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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
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
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 …
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 Free article. Review.
OBJECTIVE: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage disorder. In literature, few cases of accurate prenatal diagnosis have been reported. ...Frequent association with ZIC2 mutation was found in ne …
OBJECTIVE: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage diso …
Holoprosencephaly.
Peebles DM. Peebles DM. Prenat Diagn. 1998 May;18(5):477-80. Prenat Diagn. 1998. PMID: 9621381 Review. No abstract available.
Holoprosencephaly: recent advances and new insights.
Kinsman SL, Plawner LL, Hahn JS. Kinsman SL, et al. Curr Opin Neurol. 2000 Apr;13(2):127-32. doi: 10.1097/00019052-200004000-00003. Curr Opin Neurol. 2000. PMID: 10987568 Review.
Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100,000 live births. ...This is particularly evident in the group of complex midline malformations known as holoprosencephaly. Although new molecular findings have shed light on som
Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100,000 live births. ...This is particularly evi
[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 …
Development of the facial midline.
Carstens MH. Carstens MH. J Craniofac Surg. 2002 Jan;13(1):129-87; discussion 188-90. doi: 10.1097/00001665-200201000-00032. J Craniofac Surg. 2002. PMID: 11887012 Review.
These experiments relate the nasal placode to the structures of the A fields. (5) Separate regions of the original nasal placodes give rise to neurons, which are dedicated to separate sensory and endocrine systems. The A fields constitute the pathways by which these neuron …
These experiments relate the nasal placode to the structures of the A fields. (5) Separate regions of the original nasal placodes giv …
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. High lethality during the early stages of embryonic and fetal development makes HPE detection ag …
The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute …
54 results