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34 results

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Page 1
Unusual EEG patterns.
Westmoreland BF, Klass DW. Westmoreland BF, et al. J Clin Neurophysiol. 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. J Clin Neurophysiol. 1990. PMID: 2187021 Review.
Patterns with a distinct morphology or distribution include the breach rhythm, wicket spikes, zeta waves, periodic frontal sharp complexes, subclinical rhythmic electrographic discharge of adults, and the EEG pattern of holoprosencephaly....
Patterns with a distinct morphology or distribution include the breach rhythm, wicket spikes, zeta waves, periodic frontal sharp complexes, …
Evolution in the clinic: Maladaptive units and "minor anomalies".
Carey JC, Opitz JM. Carey JC, et al. Am J Med Genet A. 2023 Feb;191(2):640-646. doi: 10.1002/ajmg.a.63028. Epub 2022 Nov 4. Am J Med Genet A. 2023. PMID: 36331276 Review.
Morphological and morphogenetic analyses have shown that the human face with its skin, muscles, nerves, arteries, veins, glands, and lymphatics is a complex structure made up of progeny of ectoderm and mesoderm. Holoprosencephaly demonstrates graphically how these embryoni …
Morphological and morphogenetic analyses have shown that the human face with its skin, muscles, nerves, arteries, veins, glands, and lymphat …
Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature.
Zhao X, Sun W, Jia JA, Wei Z, Li X, Liao W, Wu J, Wang Y, Tian R. Zhao X, et al. J Matern Fetal Neonatal Med. 2022 Nov;35(22):4268-4272. doi: 10.1080/14767058.2020.1849104. Epub 2020 Nov 19. J Matern Fetal Neonatal Med. 2022. PMID: 33213225 Review.
Clinical cases of chromosome 7 long-arm end deletion are rare. Generally, 7q terminal deletion syndrome results in complex clinical phenotypes, such as microcephaly, growth and development retardation, holoprosencephaly, and sacral hypoplasia. ...The results showed …
Clinical cases of chromosome 7 long-arm end deletion are rare. Generally, 7q terminal deletion syndrome results in complex clinical p …
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;
Holoprosencephaly: an antenatally-diagnosed case series and subject review.
Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, Lim JY, Tien SL. Lim AS, et al. Ann Acad Med Singap. 2008 Jul;37(7):594-7. Ann Acad Med Singap. 2008. PMID: 18695774 Free article. Review.
INTRODUCTION: Holoprosencephaly (HPE) is an uncommon congenital failure of forebrain development. ...OUTCOME: The total chromosome abnormality rate was 92.3%, comprising predominantly trisomy 13 (66.7%). There was 1 case of trisomy 18, and 3 cases of structural abno …
INTRODUCTION: Holoprosencephaly (HPE) is an uncommon congenital failure of forebrain development. ...OUTCOME: The total chromosome ab …
Neuropathology of the limbic system.
Shaw CM, Alvord EC Jr. Shaw CM, et al. Neuroimaging Clin N Am. 1997 Feb;7(1):101-42. Neuroimaging Clin N Am. 1997. PMID: 9100234 Review.
The diseases involving the limbic system are divided into three groups; (1) diseases in which the limbic system is more or less selectively involved, such as limbic encephalitis, herpes simplex encephalitis, cerebral confusions by the falx and tentorium, and internal herniations …
The diseases involving the limbic system are divided into three groups; (1) diseases in which the limbic system is more or less selectively …
Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.
Ayub S, Gadji M, Krabchi K, Côté S, Gekas J, Maranda B, Drouin R. Ayub S, et al. Am J Med Genet A. 2016 Apr;170A(4):896-907. doi: 10.1002/ajmg.a.37428. Epub 2016 Jan 29. Am J Med Genet A. 2016. PMID: 26822682 Review.
Partial monosomy of the long arm of chromosome 7 has been characterized by wide phenotypic manifestations, but holoprosencephaly (HPE) and sacral agenesis have frequently been associated with this chromosomal deletion. ...
Partial monosomy of the long arm of chromosome 7 has been characterized by wide phenotypic manifestations, but holoprosencephaly
The spectrum of orofacial clefting.
Eppley BL, van Aalst JA, Robey A, Havlik RJ, Sadove AM. Eppley BL, et al. Plast Reconstr Surg. 2005 Jun;115(7):101e-114e. doi: 10.1097/01.prs.0000164494.45986.91. Plast Reconstr Surg. 2005. PMID: 15923821 Review.
Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.
Chen CP, Huang MC, Chern SR, Kuo YL, Chen YN, Wu PS, Chen LF, Pan CW, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2015 Jun;54(3):297-302. doi: 10.1016/j.tjog.2015.04.001. Taiwan J Obstet Gynecol. 2015. PMID: 26166345 Free article. Review.
MATERIALS AND METHODS: A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. ...Molecular and conventional cytogenetic analyse …
MATERIALS AND METHODS: A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alob …
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
Porter FD. Porter FD. Mol Genet Metab. 2000 Sep-Oct;71(1-2):163-74. doi: 10.1006/mgme.2000.3069. Mol Genet Metab. 2000. PMID: 11001807 Review.
RSH/SLOS is due to a deficiency of the 3beta-hydroxysterol Delta(7)-reductase, which catalyzes the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. This inborn error of cholesterol biosynthesis results in elevated serum and tissue 7-DHC levels …
RSH/SLOS is due to a deficiency of the 3beta-hydroxysterol Delta(7)-reductase, which catalyzes the reduction of 7-dehydrochole …
34 results