Howarth RJ - Search Results

1

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D. Ticho BH, et al. Among authors: howarth rj. Ophthalmic Genet. 2006 Dec;27(4):145-9. doi: 10.1080/13816810600976897. Ophthalmic Genet. 2006. PMID: 17148041

2

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA. Robinson DO, et al. Among authors: howarth rj. Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209. Am J Med Genet A. 2008. PMID: 18241071

3

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.

Cross E, Duncan-Flavell PJ, Howarth RJ, Crooks RO, Thomas NS, Bunyan DJ. Cross E, et al. Among authors: howarth rj. Eur J Med Genet. 2020 Jul;63(7):103940. doi: 10.1016/j.ejmg.2020.103940. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360764

4

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Cross E, Duncan-Flavell PJ, Howarth RJ, Hobbs JI, Thomas NS, Bunyan DJ. Cross E, et al. Among authors: howarth rj. Am J Med Genet A. 2020 Nov;182(11):2508-2520. doi: 10.1002/ajmg.a.61813. Epub 2020 Aug 21. Am J Med Genet A. 2020. PMID: 32827181

5

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.

Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC. Turner CL, et al. Among authors: howarth rj. Am J Med Genet A. 2009 Feb;149A(2):161-70. doi: 10.1002/ajmg.a.32593. Am J Med Genet A. 2009. PMID: 19161152

6

Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.

Howarth R, Yearwood C, Harvey JF. Howarth R, et al. Genet Test. 2007 Summer;11(2):146-52. doi: 10.1089/gte.2006.0514. Genet Test. 2007. PMID: 17627385

7

SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts.

Bunyan DJ, Hobbs JI, Duncan-Flavell PJ, Howarth RJ, Beal S, Baralle D, Thomas NS. Bunyan DJ, et al. Among authors: howarth rj. Cytogenet Genome Res. 2022;162(11-12):587-598. doi: 10.1159/000530171. Epub 2023 Mar 16. Cytogenet Genome Res. 2022. PMID: 36927524 Free article.

8

Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.

Bunyan DJ, Saran M, Hobbs JI, Anderson DJ, Duncan-Flavell PJ, Howarth RJ, Callaway JLA, MacPherson JN. Bunyan DJ, et al. Among authors: howarth rj. J Reprod Infertil. 2022 Oct-Dec;23(4):296-302. doi: 10.18502/jri.v23i4.10816. J Reprod Infertil. 2022. PMID: 36452190 Free PMC article.

9

Through a glass darkly: patients of the Illinois State Hospital for the Insane at Jacksonville, USA (1854-80).

Howarth RJ, Aleguas SA. Howarth RJ, et al. Hist Psychiatry. 2019 Jun;30(2):150-171. doi: 10.1177/0957154X18821059. Epub 2019 Jan 11. Hist Psychiatry. 2019. PMID: 30632810

10

Do ponds cause arsenic-pollution of groundwater in the Bengal basin? An answer from West Bengal.

Sengupta S, McArthur JM, Sarkar A, Leng MJ, Ravenscroft P, Howarth RJ, Banerjee DM. Sengupta S, et al. Among authors: howarth rj. Environ Sci Technol. 2008 Jul 15;42(14):5156-64. doi: 10.1021/es702988m. Environ Sci Technol. 2008. PMID: 18754363

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