Shannon P - Search Results

1

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM; CAUSES Study; Phillips RS, Chapman G, Dunwoodie SL. Szot JO, et al. Among authors: shannon p. Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33942433 Free PMC article.

2

Inner ear dysplasia is common in children with Down syndrome (trisomy 21).

Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Blaser S, et al. Among authors: shannon p. Laryngoscope. 2006 Dec;116(12):2113-9. doi: 10.1097/01.mlg.0000245034.77640.4f. Laryngoscope. 2006. PMID: 17146381

3

Evaluation of subcortical white matter and deep white matter tracts in malformations of cortical development.

Widjaja E, Blaser S, Miller E, Kassner A, Shannon P, Chuang SH, Snead OC 3rd, Raybaud CR. Widjaja E, et al. Among authors: shannon p. Epilepsia. 2007 Aug;48(8):1460-9. doi: 10.1111/j.1528-1167.2007.01105.x. Epub 2007 Apr 18. Epilepsia. 2007. PMID: 17441991 Free article.

4

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. Chitayat D, et al. Among authors: shannon p. Am J Med Genet A. 2007 Dec 15;143A(24):3280-5. doi: 10.1002/ajmg.a.32022. Am J Med Genet A. 2007. PMID: 18000911

5

Brain and bone abnormalities of thanatophoric dwarfism.

Miller E, Blaser S, Shannon P, Widjaja E. Miller E, et al. Among authors: shannon p. AJR Am J Roentgenol. 2009 Jan;192(1):48-51. doi: 10.2214/AJR.08.1524. AJR Am J Roentgenol. 2009. PMID: 19098178 Review.

6

Malformations of the fetal dural sinuses.

McInnes M, Fong K, Grin A, ter Brugge K, Blaser S, Halliday W, Shannon P. McInnes M, et al. Among authors: shannon p. Can J Neurol Sci. 2009 Jan;36(1):72-7. doi: 10.1017/s031716710000634x. Can J Neurol Sci. 2009. PMID: 19294892

7

Abnormal fetal cerebral laminar organization in cobblestone complex as seen on post-mortem MRI and DTI.

Widjaja E, Geibprasert S, Blaser S, Rayner T, Shannon P. Widjaja E, et al. Among authors: shannon p. Pediatr Radiol. 2009 Aug;39(8):860-4. doi: 10.1007/s00247-009-1255-0. Epub 2009 May 5. Pediatr Radiol. 2009. PMID: 19415260

8

Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms.

Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P. Fitzgerald B, et al. Among authors: shannon p. Brain Dev. 2012 Mar;34(3):238-43. doi: 10.1016/j.braindev.2011.05.007. Epub 2011 Jun 12. Brain Dev. 2012. PMID: 21669506

9

The pathology of incipient polymicrogyria.

Diamandis P, Chitayat D, Toi A, Blaser S, Shannon P. Diamandis P, et al. Among authors: shannon p. Brain Dev. 2017 Jan;39(1):23-39. doi: 10.1016/j.braindev.2016.06.005. Epub 2016 Jul 9. Brain Dev. 2017. PMID: 27406708

10

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O. Feingold-Zadok M, et al. Among authors: shannon p. Prenat Diagn. 2017 Feb;37(2):144-150. doi: 10.1002/pd.4977. Epub 2017 Jan 25. Prenat Diagn. 2017. PMID: 27933661

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

280 results

Search Page

Filters