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2005 245
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2008 303
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2010 284
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7,961 results

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Quoted phrase not found in phrase index: "Abnormality of the peripheral nervous system"
Page 1
Ocular coloboma-a comprehensive review for the clinician.
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Lingam G, et al. Eye (Lond). 2021 Aug;35(8):2086-2109. doi: 10.1038/s41433-021-01501-5. Epub 2021 Mar 21. Eye (Lond). 2021. PMID: 33746210 Free PMC article. Review.
The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. ...
The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. …
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M. Kenny SE, et al. Semin Pediatr Surg. 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. Semin Pediatr Surg. 2010. PMID: 20610192 Free article. Review.
Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. Affected infants usually present in the days after birth with bowel obstruction. ...In the last 2 decades, great advances have been made …
Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gu …
Congenital optic nerve anomalies.
Martín-Begué N, Saint-Gerons M. Martín-Begué N, et al. Arch Soc Esp Oftalmol. 2016 Dec;91(12):577-588. doi: 10.1016/j.oftal.2016.05.010. Epub 2016 Jul 1. Arch Soc Esp Oftalmol. 2016. PMID: 27378455 Review. English, Spanish.
It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. CONCLUSIONS: Congenital optic di …
It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous sy …
Neurocutaneous syndromes in art and antiquities.
Ruggieri M, Gentile AE, Ferrara V, Papi M, Praticò AD, Mudry A, Taruscio D, Micali G, Polizzi A. Ruggieri M, et al. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):224-234. doi: 10.1002/ajmg.c.31917. Epub 2021 May 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34013593 Free PMC article. Review.
Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system, and the eye with congenital abnormalities and/or tumors. ...
Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system …
Genetic mechanisms of peripheral nerve disease.
Stavrou M, Sargiannidou I, Christofi T, Kleopa KA. Stavrou M, et al. Neurosci Lett. 2021 Jan 18;742:135357. doi: 10.1016/j.neulet.2020.135357. Epub 2020 Nov 26. Neurosci Lett. 2021. PMID: 33249104 Review.
Peripheral neuropathies of genetic etiology are a very diverse group of disorders manifesting either as non-syndromic inherited neuropathies without significant manifestations outside the peripheral nervous system, or as part of a systemic or syndromic …
Peripheral neuropathies of genetic etiology are a very diverse group of disorders manifesting either as non-syndromic inherited neuro …
Advances in the understanding of cluster headache.
Leone M, Proietti Cecchini A. Leone M, et al. Expert Rev Neurother. 2017 Feb;17(2):165-172. doi: 10.1080/14737175.2016.1216796. Epub 2016 Aug 8. Expert Rev Neurother. 2017. PMID: 27454989 Review.
The familial occurrence of the disease indicates a genetic component but a gene abnormality is yet to be disclosed. Activation of trigeminal afferents and cranial parasympathetic efferents, the so-called trigemino-parasympathetic reflex, can explain pain and accompanying o …
The familial occurrence of the disease indicates a genetic component but a gene abnormality is yet to be disclosed. Activation of tri …
Superior segmental optic nerve hypoplasia: A review.
Wu JH, Lin CW, Liu CH, Weinreb RN, Welsbie DS. Wu JH, et al. Surv Ophthalmol. 2022 Sep-Oct;67(5):1467-1475. doi: 10.1016/j.survophthal.2022.02.008. Epub 2022 Feb 18. Surv Ophthalmol. 2022. PMID: 35189184 Review.
Superior segmental optic nerve hypoplasia (SSONH) is a congenital condition characterized by developmental abnormalities of the superior optic disc and an underappreciated differential diagnosis for glaucoma. ...
Superior segmental optic nerve hypoplasia (SSONH) is a congenital condition characterized by developmental abnormalities of th …
The Presence and Significance of A-Waves-A Retrospective Review of 679 Patients.
Zhang W, Roberts L. Zhang W, et al. J Clin Neurophysiol. 2022 Mar 1;39(3):222-227. doi: 10.1097/WNP.0000000000000760. J Clin Neurophysiol. 2022. PMID: 32756267
CONCLUSIONS: A-waves are commonly seen in symptomatic individuals with otherwise normal nerve conduction studies and individuals with various neurologic conditions but are more commonly found in nerves with otherwise abnormal electrophysiological testing. A-waves are most …
CONCLUSIONS: A-waves are commonly seen in symptomatic individuals with otherwise normal nerve conduction studies and individuals with variou …
Developmental determinants of the independence and complexity of the enteric nervous system.
Gershon MD. Gershon MD. Trends Neurosci. 2010 Oct;33(10):446-56. doi: 10.1016/j.tins.2010.06.002. Epub 2010 Jul 13. Trends Neurosci. 2010. PMID: 20633936 Review.
Enteric nervous system (ENS) development is relevant to Hirschsprung's disease (HSCR; congenital aganglionosis of the terminal bowel), which is still imperfectly treated. ...
Enteric nervous system (ENS) development is relevant to Hirschsprung's disease (HSCR; congenital aganglionosis of the t …
Hirschsprung's disease and the brain.
Moore SW. Moore SW. Pediatr Surg Int. 2011 Apr;27(4):347-52. doi: 10.1007/s00383-010-2807-y. Epub 2010 Dec 5. Pediatr Surg Int. 2011. PMID: 21132502 Review.
Hirschsprung's disease (HSCR) occurs as an isolated phenotype in 70% of cases but is associated with other congenital abnormalities and syndromic phenotypes in the remainder, with CNS anomalies making up 6.78%. ...
Hirschsprung's disease (HSCR) occurs as an isolated phenotype in 70% of cases but is associated with other congenital abnormalitie …
7,961 results