Nicholl J - Search Results

1

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S. Mordaunt DA, et al. Among authors: nicholl j. Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899669 Review.

2

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.

Talseth-Palmer BA, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K, Liebelt J, Bratkovic D, Haan E, Yu S, Scott RJ. Talseth-Palmer BA, et al. Among authors: nicholl j. Cytogenet Genome Res. 2009;124(1):94-101. doi: 10.1159/000200093. Epub 2009 Apr 15. Cytogenet Genome Res. 2009. PMID: 19372674

3

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

McMahon JM, Scheffer IE, Nicholl JK, Waters W, Eyre H, Hinton L, Nelson P, Yu S, Dibbens LM, Berkovic SF, Mulley JC. McMahon JM, et al. Epileptic Disord. 2010 Sep;12(3):192-8. doi: 10.1684/epd.2010.0326. Epub 2010 Jul 19. Epileptic Disord. 2010. PMID: 20643615 Free article.

4

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

Rudaks LI, Nicholl JK, Bratkovic D, Barnett CP. Rudaks LI, et al. Am J Med Genet A. 2011 Dec;155A(12):3139-43. doi: 10.1002/ajmg.a.34310. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065603 Review. No abstract available.

5

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.

Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin SM, Vinette KM, Uppill M, Nicholl J. Barnett CP, et al. Among authors: nicholl j. Am J Med Genet A. 2012 Dec;158A(12):3168-73. doi: 10.1002/ajmg.a.35456. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169673

6

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. Nicholl J, et al. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184456

7

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.

Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S. Jolley A, et al. Among authors: nicholl j. Am J Med Genet A. 2013 Jun;161A(6):1508-12. doi: 10.1002/ajmg.a.35922. Epub 2013 May 6. Am J Med Genet A. 2013. PMID: 23650183 Review. No abstract available.

8

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium; Friend K, Bain SM, Yu S. Nicholl J, et al. Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043. Pathology. 2014. PMID: 24300712

9

Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.

Gai D, Nicholl J, Waters W, Barnett CP, Yu S. Gai D, et al. Among authors: nicholl j. Am J Med Genet A. 2014 Mar;164A(3):834-6. doi: 10.1002/ajmg.a.36336. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357539 No abstract available.

10

Phenotypes of AKT3 deletion: a case report and literature review.

Gai D, Haan E, Scholar M, Nicholl J, Yu S. Gai D, et al. Among authors: nicholl j. Am J Med Genet A. 2015 Jan;167A(1):174-9. doi: 10.1002/ajmg.a.36710. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25424989 Review.

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