George H. Elder - Publications, H-index & Citations

George H. Elder

assistance publique hopitaux paris (aphp)

46H指数

221论文数

6.3K被引数

收录论文 28

发表时间

From chemistry to genomics: A concise history of the porphyrias

LIVER INTERNATIONAL

IF5.2

2024-05-20

PREAI

Badminton, Michael N.; Anderson, Karl E.; Deybach, Jean-Charles; Harper, Pauline; Sandberg, Sverre; Elder, George H.

European Specialist Porphyria Laboratories: Diagnostic Strategies, Analytical Quality, Clinical Interpretation, and Reporting As Assessed by an External Quality Assurance Program

CLINICAL CHEMISTRY

IF6.3

2011-11-01

OAAI

Aarsand, Aasne K.; Villanger, Jorild H.; Stole, Egil; Deybach, Jean-Charles; Marsden, Joanne; To-Figueras, Jordi; Badminton, Mike; Elder, George H.; Sandberg, Sverre

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2011-05-01

OAAI

Sarkany, Robert P. E.; Ibbotson, Sally H.; Whatley, Sharon D.; Lawrence, Clifford M.; Gover, Pamela; Mufti, Ghulam J.; Murphy, Gillian M.; Masters, Gillian S.; Badminton, Michael N.; Elder, George H.

Complex Gene-Chemical Interactions: Hepatic Uroporphyria As a Paradigm

CHEMICAL RESEARCH IN TOXICOLOGY

IF3.8

2010-01-25

PREAI

Smith, Andrew G.; Elder, George H.

Molecular epidemiology of erythropoietic protoporphyria in the UK

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2010-01-22

PREAI

Whatley, S. D.; Mason, N. G.; Holme, S. A.; Anstey, A. V.; Elder, G. H.; Badminton, M. N.

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma - reply

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2009-10-01

PREAI

Holme, S. A.; Anstey, A. V.; Whatley, S. D.; Elder, G. H.; Badminton, M. N.

Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene

CLINICAL CHEMISTRY

IF6.3

2009-07-01

OAAI

Whatley, Sharon D.; Mason, Nicola G.; Woolf, Jacqueline R.; Newcombe, Robert G.; Elder, George H.; Badminton, Michael N.

Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2009-03-01

OAAI

Holme, S. Alexander; Whatley, Sharon D.; Roberts, Andrew G.; Anstey, Alexander V.; Elder, George H.; Ead, Russell D.; Stewart, M. Felicity; Farr, Peter M.; Lewis, Helen M.; Davies, Nicholas; White, Marion I.; Ackroyd, R. Simon; Badminton, Michael N.

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2008-09-01

245

OAAI

Whatley, Sharon D.; Ducamp, Sarah; Gouya, Laurent; Grandchamp, Bernard; Beaumont, Carole; Badminton, Michael N.; Elder, George H.; Holme, Alexander; Anstey, Alexander V.; Parker, Michelle; Corrigall, Anne V.; Meissner, Peter N.; Hift, Richard J.; Marsden, Joanne T.; Ma, Yun; Mieli-Vergani, Giorgina; Deybach, Jean-Charles; Puy, Herve

Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2007-12-01

OAAI

Whatley, Sharon D.; Mason, Nicola G.; Holme, S. Alexander; Anstey, Alex V.; Elder, George H.; Badminton, Michael N.

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2007-11-01

PREAI

Berroeta, L.; Man, I.; Goudie, D. R.; Whatley, S. D.; Elder, G. H.; Ibbotson, S. H.