Sillence DO - Search Results

1

Agnathia-holoprosencephaly with tetramelia.

Ades LC, Sillence DO. Ades LC, et al. Among authors: sillence do. Clin Dysmorphol. 1992 Jul;1(3):182-4. Clin Dysmorphol. 1992. PMID: 1342869

2

Cardiofaciocutaneous syndrome.

Ades LC, Sillence DO, Rogers M. Ades LC, et al. Among authors: sillence do. Clin Dysmorphol. 1992 Jul;1(3):145-50. Clin Dysmorphol. 1992. PMID: 1342862

3

Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.

Adès LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. Adès LC, et al. Among authors: sillence do. Am J Med Genet. 1995 Jul 17;57(4):565-72. doi: 10.1002/ajmg.1320570410. Am J Med Genet. 1995. PMID: 7573130 Review.

4

An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family.

Adès LC, Rogers M, Sillence DO. Adès LC, et al. Among authors: sillence do. Pediatr Dermatol. 1993 Dec;10(4):344-51. doi: 10.1111/j.1525-1470.1993.tb00396.x. Pediatr Dermatol. 1993. PMID: 8302737

5

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. Adès LC, et al. Among authors: sillence do. Am J Med Genet. 1993 Feb 1;45(3):327-34. doi: 10.1002/ajmg.1320450309. Am J Med Genet. 1993. PMID: 8434619

6

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Wade EM, et al. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498505

7

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM. Reardon W, et al. J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26. J Med Genet. 2000. PMID: 10633130 Free PMC article.

8

Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings.

Kerr B, Smith V, Patel R, Ladusans E, Sillence DO. Kerr B, et al. Among authors: sillence do. Clin Dysmorphol. 2000 Jul;9(3):167-72. doi: 10.1097/00019605-200009030-00003. Clin Dysmorphol. 2000. PMID: 10955475

9

Congenital synspondylism.

Wiles CR, Taylor TF, Sillence DO. Wiles CR, et al. Among authors: sillence do. Am J Med Genet. 1992 Feb 1;42(3):288-95. doi: 10.1002/ajmg.1320420305. Am J Med Genet. 1992. PMID: 1536163

10

A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.

Kozlowski K, Brown J, Hardwick R, Sillence D. Kozlowski K, et al. Pediatr Radiol. 1992;22(5):328-30. doi: 10.1007/BF02016246. Pediatr Radiol. 1992. PMID: 1408436

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