Amor DJ - Search Results

1

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Smith KR, Leventer RJ, Mackay MT, Pope K, Gillies G, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ. Smith KR, et al. Among authors: amor dj. Int J Stroke. 2014 Aug;9(6):E26-7. doi: 10.1111/ijs.12306. Int J Stroke. 2014. PMID: 25043520 No abstract available.

2

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

3

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.

4

Genetic factors in athetoid cerebral palsy.

Amor DJ, Craig JE, Delatycki MB, Reddihough D. Amor DJ, et al. J Child Neurol. 2001 Nov;16(11):793-7. doi: 10.1177/08830738010160110301. J Child Neurol. 2001. PMID: 11732763

5

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.

Amor DJ, Dahl HH, Bahlo M, Bankier A. Amor DJ, et al. Am J Med Genet A. 2007 Oct 1;143A(19):2236-41. doi: 10.1002/ajmg.a.31917. Am J Med Genet A. 2007. PMID: 17726694

6

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.

Stark Z, Bruno DL, Mountford H, Lockhart PJ, Amor DJ. Stark Z, et al. Among authors: amor dj. Eur J Med Genet. 2010 Sep-Oct;53(5):337-9. doi: 10.1016/j.ejmg.2010.07.009. Epub 2010 Jul 27. Eur J Med Genet. 2010. PMID: 20670697

7

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ. Mill P, et al. Among authors: amor dj. Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015. Am J Hum Genet. 2011. PMID: 21473986 Free PMC article.

8

Phenotypic variability of distal 22q11.2 copy number abnormalities.

Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ. Tan TY, et al. Among authors: amor dj. Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671380

9

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Smith KR, et al. Among authors: amor dj. Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85. Genome Biol. 2011. PMID: 21917141 Free PMC article.

10

Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Inaba Y, et al. Among authors: amor dj. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060046 Free article.

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