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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, 2008-09, Vol.83 (3), p.408-414

2008

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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 (Baltimore, Md.), 2009-07, Vol.55 (7), p.1406-1414

2009

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Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

Journal of investigative dermatology, 2009-03, Vol.129 (3), p.599-605

2009

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Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells

Blood, 2006-01, Vol.107 (1), p.60-62

2006

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X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia

British journal of haematology, 2016-05, Vol.173 (3), p.482-484

2016

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Symptomatic response of erythropoietic protoporphyria to iron supplementation

Journal of the American Academy of Dermatology, 2007-06, Vol.56 (6), p.1070-1072

2007

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Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation

European journal of medical genetics, 2020-09, Vol.63 (9), p.103972-103972, Article 103972

2020

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NTNG1 mutations are a rare cause of Rett syndrome

American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.691-694

2006

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Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria

American journal of human genetics, 2001-05, Vol.68 (5), p.1130-1138

2001

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Late-Onset Erythropoietic Porphyria Caused by a Chromosome 18q Deletion in Erythroid Cells

Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1647-1649

2001

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

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1113-1120

2005

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Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria

Clinical chemistry (Baltimore, Md.), 2013-07, Vol.59 (7), p.1123-1125

2013

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

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1172-1175

2011

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

The Lancet (British edition), 1997-02, Vol.349 (9048), p.321-323

1997

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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

American journal of human genetics, 1999-10, Vol.65 (4), p.984-994

1999

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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1121-1130

2005

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

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.124-126

2005

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Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda

Journal of investigative dermatology, 2000-11, Vol.115 (5), p.868-874

2000

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Exonic deletions as a cause of erythropoietic protoporphyria

Annals of clinical biochemistry, 2006-05, Vol.43 (Pt 3), p.229

2006

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Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

Human genetics, 2000-09, Vol.107 (3), p.243-248

2000

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Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23

Human molecular genetics, 1995-12, Vol.4 (12), p.2387-2390

1995

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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

Human genetics, 1999-06, Vol.104 (6), p.505-510

1999

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The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda

Hepatology (Baltimore, Md.), 1997-01, Vol.25 (1), p.159-161

1997

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Molecular characterization of homozygous variegate porphyria

Human molecular genetics, 1998-11, Vol.7 (12), p.1921-1925

1998

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Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology

Clinical chemistry (Baltimore, Md.), 1998-11, Vol.44 (11), p.2360-2362

1998

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C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

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

Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance

Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells

X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia

Symptomatic response of erythropoietic protoporphyria to iron supplementation

Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation

NTNG1 mutations are a rare cause of Rett syndrome

Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria

Late-Onset Erythropoietic Porphyria Caused by a Chromosome 18q Deletion in Erythroid Cells

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

Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria

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

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

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

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

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

Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda

Exonic deletions as a cause of erythropoietic protoporphyria

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23

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

The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda

Molecular characterization of homozygous variegate porphyria

Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology

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