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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

Enhanced levels of both the membrane-bound and soluble forms of IgM Fc receptor (FcμR) in patients with chronic lymphocytic leukemia

Fu Jun Li, Yoshiki Kubagawa, Matthew K. McCollum, Landon Wilson, Tomoko Motohashi, Luigi F. Bertoli, James C. Barton, Stephen Barnes, Randall S. Davis, Hiromi Kubagawa

Blood (2011) 118 (18): 4902–4909.

https://doi.org/10.1182/blood-2011-04-350793

Published: 2011

Includes: Supplemental data

Journal Articles

How I treat hemochromatosis

Paul C. Adams, James C. Barton

Blood (2010) 116 (3): 317–325.

https://doi.org/10.1182/blood-2010-01-261875

Published: 2010

Journal Articles

Ferritin >1000: grand for hemochromatosis screening?

James C. Barton

Blood (2008) 111 (7): 3309.

https://doi.org/10.1182/blood-2008-01-127118

Published: 2008

Journal Articles

Subpopulations with Iron Deficiency, Liver Disease, or HFE Mutations Revealed by Statistical Mixture Modeling of Transferrin Saturation and Serum Ferritin Concentration in Asians, African Americans, Hispanics, and Whites.

Christine E. McLaren, PhD, Victor R. Gordeuk, M.D., Wen-Pin Chen, M.S., James C. Barton, M.D., Ronald T. Acton, Ph.D., Mark Speechley, Ph.D., Oswaldo Castro, M.D., Paul C. Adams, M.D., Beverly M. Snively, Ph.D., Emily L. Harris, Ph.D., David M. Reboussin, Ph.D., Geoffrey J. McLachlan, Ph.D., Richard Bean, Ph.D., Gordon D. McLaren, M.D.

Blood (2007) 110 (11): 2672.

https://doi.org/10.1182/blood.V110.11.2672.2672

Published: 2007

Journal Articles

Symptoms and Signs of Hemochromatosis in HFE C282Y Homozygotes Identified by Screening in Primary Care.

Gordon D. McLaren, MD, Christine E. McLaren, Ph.D., Paul C. Adams, M.D., James C. Barton, M.D., David M. Reboussin, Ph.D., Victor R. Gordeuk, M.D., Ronald T. Acton, Ph.D., Emily L. Harris, Ph.D., Mark Speechley, Ph.D., Phyliss Sholinsky, MSPH, Fitzroy W. Dawkins, M.D., Beverly M. Snively, Ph.D., Thomas Vogt, M.D., John H. Eckfeldt, M.D., Ph.D.

Blood (2006) 108 (11): 1545.

https://doi.org/10.1182/blood.V108.11.1545.1545

Published: 2006

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

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

Iron Overload in an African American Woman with SS Hemoglobinopathy and a Promoter Mutation in the X-Linked Erythroid-Specific 5-Aminolevulinate Synthase ( ALAS2 ) Gene.

James C. Barton, M.D., Pauline L. Lee, Ph.D., Luigi F. Bertoli, M.D., Ernest Beutler, M.D.

Blood (2004) 104 (11): 3683.

https://doi.org/10.1182/blood.V104.11.3683.3683

Published: 2004

Journal Articles

Hemojuvelin Mutations in Whites, Blacks and Asians with Primary Iron Overload and in Control Subjects.

Pauline L. Lee, James C. Barton, David J. Brandhagen, Sandrine Niyongere, Sean Bohannon, Charles A. Rivers, Ronald A. Acton, Ernest Beutler

Blood (2004) 104 (11): 3198.

https://doi.org/10.1182/blood.V104.11.3198.3198

Published: 2004

Journal Articles

Initial Screening Transferrin Saturations, Serum Ferritin Concentrations, and HFE Genotypes in Whites and Blacks in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

James C. Barton, M.D., Ronald T. Acton, Ph.D., Fitzroy W. Dawkins, M.D., Paul C. Adams, M.D., Laura Lovato, M.S., Cathy Leiendecker-Foster, M.S., Christine E. McLaren, Ph.D., David M. Reboussin, Ph.D., Mark R. Speechley, Ph.D., Victor R. Gordeuk, M.D., Gordon D. McLaren, M.D., Phyliss Sholinsky, M.S.P.H., Emily L. Harris, Ph.D., M.P.H.

Blood (2004) 104 (11): 3202.

https://doi.org/10.1182/blood.V104.11.3202.3202

Published: 2004

Journal Articles

Geographic and Racial/Ethnic Differences in HFE Mutation Frequencies and Iron Phenotypes in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Ronald T. Acton, Ph.D., Beverly M. Snively, Ph.D., James C. Barton, M.D., Paul C. Adams, M.D., John H. Eckfeldt, M.D., Ph.D., Emily L. Harris, Ph.D., Fitzroy W. Dawkins, M.D., Christine E. McLaren, Ph.D., Victor R. Gordeuk, M.D., Gordon D. McLaren, M.D., David M. Reboussin, Ph.D., Phyliss Sholinsky, M.S.P.H, Mark R. Speechley, Ph.D., Joan Holup, M.A., Cathy Leiendecker-Foster, M.S.

Blood (2004) 104 (11): 3211.

https://doi.org/10.1182/blood.V104.11.3211.3211

Published: 2004

Journal Articles

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin

Pauline L. Lee, Ernest Beutler, Sreenivas V. Rao, James C. Barton

Blood (2004) 103 (12): 4669–4671.

https://doi.org/10.1182/blood-2004-01-0072

Published: 2004

Includes: Supplemental data

Journal Articles

Coinheritance of Alleles Associated With Hemochromatosis and Hereditary Hyperferritinemia-Cataract Syndrome

James C. Barton, Ernest Beutler, Terri Gelbart

Blood (1998) 92 (11): 4480–4481.

https://doi.org/10.1182/blood.V92.11.4480

Published: 1998

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

Enhanced levels of both the membrane-bound and soluble forms of IgM Fc receptor (FcμR) in patients with chronic lymphocytic leukemia

How I treat hemochromatosis

Ferritin >1000: grand for hemochromatosis screening?

Subpopulations with Iron Deficiency, Liver Disease, or HFE Mutations Revealed by Statistical Mixture Modeling of Transferrin Saturation and Serum Ferritin Concentration in Asians, African Americans, Hispanics, and Whites.

Symptoms and Signs of Hemochromatosis in HFE C282Y Homozygotes Identified by Screening in Primary Care.

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.

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.

Iron Overload in an African American Woman with SS Hemoglobinopathy and a Promoter Mutation in the X-Linked Erythroid-Specific 5-Aminolevulinate Synthase ( ALAS2 ) Gene.

Hemojuvelin Mutations in Whites, Blacks and Asians with Primary Iron Overload and in Control Subjects.

Initial Screening Transferrin Saturations, Serum Ferritin Concentrations, and HFE Genotypes in Whites and Blacks in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Geographic and Racial/Ethnic Differences in HFE Mutation Frequencies and Iron Phenotypes in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin

Coinheritance of Alleles Associated With Hemochromatosis and Hereditary Hyperferritinemia-Cataract Syndrome

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