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1976 1
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1995 1
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1998 3
2000 3
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2002 4
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2005 3
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54 results

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Page 1
Prenatal diagnosis of holoprosencephaly.
Kousa YA, du Plessis AJ, Vezina G. Kousa YA, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):206-213. doi: 10.1002/ajmg.c.31618. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770996 Review.
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. ...Using an advanced MRI protocol and a 1.5-Tesla magnet, we show radiographic data diagnostic for the holoprosencep
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral
Teratogenesis of holoprosencephaly.
Cohen MM Jr, Shiota K. Cohen MM Jr, et al. Am J Med Genet. 2002 Apr 15;109(1):1-15. doi: 10.1002/ajmg.10258. Am J Med Genet. 2002. PMID: 11932986 Review.
Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutat …
Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by fo …
Neurosonoembryology by three-dimensional ultrasound.
Pooh RK. Pooh RK. Semin Fetal Neonatal Med. 2012 Oct;17(5):261-8. doi: 10.1016/j.siny.2012.05.008. Epub 2012 Jul 15. Semin Fetal Neonatal Med. 2012. PMID: 22800609 Review.
Three-dimensional ultrasound has facilitated increasingly accurate and objective prenatal diagnoses of cranium bifidum/spina bifida, holoprosencephaly and associated anomalies in the first trimester and may allow detection of pathologic central nervous system (CNS) develop …
Three-dimensional ultrasound has facilitated increasingly accurate and objective prenatal diagnoses of cranium bifidum/spina bifida, holo
Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series.
Tavano I, De Keersmaecker B, Aertsen M, De Catte L. Tavano I, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(25):4976-4984. doi: 10.1080/14767058.2021.1873942. Epub 2021 Jan 17. J Matern Fetal Neonatal Med. 2022. PMID: 33455493 Review.
OBJECTIVE: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage disorder. ...Frequent association with ZIC2 mutation was found in nearly 50% of the cases (5/11) compared with one case in our series. CO …
OBJECTIVE: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage diso …
[MRI and CT in the diagnosis of epilepsy].
Takanashi J. Takanashi J. Nihon Rinsho. 2014 May;72(5):819-26. Nihon Rinsho. 2014. PMID: 24912281 Review. Japanese.
In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a reversible splenial lesion), and lesions causing epilepsy and seizures, such as congenital abnormality of the brain (holoprosencephaly
In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a …
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.
Ventricular anomalies include aqueductal stenosis. Midline disorders include those on the spectrum of holoprosencephaly, agenesis of the corpus callosum, and septo-optic dysplasia. ...
Ventricular anomalies include aqueductal stenosis. Midline disorders include those on the spectrum of holoprosencephaly, agenesis of …
Holoprosencephaly.
Peebles DM. Peebles DM. Prenat Diagn. 1998 May;18(5):477-80. Prenat Diagn. 1998. PMID: 9621381 Review. No abstract available.
Epidemiology of holoprosencephaly: Prevalence and risk factors.
Orioli IM, Castilla EE. Orioli IM, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):13-21. doi: 10.1002/ajmg.c.30233. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104599 Review.
The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. ...Non-craniofacial anomalies, more frequently associated with HPE than expected, were genital a …
The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute …
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC, Dattani MT. Gregory LC, et al. J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz184. doi: 10.1210/clinem/dgz184. J Clin Endocrinol Metab. 2020. PMID: 31702014 Review.
CONTEXT: Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the 6 anterior pituitary (AP) hormones secreted from the 5 different specialized cell types of the AP. During human embryogenesis, hypothalamo-pituitary (HP) develop …
CONTEXT: Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the 6 anterior pituitary (AP) ho …
54 results