineating septo-optic dysplasia.
Lubinsky M, Encha-Razavi F. Lubinsky M, et al. Birth Defects Res. 2022 Dec 1;114(20):1343-1353. doi: 10.1002/bdr2.2095. Epub 2022 Oct 6. Birth Defects Res. 2022. PMID: 36200678 Review.
Limbic extensions may also contribute to the same structural defects as by-products. Midline CNS developmental anomalies can act as disruptive foci, most likely through vascular variants, but have separate pathogenesis. Relative frequencies of specific pituit …
Limbic extensions may also contribute to the same structural defects as by-products. Midline CNS developmental anomalie …
Pituitary stalk interruption syndrome.
Voutetakis A. Voutetakis A. Handb Clin Neurol. 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. Handb Clin Neurol. 2021. PMID: 34238482 Review.
Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic resonance imaging and characterized by a thin, interrupted, attenuated or absent pituitary stalk, hypoplasia or aplasia of the adenohypophys …
Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic …
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Recent advances in prenatal imaging have resulted in an increasing rate of prenatal diagnosis of abnormalities of the posterior fossa including rhombencephalosynapsis. Patients with rhombencephalosynapsis may present with motor developmental delay, ataxia, swallowin …
Recent advances in prenatal imaging have resulted in an increasing rate of prenatal diagnosis of abnormalities of the posterior fossa …
Septo-optic dysplasia.
Fard MA, Wu-Chen WY, Man BL, Miller NR. Fard MA, et al. Pediatr Endocrinol Rev. 2010 Sep;8(1):18-24. Pediatr Endocrinol Rev. 2010. PMID: 21037540 Review.
Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. ...The cl …
Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects includi …
Neuroradiological findings in Alagille syndrome.
D'Amico A, Perillo T, Cuocolo R, Ugga L, Di Dato F, Caranci F, Iorio R. D'Amico A, et al. Br J Radiol. 2022 Jan 1;95(1129):20201241. doi: 10.1259/bjr.20201241. Epub 2021 Oct 5. Br J Radiol. 2022. PMID: 34609904 Free PMC article. Review.
Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal a …
Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differenti …
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Dubourg C, et al. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Orphanet J Rare Dis. 2007. PMID: 17274816 Free PMC article. Review.
In most of the cases, facial anomalies are observed in HPE, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur withou …
In most of the cases, facial anomalies are observed in HPE, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, …
Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.
Martinez AF, Kruszka PS, Muenke M. Martinez AF, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):246-257. doi: 10.1002/ajmg.c.31616. Epub 2018 May 15. Am J Med Genet C Semin Med Genet. 2018. PMID: 29761634 Free PMC article. Review.
Likely, a complex network of interacting genetic variants and environmental factors is responsible for these systemic abnormalities that deviate from the usual brain and craniofacial findings in NCNS-HPE. In addition to the systemic consequences of pituitary dysfunc …
Likely, a complex network of interacting genetic variants and environmental factors is responsible for these systemic abnormalities t …
223 results