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

Year Number of Results
1975 1
1986 1
1988 3
1989 4
1990 4
1991 4
1992 1
1993 5
1994 1
1995 1
1997 2
1998 4
1999 3
2000 3
2001 3
2002 5
2003 4
2004 3
2005 3
2006 2
2007 4
2008 2
2009 2
2010 3
2011 3
2013 3
2014 2
2015 2
2016 6
2017 2
2018 13
2019 3
2020 2
2021 4
2022 3
2023 1
2024 0

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104 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.
Using this basic approach, almost all cases of acrania, alobar holoprosencephaly and cephalocele are detected. However, the majority of other fetal brain abnormalities remain undiagnosed until the midtrimester. ...
Using this basic approach, almost all cases of acrania, alobar holoprosencephaly and cephalocele are detected. However, the majority …
Neuro-osteology.
Kjaer I. Kjaer I. Crit Rev Oral Biol Med. 1998;9(2):224-44. doi: 10.1177/10454411980090020501. Crit Rev Oral Biol Med. 1998. PMID: 9603237 Review.
Results from pre-natal investigations provide information on the post-natal diagnosis of children with congenital developmental disorders in the central nervous system. Examples of these are myelomeningocele and holoprosencephaly. Three steps are important in clinical neur …
Results from pre-natal investigations provide information on the post-natal diagnosis of children with congenital developmental disorders in …
Neuropathology of holoprosencephaly.
Fallet-Bianco C. Fallet-Bianco C. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):214-228. doi: 10.1002/ajmg.c.31623. Am J Med Genet C Semin Med Genet. 2018. PMID: 30182440 Review.
Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. ...
Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage …
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. ...Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnos …
Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral …
Holoprosencephaly in the genomics era.
Roessler E, Hu P, Muenke M. Roessler E, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):165-174. doi: 10.1002/ajmg.c.31615. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770992 Review.
Holoprosencephaly (HPE) is the direct consequence of specific genetic and/or environmental insults interrupting the midline specification of the nascent forebrain. ...
Holoprosencephaly (HPE) is the direct consequence of specific genetic and/or environmental insults interrupting the midline specifica …
Hedgehog signaling update.
Cohen MM Jr. Cohen MM Jr. Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909. Am J Med Genet A. 2010. PMID: 20635334 Review.
Patched 1 regulates the activity of Smoothened (1) via Vitamin D3, which inhibits Smoothened in the absence of hedgehog ligand or (2) via oxysterols, which activate Smoothened in the presence of hedgehog ligand. Hedgehog ligands also interact with Hip1, Patched 2, a …
Patched 1 regulates the activity of Smoothened (1) via Vitamin D3, which inhibits Smoothened in the absence of hedgehog ligand or (2) …
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.
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. ...
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between t …
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 …
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) rhombence …
The most common associated findings with rhombencephalosynapsis include hydrocephalus, mesencephalosynapsis, holoprosencephaly, ponto …
Congenital eye anomalies: More mosaic than thought?
Ohuchi H, Sato K, Habuta M, Fujita H, Bando T. Ohuchi H, et al. Congenit Anom (Kyoto). 2019 May;59(3):56-73. doi: 10.1111/cga.12304. Epub 2018 Aug 21. Congenit Anom (Kyoto). 2019. PMID: 30039880 Review.
In this review, we first look at the development of the eye, and we highlight seminal reports regarding archetypal gene defects underlying three developmental ocular disorders in humans: (1) holoprosencephaly (HPE), with cyclopia being exhibited in the most severe cases; ( …
In this review, we first look at the development of the eye, and we highlight seminal reports regarding archetypal gene defects underlying t …
104 results