Search Results - "Burkitt-Wright EM"

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.

Authors: Molina-Ramírez LP Burkitt-Wright EM Saeed H et al.

Source: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery [Clin Otolaryngol] 2021 Nov; Vol. 46 (6), pp. 1257-1262. Date of Electronic Publication: 2021 Jul 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101247023 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-4486 (Electronic) Linking ISSN: 17494478 NLM ISO Abbreviation: Clin Otolaryngol Subsets: MEDLINE

Perceived fatigue in children and young adults with neurofibromatosis type 1.

Authors: Vassallo G Mughal Z Robinson L et al.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2020 Jun; Vol. 56 (6), pp. 878-883. Date of Electronic Publication: 2020 Jan 09.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Authors: Molina-Ramírez LP Kyle C Ellingford JM et al.

Source: Journal of medical genetics [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 393-398. Date of Electronic Publication: 2021 Apr 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Authors: Flex E Jaiswal M Pantaleoni F et al.

Source: Human molecular genetics [Hum Mol Genet] 2014 Aug 15; Vol. 23 (16), pp. 4315-27. Date of Electronic Publication: 2014 Apr 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.

Authors: Giannoulatou E McVean G Taylor IB et al.

Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2013 Dec 10; Vol. 110 (50), pp. 20152-7. Date of Electronic Publication: 2013 Nov 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Authors: Burkitt Wright EM Sach E Sharif S et al.

Source: Journal of medical genetics [J Med Genet] 2013 Sep; Vol. 50 (9), pp. 606-13. Date of Electronic Publication: 2013 Jun 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Authors: Rohrbach M Spencer HL Porter LF et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2013 Jul; Vol. 109 (3), pp. 289-95. Date of Electronic Publication: 2013 Apr 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Authors: Burkitt Wright EM Porter LF Spencer HL et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 May 04; Vol. 8, pp. 68. Date of Electronic Publication: 2013 May 04.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Authors: Burkitt-Wright EM Bradley L Shorto J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 May; Vol. 158A (5), pp. 1102-10. Date of Electronic Publication: 2012 Apr 11.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.

Authors: Burkitt Wright EM Perveen R Bowers N et al.

Source: The British journal of ophthalmology [Br J Ophthalmol] 2010 Mar; Vol. 94 (3), pp. 386-8.

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

Authors: Burkitt Wright EM Perveen R Clayton PE et al.

Source: Clinical dysmorphology [Clin Dysmorphol] 2009 Oct; Vol. 18 (4), pp. 218-21.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE