Ho G - Search Results

1

The role of exome sequencing in childhood interstitial or diffuse lung disease.

Temple SEL, Ho G, Bennetts B, Boggs K, Vidic N, Mowat D, Christodoulou J, Schultz A, Gayagay T, Roscioli T, Zhu Y, Lunke S, Armstrong D, Harrison J, Kapur N, McDonald T, Selvadurai H, Tai A, Stark Z, Jaffe A. Temple SEL, et al. Among authors: ho g. Orphanet J Rare Dis. 2022 Sep 9;17(1):350. doi: 10.1186/s13023-022-02508-1. Orphanet J Rare Dis. 2022. PMID: 36085161 Free PMC article.

2

Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.

Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J. Chiong MA, et al. Among authors: ho g. Mol Genet Metab. 2007 Sep-Oct;92(1-2):109-14. doi: 10.1016/j.ymgme.2007.06.017. Epub 2007 Aug 8. Mol Genet Metab. 2007. PMID: 17689999

3

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Ho G, Walter JH, Christodoulou J. Ho G, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S419-23. doi: 10.1007/s10545-008-0981-z. Epub 2008 Nov 7. J Inherit Metab Dis. 2008. PMID: 18985435 Review.

4

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H. Bebbington A, et al. Among authors: ho g. J Med Genet. 2010 Apr;47(4):242-8. doi: 10.1136/jmg.2009.072553. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914908 Free PMC article.

5

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Among authors: ho g. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747

6

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

Ho G, Yonezawa A, Masuda S, Inui K, Sim KG, Carpenter K, Olsen RK, Mitchell JJ, Rhead WJ, Peters G, Christodoulou J. Ho G, et al. Hum Mutat. 2011 Jan;32(1):E1976-84. doi: 10.1002/humu.21399. Hum Mutat. 2011. PMID: 21089064

7

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.

Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, Williamson S, Cloosterman D, Yang N, Christodoulou J. Armani R, et al. Among authors: ho g. Am J Med Genet A. 2012 Apr;158A(4):713-9. doi: 10.1002/ajmg.a.34206. Epub 2012 Mar 1. Am J Med Genet A. 2012. PMID: 22383159

8

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. Fehr S, et al. Among authors: ho g. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8. Eur J Hum Genet. 2013. PMID: 22872100 Free PMC article.

9

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J. Ellaway CJ, et al. Among authors: ho g. Eur J Hum Genet. 2013 May;21(5):522-7. doi: 10.1038/ejhg.2012.208. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968132 Free PMC article.

10

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.

Ho G, Reichardt J, Christodoulou J. Ho G, et al. J Inherit Metab Dis. 2013 Nov;36(6):955-9. doi: 10.1007/s10545-013-9602-6. Epub 2013 Mar 27. J Inherit Metab Dis. 2013. PMID: 23532445

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