Sharon D. Whatley

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Early onset seizures and Rett-like features associated with mutations in CDKL5

Julie Claire Evans, Hayley L Archer, +15 authors Angus J Clarke
European Journal of Human Genetics
2005

Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes… (More)

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Sharon D. Whatley, Sarah Ducamp, +15 authors H. S. Puy
American journal of human genetics
2008

All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either… (More)

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

Julie Claire Evans, Hayley L Archer, Sharon D. Whatley, Alison Kerr, Angus Clarke, Rachel K. Butler
European Journal of Human Genetics
2005

Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter… (More)

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and…

Jérĵme Lamoril, H. S. Puy, +5 authors George H. Elder
American journal of human genetics
2001

Hereditary coproporphyria (HCP) is the least common of the autosomal dominant acute hepatic porphyrias. It results from mutations in the CPO gene that encodes the mitochondrial enzyme,… (More)

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

Andrew G. Roberts, Sharon D. Whatley, Rhian R Morgan, Mark Worwood, George H. Elder
The Lancet
1997

BACKGROUND Sporadic porphyria cutanea tarda is a skin disease associated with hepatic siderosis. Depletion of iron stores by phlebotomy is curative. The role of haemochromatosis genes in determining… (More)

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Hayley L Archer, Sharon D. Whatley, +23 authors Angus J Clarke
Journal of medical genetics
2006

MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett… (More)

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

Sharon D. Whatley, H. S. Puy, +5 authors J. Ch. Deybach
American journal of human genetics
1999

Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It results from… (More)

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

Sharon D. Whatley, Nicola G. Mason, +8 authors George H. Elder
Journal of medical genetics
2004

E rythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder of haem biosynthesis characterised by the onset in early childhood of lifelong acute photosensitivity of sun-exposed skin. It… (More)

Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations

Sharon D. Whatley, Jackie R. Woolf, George H. Elder
Human Genetics
1999

Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the… (More)

The molecular genetics of erythropoietic protoporphyria.

George H. Elder, Laurent Gouya, Sharon D. Whatley, H. S. Puy, Michael N. Badminton, J C Deybach
Cellular and molecular biology
2009

Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients,… (More)

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