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Journal Articles

Increased Allele Frequency of GNPAT p.D519G in Compound HFE p.C282Y/p.H63D Heterozygotes with Elevated Serum Ferritin Levels

Eriza S. Secondes, BSc (Honors), Daniel F. Wallace, PhD, Gautam Rishi, PhD, Gordon D. McLaren, MD, Christine E. McLaren, PhD, Wen-Pin Chen, MS, Louise Ramm, BSc, Lawrie W. Powell, MD PhD, Grant A. Ramm, PhD, James C. Barton, MD, V. Nathan Subramaniam, PhD

Blood (2019) 134 (Supplement_1): 4807.

https://doi.org/10.1182/blood-2019-128240

Published: 2019

Journal Articles

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

Kam Sandhu, Kaledas Flintoff, Mark D. Chatfield, Jeannette L. Dixon, Louise E. Ramm, Grant A. Ramm, Lawrie W. Powell, V. Nathan Subramaniam, Daniel F. Wallace

Blood (2018) 132 (1): 101–110.

https://doi.org/10.1182/blood-2018-02-830562

Published: 2018

Includes: Supplemental data

Journal Articles

Association of GNPAT p.D519G with Higher Iron Phenotypes in Women with HFE p.C282Y Homozygosity

Gordon D. McLaren, MD, Pradyumna D. Phatak, MBBS, James C. Barton, MD, John D. Phillips, PhD, Wen-Pin Chen, MS, V. Nathan Subraminiam, PhD, Paul C. Adams, MD, Lyle C. Gurrin, PhD, Gregory J. Anderson, BSc, MSc, PhD, Grant A. Ramm, PhD, Lawrie W. Powell, MD PhD, Charles J. Parker, MD, Mary J. Emond, PhD, Christine E. McLaren, PhD

Blood (2017) 130 (Supplement 1): 2216.

https://doi.org/10.1182/blood.V130.Suppl_1.2216.2216

Published: 2017

Journal Articles

GNPAT p.D519G is Independently Associated with Markedly Increased Iron Stores in HFE p.C282Y Homozygotes

James C. Barton, MD, Wen-Pin Chen, MS, Mary J. Emond, PhD, Pradyumna D. Phatak, MD, V. Nathan Subramaniam, PhD, Paul C. Adams, MD, Lyle C. Gurrin, PhD, Gregory J. Anderson, BSc, MSc, PhD, Grant A. Ramm, PhD, Lawrie W. Powell, MD, PhD, Katrina J. Allen, FRACP, MD PhD, John D. Phillips, PhD, Charles J. Parker, MD, Gordon D. McLaren, MD, Christine E. McLaren, PhD

Blood (2016) 128 (22): 3617.

https://doi.org/10.1182/blood.V128.22.3617.3617

Published: 2016

Journal Articles

Exome Sequencing Identifies a GNPAT Variant Associated with Severe Iron Overload in HFE C282Y Homozygous Men with Extreme Phenotypes; Possible Role in Regulation of Hepcidin Expression

Gordon D. McLaren, MD, Mary J. Emond, PhD, V. Nathan Subramaniam, PhD, Pradyumna D. Phatak, MD, James C. Barton, MD, Paul C. Adams, MD, Justin B. Goh, PhD, Cameron J. McDonald, PhD, Lawrie W. Powell, MD PhD, Lyle C. Gurrin, PhD, Katrina J. Allen, MBBS, PhD, Deborah A. Nickerson, PhD, Tin Louie, MS, Grant A. Ramm, PhD, Gregory J. Anderson, PhD, Christine E. McLaren, PhD

Blood (2014) 124 (21): 745.

https://doi.org/10.1182/blood.V124.21.745.745

Published: 2014

Journal Articles

Exome Sequencing Identifies Genes and Variant Alleles Associated With Severity Of Iron Overload In Hemochromatosis HFE C282Y Homozygotes

Christine E. McLaren, PhD, Mary J. Emond, PhD, Pradyumna D. Phatak, MD, Paul C. Adams, MD, V. Nathan Subramaniam, PhD, James C. Barton, MD, Lawrie W. Powell, MD, PhD, Lyle C. Gurrin, PhD, Katrina J. Allen, MBBS, PhD, Deborah A. Nickerson, PhD, Tin Louie, MS, Grant A. Ramm, PhD, Gregory J. Anderson, PhD, Gordon D. McLaren, MD

Blood (2013) 122 (21): 179.

https://doi.org/10.1182/blood.V122.21.179.179

Published: 2013

Journal Articles

Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis

Marnie J. Wood, Lawrie W. Powell, Grant A. Ramm

Blood (2008) 111 (9): 4456–4462.

https://doi.org/10.1182/blood-2007-11-122374

Published: 2008

Journal Articles

Expression of the Iron Regulatory Peptide Hepcidin Is Reduced in Patients with Chronic Liver Disease.

Greg Anderson, PhD, David M. Frazer, PhD, Kim R. Bridle, PhD, Graeme A. Macdonald, MD, PhD, Jeffrey L. Smith, PhD, Bruno Turlin, MD, Nathan Subramaniam, PhD, Darrell H. Crawford, MD, PhD, Lawrie W. Powell, MD, PhD, Grant A. Ramm, PhD

Blood (2005) 106 (11): 3591.

https://doi.org/10.1182/blood.V106.11.3591.3591

Published: 2005

Journal Articles

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Daniel F. Wallace, Palle Pedersen, Jeannette L. Dixon, Peter Stephenson, Jeffrey W. Searle, Lawrie W. Powell, V. Nathan Subramaniam

Blood (2002) 100 (2): 692–694.

https://doi.org/10.1182/blood.V100.2.692

Published: 2002

Includes: Supplemental data

Journal Articles

Neonatal Screening for the Hemochromatosis Defect

Lara M. Cullen, Lesa Summerville, Tina V. Glassick, Darrell H.G. Crawford, Lawrie W. Powell, Elizabeth C. Jazwinska

Blood (1997) 90 (10): 4236.

https://doi.org/10.1182/blood.V90.10.4236

Published: 1997

NARROW

Increased Allele Frequency of GNPAT p.D519G in Compound HFE p.C282Y/p.H63D Heterozygotes with Elevated Serum Ferritin Levels

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

Association of GNPAT p.D519G with Higher Iron Phenotypes in Women with HFE p.C282Y Homozygosity

GNPAT p.D519G is Independently Associated with Markedly Increased Iron Stores in HFE p.C282Y Homozygotes

Exome Sequencing Identifies a GNPAT Variant Associated with Severe Iron Overload in HFE C282Y Homozygous Men with Extreme Phenotypes; Possible Role in Regulation of Hepcidin Expression

Exome Sequencing Identifies Genes and Variant Alleles Associated With Severity Of Iron Overload In Hemochromatosis HFE C282Y Homozygotes

Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis

Expression of the Iron Regulatory Peptide Hepcidin Is Reduced in Patients with Chronic Liver Disease.

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Neonatal Screening for the Hemochromatosis Defect

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American Society of Hematology

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American Society of Hematology

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