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Page 1
Holoprosencephaly.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B13-B16. doi: 10.1016/j.ajog.2020.08.178. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168217 Review. No abstract available.
Pathogenesis of holoprosencephaly.
Geng X, Oliver G. Geng X, et al. J Clin Invest. 2009 Jun;119(6):1403-13. doi: 10.1172/JCI38937. Epub 2009 Jun 1. J Clin Invest. 2009. PMID: 19487816 Free PMC article. Review.
Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. ...
Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. ...
Holoprosencephaly: a guide to diagnosis and clinical management.
Raam MS, Solomon BD, Muenke M. Raam MS, et al. Indian Pediatr. 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. Indian Pediatr. 2011. PMID: 21743112 Free PMC article. Review.
CONTEXT: Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing forebrain, resulting in facial dysmorphism, neurologic impairment, and additional clinical sequelae. ...EVIDENCE ACQUISITION: We used the PubMed database ( …
CONTEXT: Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing forebrain, resu …
Holoprosencephaly and septo-optic dysplasia.
Fitz CR. Fitz CR. Neuroimaging Clin N Am. 1994 May;4(2):263-81. Neuroimaging Clin N Am. 1994. PMID: 8081628 Review.
Holoprosencephaly is a rare brain anomaly, which may be seen in liveborn neonates, although it is more common in stillbirths and abortions. ...Primary imaging findings include optic nerve hypoplasia and absent septum pellucidum. Septo-optic dysplasia somewhat resembles lob
Holoprosencephaly is a rare brain anomaly, which may be seen in liveborn neonates, although it is more common in stillbirths and abor
Absent Cavum Septi Pellucidi.
Society for Maternal-Fetal Medicine (SMFM); Ward A, Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B23-B26. doi: 10.1016/j.ajog.2020.08.180. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168214 Review. No abstract available.
Pyriform aperture enlargement in all aspects.
Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C. Esen E, et al. J Laryngol Otol. 2017 Jun;131(6):476-479. doi: 10.1017/S0022215117000391. Epub 2017 Feb 27. J Laryngol Otol. 2017. PMID: 28238296 Review.
Pyriform aperture definition, nasal development, congenital nasal pyriform aperture stenosis and pyriform aperture enlargement were reviewed. RESULTS: One of the most common abnormalities is holoprosencephaly, which is a midline developmental deficiency that may also be pr …
Pyriform aperture definition, nasal development, congenital nasal pyriform aperture stenosis and pyriform aperture enlargement were reviewed …
Molecular genetics in fetal neurology.
Huang J, Wah IY, Pooh RK, Choy KW. Huang J, et al. Semin Fetal Neonatal Med. 2012 Dec;17(6):341-6. doi: 10.1016/j.siny.2012.07.007. Epub 2012 Aug 19. Semin Fetal Neonatal Med. 2012. PMID: 22909903 Review.
In this review, we update the molecular genetics findings of three common fetal neurological abnormalities, holoprosencephaly, lissencephaly and agenesis of the corpus callosum, in an attempt to assist in perinatal and prenatal diagnosis....
In this review, we update the molecular genetics findings of three common fetal neurological abnormalities, holoprosencephaly, lissen …
Genetic causes of isolated and combined pituitary hormone deficiency.
Giordano M. Giordano M. Best Pract Res Clin Endocrinol Metab. 2016 Dec;30(6):679-691. doi: 10.1016/j.beem.2016.09.005. Epub 2016 Oct 15. Best Pract Res Clin Endocrinol Metab. 2016. PMID: 27974184 Review.
Depending upon the expression patterns of these molecules, the phenotype may consist of isolated hypopituitarism, or more complex disorders such as septo-optic dysplasia (SOD) and holoprosencephaly. Although numerous monogenic causes of growth disorders have been identifie …
Depending upon the expression patterns of these molecules, the phenotype may consist of isolated hypopituitarism, or more complex disorders …
Holoprosencephaly: recommendations for diagnosis and management.
Kauvar EF, Muenke M. Kauvar EF, et al. Curr Opin Pediatr. 2010 Dec;22(6):687-95. doi: 10.1097/MOP.0b013e32833f56d5. Curr Opin Pediatr. 2010. PMID: 20859208 Free PMC article. Review.
PURPOSE OF REVIEW: This review presents recent advances in our understanding and clinical management of holoprosencephaly (HPE). HPE is the most common developmental disorder of the human forebrain and involves incomplete or failed separation of the cerebral hemispheres. . …
PURPOSE OF REVIEW: This review presents recent advances in our understanding and clinical management of holoprosencephaly (HPE). HPE …
61 results