Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1988 1
1989 1
1997 2
1998 2
1999 2
2002 2
2006 1
2007 2
2009 1
2010 1
2011 2
2012 1
2014 2
2015 2
2016 1
2019 1
2020 1
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

25 results

Results by year

Filters applied: . Clear all
Page 1
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 …
Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Calloni SF, Caschera L, Triulzi FM. Calloni SF, et al. Neuroimaging Clin N Am. 2019 Aug;29(3):411-421. doi: 10.1016/j.nic.2019.03.003. Epub 2019 Apr 13. Neuroimaging Clin N Am. 2019. PMID: 31256862 Review.
Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity. This article focuses on the imaging fin …
Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon c …
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, …
Evaluation and diagnosis of the dysmorphic infant.
Jones KL, Adam MP. Jones KL, et al. Clin Perinatol. 2015 Jun;42(2):243-61, vii-viii. doi: 10.1016/j.clp.2015.02.002. Clin Perinatol. 2015. PMID: 26042903 Free PMC article. Review.
The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, cong …
The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetr …
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 …
Holoprosencephaly: genetic, neuroradiological, and clinical advances.
Hahn JS, Pinter JD. Hahn JS, et al. Semin Pediatr Neurol. 2002 Dec;9(4):309-19. doi: 10.1053/spen.2002.32507. Semin Pediatr Neurol. 2002. PMID: 12523555 Review.
Recent advances in genetics and neuroimaging have greatly contributed to our understanding of the spectrum of midline brain and craniofacial malformations known as holoprosencephaly. This review summarizes our current understanding of the epidemiology and molecular-genetic …
Recent advances in genetics and neuroimaging have greatly contributed to our understanding of the spectrum of midline brain and craniofacial …
Median cleft of the upper lip: A new classification to guide treatment decisions.
de Boutray M, Beziat JL, Yachouh J, Bigorre M, Gleizal A, Captier G. de Boutray M, et al. J Craniomaxillofac Surg. 2016 Jun;44(6):664-71. doi: 10.1016/j.jcms.2016.02.012. Epub 2016 Mar 2. J Craniomaxillofac Surg. 2016. PMID: 27075944 Review.
They involved complete (42%), incomplete (49%), and minor forms (9%). Epidemiological and clinical data were collected, from which a classification was derived, based on the type of cleft and its belonging to other syndrome(s). ...
They involved complete (42%), incomplete (49%), and minor forms (9%). Epidemiological and clinical data were collected, from which a …
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Cohen MM Jr. Cohen MM Jr. Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73. doi: 10.1002/bdra.20295. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 17001700 Review.
Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tub
Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly;
GLI2 mutations as a cause of hypopituitarism.
Cohen LE. Cohen LE. Pediatr Endocrinol Rev. 2012 Aug;9(4):706-9. Pediatr Endocrinol Rev. 2012. PMID: 23304807 Review.
Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and wit …
Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly ( …
Role of TG-interacting factor (Tgif) in lipid metabolism.
Pramfalk C, Eriksson M, Parini P. Pramfalk C, et al. Biochim Biophys Acta. 2015 Jan;1851(1):9-12. doi: 10.1016/j.bbalip.2014.07.019. Epub 2014 Aug 1. Biochim Biophys Acta. 2015. PMID: 25088698 Review.
These two proteins bind to the same DNA sequence and share a conserved C-terminal repression domain. Mutations in TGIF1 have been linked to holoprosencephaly, which is a human genetic disease that affects craniofacial development. ...
These two proteins bind to the same DNA sequence and share a conserved C-terminal repression domain. Mutations in TGIF1 have been linked to …
25 results