Blaser S - Search Results

1

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: blaser s. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332

2

Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report.

Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. Macfarlane R, et al. Among authors: blaser s. Neurosurgery. 1995 Jul;37(1):129-33. doi: 10.1227/00006123-199507000-00020. Neurosurgery. 1995. PMID: 8587673

3

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.

Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J. Carcao M, et al. Among authors: blaser si. Am J Med Genet. 1998 Mar 5;76(2):165-7. Am J Med Genet. 1998. PMID: 9511980

4

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.

Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. Boerkoel CF, et al. Among authors: blaser si. Am J Med Genet. 1998 Jun 30;78(2):118-22. doi: 10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9674900

5

Familial growth hormone deficiency associated with MRI abnormalities.

Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA 3rd, Daneman D. Hamilton J, et al. Among authors: blaser s. Am J Med Genet. 1998 Nov 2;80(2):128-32. Am J Med Genet. 1998. PMID: 9805128

6

Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome.

Friedman S, Ford-Jones LE, Toi A, Ryan G, Blaser S, Chitayat D. Friedman S, et al. Among authors: blaser s. Prenat Diagn. 1999 Apr;19(4):330-3. doi: 10.1002/(sici)1097-0223(199904)19:4<330::aid-pd549>3.0.co;2-v. Prenat Diagn. 1999. PMID: 10327137

7

Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging.

Rohrbach M, Chitayat D, Drake J, Velsher L, Sirkin WL, Blaser S. Rohrbach M, et al. Among authors: blaser s. Fetal Diagn Ther. 2007;22(2):112-5. doi: 10.1159/000097107. Epub 2006 Nov 27. Fetal Diagn Ther. 2007. PMID: 17135755

8

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, Clarke JT, Toi A, Tarnopolsky M, Robinson B, Blaser S. Rohrbach M, et al. Among authors: blaser s. Fetal Diagn Ther. 2009;25(2):177-82. doi: 10.1159/000209385. Epub 2009 Mar 25. Fetal Diagn Ther. 2009. PMID: 19321960 Free article.

9

Skull base development and craniosynostosis.

Blaser SI, Padfield N, Chitayat D, Forrest CR. Blaser SI, et al. Pediatr Radiol. 2015 Sep;45 Suppl 3:S485-96. doi: 10.1007/s00247-015-3320-1. Epub 2015 Sep 7. Pediatr Radiol. 2015. PMID: 26346154 Review.

10

The pathology of incipient polymicrogyria.

Diamandis P, Chitayat D, Toi A, Blaser S, Shannon P. Diamandis P, et al. Among authors: blaser s. 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

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