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

Year Number of Results
1982 1
1988 2
1989 2
1990 2
1991 2
1992 3
1993 1
1994 4
1995 1
1996 1
1997 1
1998 3
1999 2
2001 3
2002 6
2003 1
2005 4
2006 3
2007 2
2008 1
2009 5
2010 4
2011 3
2012 3
2013 4
2014 3
2015 1
2016 3
2017 2
2018 1
2019 1
2020 1
2021 3
2022 2
2023 0

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77 results

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Page 1
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.
The most common associated findings with rhombencephalosynapsis include hydrocephalus, mesencephalosynapsis, holoprosencephaly, pontocerebellar hypoplasia, corpus callosum dysgenesis, and absence of septum pellucidum. Patients can be categorized into 4 groups: 1) rh …
The most common associated findings with rhombencephalosynapsis include hydrocephalus, mesencephalosynapsis, holoprosencephaly, ponto …
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 …
Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by fo …
Developmental disorders of the dentition: an update.
Klein OD, Oberoi S, Huysseune A, Hovorakova M, Peterka M, Peterkova R. Klein OD, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):318-32. doi: 10.1002/ajmg.c.31382. Epub 2013 Oct 4. Am J Med Genet C Semin Med Genet. 2013. PMID: 24124058 Free PMC article. Review.
This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome (VWS), ectodermal dysplasias (EDs), oral-facial-digital (OFD) syndrome type I, Rieger syndrome, holoprosencephaly, and tooth anomalies associated with cleft l …
This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome (VWS), ectodermal dysplas …
Monosomy 18p.
Turleau C. Turleau C. Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. Orphanet J Rare Dis. 2008. PMID: 18284672 Free PMC article. Review.
A small subset of patients, about 10-15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders. In two-thirds of the cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo, in one-third the …
A small subset of patients, about 10-15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly …
Four cholesterol-sensing proteins.
Lange Y, Steck TL. Lange Y, et al. Curr Opin Struct Biol. 1998 Aug;8(4):435-9. doi: 10.1016/s0959-440x(98)80119-x. Curr Opin Struct Biol. 1998. PMID: 9729733 Review.
What is the connection among the following three medical conditions: Niemann-Pick type C disease (a cause of mental retardation and early death), systemic lipidosis (in which an obscure side effect of numerous drugs transforms lysosomes into lamellar bodies), and holoprosencep …
What is the connection among the following three medical conditions: Niemann-Pick type C disease (a cause of mental retardation and early de …
The cavum septi pellucidi: why is it important?
Winter TC, Kennedy AM, Byrne J, Woodward PJ. Winter TC, et al. J Ultrasound Med. 2010 Mar;29(3):427-44. doi: 10.7863/jum.2010.29.3.427. J Ultrasound Med. 2010. PMID: 20194938 Review.
OBJECTIVE: The cavum septi pellucidi (CSP) is routinely imaged in the fetal brain during obstetric sonography; in fact, for well over a decade, assessment of the CSP has been considered part of the required elements of a standard examination of fetal morphology in guidelines deve …
OBJECTIVE: The cavum septi pellucidi (CSP) is routinely imaged in the fetal brain during obstetric sonography; in fact, for well over a deca …
Patterning of the antero-ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse.
Barratt KS, Drover KA, Thomas ZM, Arkell RM. Barratt KS, et al. WIREs Mech Dis. 2022 Jul;14(4):e1552. doi: 10.1002/wsbm.1552. Epub 2022 Feb 8. WIREs Mech Dis. 2022. PMID: 35137563 Review.
Comparative biology has extended the holoprosencephaly network via the inclusion of gene mutations from multiple signaling pathways known to be required for anterior midline formation. ...This framework means we are poised to move beyond our current understanding of varian …
Comparative biology has extended the holoprosencephaly network via the inclusion of gene mutations from multiple signaling pathways k …
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.
Petryk A, Graf D, Marcucio R. Petryk A, et al. Wiley Interdiscip Rev Dev Biol. 2015 Jan-Feb;4(1):17-32. doi: 10.1002/wdev.161. Epub 2014 Oct 22. Wiley Interdiscip Rev Dev Biol. 2015. PMID: 25339593 Free PMC article. Review.
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain characterized by inadequate or absent midline division of the forebrain into cerebral hemispheres, with concomitant midline facial defects in the majority of cases. ...
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain characterized by inadequate or absent midline divisi …
Hand in glove: brain and skull in development and dysmorphogenesis.
Richtsmeier JT, Flaherty K. Richtsmeier JT, et al. Acta Neuropathol. 2013 Apr;125(4):469-89. doi: 10.1007/s00401-013-1104-y. Epub 2013 Mar 23. Acta Neuropathol. 2013. PMID: 23525521 Free PMC article. Review.
Evidence for this tight correspondence is also seen in diseases of the craniofacial complex that are often classified as diseases of the skull (e.g., craniosynostosis) or diseases of the brain (e.g., holoprosencephaly) even when both tissues are affected. Our review sugges …
Evidence for this tight correspondence is also seen in diseases of the craniofacial complex that are often classified as diseases of the sku …
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 …
77 results