Haworth A - Search Results

1

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A; Deciphering Developmental Disorders Study; Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M. Cordeddu V, et al. Among authors: haworth a. Clin Genet. 2020 Aug;98(2):172-178. doi: 10.1111/cge.13775. Epub 2020 Jun 3. Clin Genet. 2020. PMID: 32415735

2

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Hall CM, Liu B, Haworth A, Reed L, Pryce J, Mansour S. Hall CM, et al. Among authors: haworth a. Eur J Med Genet. 2021 Mar;64(3):104162. doi: 10.1016/j.ejmg.2021.104162. Epub 2021 Feb 7. Eur J Med Genet. 2021. PMID: 33567347

3

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Pemberton L, Barker R, Cockell A, Ramachandran V, Haworth A, Homfray T. Pemberton L, et al. Among authors: haworth a. BMC Med Genet. 2020 Jan 7;21(1):7. doi: 10.1186/s12881-019-0939-z. BMC Med Genet. 2020. PMID: 31910817 Free PMC article.

4

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG. Raja Rayan DL, et al. Among authors: haworth a. Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30. Neurology. 2012. PMID: 22649220 Free PMC article.

5

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review.

Dempsey E, Haworth A, Ive L, Dubis R, Savage H, Serra E, Kenny J, Elmslie F, Greco E, Thilaganathan B, Mansour S, Homfray T, Drury S. Dempsey E, et al. Among authors: haworth a. BJOG. 2021 May;128(6):1012-1019. doi: 10.1111/1471-0528.16546. Epub 2021 Feb 1. BJOG. 2021. PMID: 32981126

6

Active cascade testing for carriers of cystic fibrosis gene.

Super M, Schwarz MJ, Malone G, Roberts T, Haworth A, Dermody G. Super M, et al. Among authors: haworth a. BMJ. 1994 Jun 4;308(6942):1462-7. doi: 10.1136/bmj.308.6942.1462. BMJ. 1994. PMID: 8019278 Free PMC article.

7

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R. Suetterlin K, et al. Among authors: haworth a. Brain. 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. Brain. 2022. PMID: 34529042 Free PMC article.

8

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B. Raheem O, et al. Among authors: haworth a. Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14. Neurology. 2012. PMID: 23152584 Free PMC article. Clinical Trial.

9

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG. Horga A, et al. Among authors: haworth a. Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20. Neurology. 2013. PMID: 23516313 Free PMC article.

10

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG. Fialho D, et al. Among authors: haworth a. Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11. Brain. 2007. PMID: 17932099

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