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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

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

Initial Screening Transferrin Saturation Values, Serum Ferritin Concentrations, and HFE Genotypes in Native Americans and Whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

James C. Barton, MD, Ronald T. Acton, PhD, Laura Lovato, MS, Mark R. Speechley, PhD, Christine E. McLaren, PhD, Emily L. Harris, PhD, M.P.H., David M. Reboussin, PhD, Paul C. Adams, MD, Fitzroy W. Dawkins, MD, Victor R. Gordeuk, MD, Ann P. Walker, M.A.

Blood (2005) 106 (11): 3712.

https://doi.org/10.1182/blood.V106.11.3712.3712

Published: 2005

Journal Articles

Relationships of Serum Ferritin, Transferrin Saturation, and HFE Mutations and Self-Reported Diabetes Mellitus in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Ronald T. Acton, PhD, James C. Barton, MD, Leah Passmore, MS, Paul C. Adams, MD, Mark R. Speechley, PhD, Fitzroy W. Dawkins, MD, Phyliss Sholinsky, MSP.H., David M. Reboussin, PhD, Gordon D. McLaren, MD, Emily L. Harris, PhD, M.P.H., Thomas C. Bent, MD, Thomas Vogt, MD, M.P.H., Oswaldo Castro, MD

Blood (2005) 106 (11): 3713.

https://doi.org/10.1182/blood.V106.11.3713.3713

Published: 2005

Journal Articles

Three Kinships with ALAS2 P520L Mutations, Two in Association with Severe Iron Overload, and One with Sideroblastic Anemia and Severe Iron Overload.

Pauline L. Lee, PhD, James C. Barton, MD, Sreenivas V. Rao, MD, Ronald T. Acton, PhD, Brian K. Adler, MD, Ernest Beutler, MD

Blood (2005) 106 (11): 3723.

https://doi.org/10.1182/blood.V106.11.3723.3723

Published: 2005

Journal Articles

Examination of ALAS2 , ABC7 , Rag1 , and IL6 Genes as Candidate Modifiers of Iron Overload in HFE C282Y Homozygotes with Severe Iron Overload.

Pauline L. Lee, PhD, James C. Barton, MD, Carol West, AA, Karen Crain, BS, Sreenivas V. Rao, MD, Ernest Beutler, MD

Blood (2005) 106 (11): 3724.

https://doi.org/10.1182/blood.V106.11.3724.3724

Published: 2005

NARROW

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

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

Initial Screening Transferrin Saturation Values, Serum Ferritin Concentrations, and HFE Genotypes in Native Americans and Whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Relationships of Serum Ferritin, Transferrin Saturation, and HFE Mutations and Self-Reported Diabetes Mellitus in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Three Kinships with ALAS2 P520L Mutations, Two in Association with Severe Iron Overload, and One with Sideroblastic Anemia and Severe Iron Overload.

Examination of ALAS2 , ABC7 , Rag1 , and IL6 Genes as Candidate Modifiers of Iron Overload in HFE C282Y Homozygotes with Severe Iron Overload.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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