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
1987 1
1992 1
1994 1
1995 1
1996 1
2000 1
2001 3
2005 1
2006 3
2007 2
2008 1
2010 2
2014 1
2015 2
2016 1
2018 1
2019 4
2020 6
2021 4
2022 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

36 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Holoprosencephaly 9"
Page 1
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. ...The wide and complex …
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 …
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.
Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. ...The incidence of oligogenic combinations was significantly higher in holoprosencephaly patients compared to two control populations (P < 10-9). ...
Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. ...The incidence of oligoge …
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.
Addissie YA, Kruszka P, Troia A, Wong ZC, Everson JL, Kozel BA, Lipinski RJ, Malecki KMC, Muenke M. Addissie YA, et al. Environ Health. 2020 Jun 8;19(1):65. doi: 10.1186/s12940-020-00611-z. Environ Health. 2020. PMID: 32513280 Free PMC article.
Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the most common malformation of the forebrain in humans (1 in 250 embryos). ...CONCLUSIONS: Observational findings are consistent with experimen …
Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the most co …
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies. We fo …
To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients w …
Diagnosis of fetal defects in twin pregnancies at routine 11-13-week ultrasound examination.
Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH. Syngelaki A, et al. Ultrasound Obstet Gynecol. 2020 Apr;55(4):474-481. doi: 10.1002/uog.21938. Epub 2020 Mar 6. Ultrasound Obstet Gynecol. 2020. PMID: 31788879 Free article.
The main findings were: first, the overall incidence of fetal defects was higher in MC than in DC twins (2.8% vs 1.3%); second, the proportion of defects diagnosed in the first trimester was higher in MC than in DC twins (52.6% vs 27.1%); third, the pattern of defects in relation …
The main findings were: first, the overall incidence of fetal defects was higher in MC than in DC twins (2.8% vs 1.3%); second, the proporti …
Holoprosencephaly: epidemiologic and clinical characteristics of a California population.
Croen LA, Shaw GM, Lammer EJ. Croen LA, et al. Am J Med Genet. 1996 Aug 23;64(3):465-72. doi: 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8862623
Holoprosencephaly is a brain defect resulting from incomplete cleavage of the embryonic forebrain. ...Among the cytogenetically normal cases, increased risks were observed among Hispanic whites (OR = 1.8 [0.9, 3.6]) and cases whose mother was born in Mexico ( …
Holoprosencephaly is a brain defect resulting from incomplete cleavage of the embryonic forebrain. ...Among the cytogenetically norma …
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. Hamdi-Rozé H, et al. J Clin Endocrinol Metab. 2020 Sep 1;105(9):dgaa249. doi: 10.1210/clinem/dgaa249. J Clin Endocrinol Metab. 2020. PMID: 32403133 Free article.
The NOTCH signaling pathway has recently been associated with holoprosencephaly in humans, but the precise mechanism involving NOTCH signaling during early brain development remains unknown. ...CONCLUSIONS: These results provided new insights into molecular mechanisms unde …
The NOTCH signaling pathway has recently been associated with holoprosencephaly in humans, but the precise mechanism involving NOTCH …
Routine first-trimester ultrasound screening using a standardized anatomical protocol.
Liao Y, Wen H, Ouyang S, Yuan Y, Bi J, Guan Y, Fu Q, Yang X, Guo W, Huang Y, Zeng Q, Qin Y, Xiang H, Li S. Liao Y, et al. Am J Obstet Gynecol. 2021 Apr;224(4):396.e1-396.e15. doi: 10.1016/j.ajog.2020.10.037. Epub 2020 Oct 27. Am J Obstet Gynecol. 2021. PMID: 33127430
However, during the first trimester, most of the previous studies have described the observation of anatomic structures but have not specified clearly the standard sectional views. ...During the first trimester, 37.7% of cardiac defects were identified and included 57.9 …
However, during the first trimester, most of the previous studies have described the observation of anatomic structures but have not …
Survival of children with rare structural congenital anomalies: a multi-registry cohort study.
Coi A, Santoro M, Pierini A, Rankin J, Glinianaia SV, Tan J, Reid AK, Garne E, Loane M, Given J, Ballardini E, Cavero-Carbonell C, de Walle HEK, Gatt M, García-Villodre L, Gissler M, Jordan S, Kiuru-Kuhlefelt S, Kjaer Urhoj S, Klungsøyr K, Lelong N, Lutke LR, Neville AJ, Rahshenas M, Scanlon I, Wellesley D, Morris JK. Coi A, et al. Orphanet J Rare Dis. 2022 Mar 29;17(1):142. doi: 10.1186/s13023-022-02292-y. Orphanet J Rare Dis. 2022. PMID: 35351164 Free PMC article.
Differences between registries were evaluated for the eight rare CAs with at least 500 live births. RESULTS: Amongst the investigated CAs, arhinencephaly/holoprosencephaly had the lowest survival at all ages (58.1%, 95% Confidence Interval (CI): 44.3-76.2% at 1 week; 47.4% …
Differences between registries were evaluated for the eight rare CAs with at least 500 live births. RESULTS: Amongst the investigated CAs, a …
36 results