Stewart H - Search Results

1

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA. Stewart H, et al. Ophthalmology. 1999 May;106(5):964-70. doi: 10.1016/S0161-6420(99)00539-4. Ophthalmology. 1999. PMID: 10328397

2

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.

Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, Harris A, Donnai D, Read A, Kenwrick S. Woffendin H, et al. Among authors: stewart h. Clin Genet. 1999 Jan;55(1):55-60. doi: 10.1034/j.1399-0004.1999.550110.x. Clin Genet. 1999. PMID: 10066033

3

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.

Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G. Stewart HS, et al. Hum Mutat. 1999;14(2):126-32. doi: 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. Hum Mutat. 1999. PMID: 10425035

4

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC. Stewart HS, et al. Br J Ophthalmol. 2000 Apr;84(4):390-4. doi: 10.1136/bjo.84.4.390. Br J Ophthalmol. 2000. PMID: 10729296 Free PMC article.

5

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Smahi A, et al. Among authors: stewart h. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543

6

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

Ridgway AE, Akhtar S, Munier FL, Schorderet DF, Stewart H, Perveen R, Bonshek RE, Odenthal MT, Dixon M, Barraquer R, Escoto R, Black GC. Ridgway AE, et al. Among authors: stewart h. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3286-92. Invest Ophthalmol Vis Sci. 2000. PMID: 11006215

7

Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.

Cox H, Stewart H, Hall L, Donnai D. Cox H, et al. Among authors: stewart h. Am J Med Genet. 2002 May 15;109(4):306-10. doi: 10.1002/ajmg.10368. Am J Med Genet. 2002. PMID: 11992485

8

GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. Tassabehji M, et al. Among authors: stewart h. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Science. 2005. PMID: 16293761

9

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Among authors: stewart h. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.

10

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D. Banka S, et al. Among authors: stewart h. Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27. Clin Genet. 2015. PMID: 24527667

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