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

Year Number of Results
1975 1
1976 2
1979 1
1982 2
1984 1
1985 1
1986 3
1988 5
1989 8
1990 7
1991 9
1992 6
1993 10
1994 6
1995 5
1996 3
1997 6
1998 15
1999 10
2000 18
2001 20
2002 12
2003 13
2004 4
2005 11
2006 9
2007 12
2008 7
2009 14
2010 30
2011 16
2012 12
2013 7
2014 12
2015 11
2016 16
2017 7
2018 15
2019 10
2020 12
2021 9
2022 10
2023 2

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368 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 …
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.
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 …
First and second trimester screening for fetal structural anomalies.
Edwards L, Hui L. Edwards L, et al. Semin Fetal Neonatal Med. 2018 Apr;23(2):102-111. doi: 10.1016/j.siny.2017.11.005. Epub 2017 Dec 9. Semin Fetal Neonatal Med. 2018. PMID: 29233624 Review.
Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies …
Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdomina …
Pituitary stalk interruption syndrome.
Voutetakis A. Voutetakis A. Handb Clin Neurol. 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. Handb Clin Neurol. 2021. PMID: 34238482 Review.
Nevertheless, recent findings have uncovered a wide variety of PSIS-associated molecular defects in genes involved in pituitary development, holoprosencephaly (HPE), neural development, and other important cellular processes such as cilia function. ...
Nevertheless, recent findings have uncovered a wide variety of PSIS-associated molecular defects in genes involved in pituitary development, …
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S. Andreu-Cervera A, et al. Neurobiol Dis. 2021 Mar;150:105236. doi: 10.1016/j.nbd.2020.105236. Epub 2020 Dec 28. Neurobiol Dis. 2021. PMID: 33383187 Free article. Review.
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline structures of the forebrai …
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent pert …
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 …
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 …
ZIC2 in Holoprosencephaly.
Barratt KS, Arkell RM. Barratt KS, et al. Adv Exp Med Biol. 2018;1046:269-299. doi: 10.1007/978-981-10-7311-3_14. Adv Exp Med Biol. 2018. PMID: 29442327 Review.
The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and …
The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenit …
368 results