Amor DJ - Search Results

1

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

2

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.

3

Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.

Amor DJ, Kornberg AJ, Smith LJ. Amor DJ, et al. J Paediatr Child Health. 2000 Dec;36(6):603-5. doi: 10.1046/j.1440-1754.2000.00541.x. J Paediatr Child Health. 2000. PMID: 11115042

4

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.

5

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Amor DJ, Delatycki MB, Gardner RJ, Storey E. Amor DJ, et al. Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11170090 Review.

6

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

Giannakudis J, Röpke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D, Schlicker M, Hansmann I. Giannakudis J, et al. Eur J Hum Genet. 2001 Mar;9(3):209-16. doi: 10.1038/sj.ejhg.5200613. Eur J Hum Genet. 2001. PMID: 11313761

7

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

8

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. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Clin Dysmorphol. 2003. PMID: 12868473

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. 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

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

Coman DJ, White SM, Amor DJ. Coman DJ, et al. Among authors: amor dj. Am J Med Genet A. 2007 Sep 15;143A(18):2085-8. doi: 10.1002/ajmg.a.31894. Am J Med Genet A. 2007. PMID: 17702017

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