Amor D - Search Results

1

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. White SM, et al. Among authors: amor d. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Clin Dysmorphol. 2003. PMID: 12868473

2

Pseudotrisomy 13 syndrome in siblings.

Amor DJ, Woods CG. Amor DJ, et al. Clin Dysmorphol. 2000 Apr;9(2):115-8. doi: 10.1097/00019605-200009020-00008. Clin Dysmorphol. 2000. PMID: 10826623

3

New case of Cole-Carpenter syndrome.

Amor DJ, Savarirayan R, Schneider AS, Bankier A. Amor DJ, et al. Am J Med Genet. 2000 Jun 5;92(4):273-7. doi: 10.1002/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t. Am J Med Genet. 2000. PMID: 10842295 Review.

4

Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

Amor DJ, Leventer RJ, Hayllar S, Bankier A. Amor DJ, et al. Am J Med Genet. 2000 Aug 14;93(4):328-34. doi: 10.1002/1096-8628(20000814)93:4<328::aid-ajmg13>3.0.co;2-0. Am J Med Genet. 2000. PMID: 10946361

5

Autosomal dominant inheritance of scapuloiliac dysostosis.

Amor DJ, Savarirayan R, Bankier A, Jensen F, Hauser SP. Amor DJ, et al. Am J Med Genet. 2000 Dec 18;95(5):507-9. Am J Med Genet. 2000. PMID: 11146474 No abstract available.

6

Situs inversus totalis and congenital hypoglossia.

Amor DJ, Craig JE. Amor DJ, et al. Clin Dysmorphol. 2001 Jan;10(1):47-50. doi: 10.1097/00019605-200101000-00010. Clin Dysmorphol. 2001. PMID: 11152148 Review.

7

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

Amor DJ, Savarirayan R. Amor DJ, et al. Am J Med Genet. 2001 Oct 15;103(3):252-4. doi: 10.1002/ajmg.1540. Am J Med Genet. 2001. PMID: 11746001 No abstract available.

8

Familial digital arthropathy-brachydactyly.

Amor DJ, Tudball C, Gardner RJ, Lamandé SR, Bateman JF, Savarirayan R. Amor DJ, et al. Am J Med Genet. 2002 Mar 15;108(3):235-40. doi: 10.1002/ajmg.10269. Am J Med Genet. 2002. PMID: 11891693

9

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Among authors: amor d. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

10

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.

Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH. Amor DJ, et al. Am J Med Genet A. 2005 Mar 1;133A(2):151-7. doi: 10.1002/ajmg.a.30527. Am J Med Genet A. 2005. PMID: 15666312

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