Blaser S - Search Results

1

Late-onset cobalamin-C disorder: a challenging diagnosis.

Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. Ben-Omran TI, et al. Among authors: blaser s. Am J Med Genet A. 2007 May 1;143A(9):979-84. doi: 10.1002/ajmg.a.31671. Am J Med Genet A. 2007. PMID: 17431913

2

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. van der Knaap MS, et al. Among authors: blaser s. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

3

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS. Lo B, et al. Among authors: blaser s. Clin Genet. 2004 Feb;65(2):137-42. doi: 10.1111/j.0009-9163.2004.00201.x. Clin Genet. 2004. PMID: 14984473

4

A neuroimaging approach to inborn errors of metabolism.

Blaser S, Feigenbaum A. Blaser S, et al. Neuroimaging Clin N Am. 2004 May;14(2):307-29, ix. doi: 10.1016/j.nic.2004.03.013. Neuroimaging Clin N Am. 2004. PMID: 15182821 Review.

5

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. Laryngoscope. 2006 Dec;116(12):2113-9. doi: 10.1097/01.mlg.0000245034.77640.4f. Laryngoscope. 2006. PMID: 17146381

6

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH. Castagna AE, et al. Among authors: blaser s. Am J Med Genet A. 2007 Apr 15;143A(8):808-16. doi: 10.1002/ajmg.a.31637. Am J Med Genet A. 2007. PMID: 17352390

7

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. Chitayat D, et al. Among authors: blaser s. Am J Med Genet A. 2007 Jun 15;143A(12):1268-81. doi: 10.1002/ajmg.a.31788. Am J Med Genet A. 2007. PMID: 17506106

8

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: blaser s. 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

9

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. Koifman A, et al. Among authors: blaser s. Am J Med Genet A. 2010 May;152A(5):1268-72. doi: 10.1002/ajmg.a.33319. Am J Med Genet A. 2010. PMID: 20425834

10

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Jain-Ghai S, et al. Among authors: blaser s. Mol Genet Metab. 2011 Sep-Oct;104(1-2):107-11. doi: 10.1016/j.ymgme.2011.06.025. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21802329 Free PMC article.

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