Manson DE - Search Results

1

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.

Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM. Dinur Schejter Y, et al. Among authors: manson de. NPJ Genom Med. 2017 Jul 10;2:23. doi: 10.1038/s41525-017-0024-5. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263834 Free PMC article.

2

Clinical utility of high-resolution pulmonary computed tomography in children with antibody deficiency disorders.

Manson D, Reid B, Dalal I, Roifman CM. Manson D, et al. Pediatr Radiol. 1997 Oct;27(10):794-8. doi: 10.1007/s002470050235. Pediatr Radiol. 1997. PMID: 9323243

3

Primary immunodeficiencies: a pictorial immunology primer for radiologists.

Manson DE, Sikka S, Reid B, Roifman C. Manson DE, et al. Pediatr Radiol. 2000 Aug;30(8):501-10. doi: 10.1007/s002470000237. Pediatr Radiol. 2000. PMID: 10993534 Review. No abstract available.

4

Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.

Manson D, Diamond L, Oudjhane K, Hussain FB, Roifman C, Grunebaum E. Manson D, et al. Pediatr Radiol. 2013 Mar;43(5):589-92. doi: 10.1007/s00247-012-2564-2. Epub 2012 Nov 24. Pediatr Radiol. 2013. PMID: 23179487

5

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.

6

Multiple osteochondromas following irradiation-containing conditioning in severe combined immunodeficiency.

Grunebaum E, Daneman A, Murguia-Favela L, Manson D, Kim VH, Roifman CM, Grunebaum M. Grunebaum E, et al. Br J Haematol. 2013 May;161(3):446-8. doi: 10.1111/bjh.12248. Epub 2013 Feb 6. Br J Haematol. 2013. PMID: 23384194 Free article. No abstract available.

7

Bronchial artery aneurysm in hyperimmunoglobulinemia E syndrome.

Connolly B, Manson D, Khattak S, Burrows P. Connolly B, et al. Pediatr Radiol. 1994;24(8):592-3. doi: 10.1007/BF02012742. Pediatr Radiol. 1994. PMID: 7724285

8

Three-dimensional imaging of the pediatric trachea in congenital tracheal stenosis.

Manson D, Babyn P, Filler R, Holowka S. Manson D, et al. Pediatr Radiol. 1994;24(3):175-9. doi: 10.1007/BF02012182. Pediatr Radiol. 1994. PMID: 7936792

9

CT of blunt chest trauma in children.

Manson D, Babyn PS, Palder S, Bergman K. Manson D, et al. Pediatr Radiol. 1993;23(1):1-5. doi: 10.1007/BF02020209. Pediatr Radiol. 1993. PMID: 8469582

10

Reliability of the chest radiograph in the diagnosis of lower respiratory infections in young children.

Davies HD, Wang EE, Manson D, Babyn P, Shuckett B. Davies HD, et al. Pediatr Infect Dis J. 1996 Jul;15(7):600-4. doi: 10.1097/00006454-199607000-00008. Pediatr Infect Dis J. 1996. PMID: 8823854

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