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A tangled web: Dual diagnosis of hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformation

Pediatric blood & cancer, 2023-10, Vol.70 (10), p.e30499-n/a

2023

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Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review

American journal of medical genetics. Part A, 2007-11, Vol.143A (22), p.2722-2726

2007

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A null mutation in SERPINE1 protects against biological aging in humans

Science advances, 2017-11, Vol.3 (11), p.eaao1617-eaao1617

2017

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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders

Expert review of hematology, 2023-03, Vol.16 (sup1), p.39-54

2023

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Heterozygosity for Loss-of-Function Mutation in SERPINE1 (PAI-1 Gene) Linked with Longer Absolute Telomere Length

Blood, 2016-12, Vol.128 (22), p.4953-4953

2016

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Variable bleeding phenotype in an Amish pedigree with von Willebrand disease

American journal of hematology, 2016-10, Vol.91 (10), p.E431-E435

2016

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SNP Analysis Of The VWF GENE Identifies Multiple Common Variants THAT Affect VWF Levels and OCCUR At Different Frequencies In Patients With TYPE 1 VWD

Blood, 2013-11, Vol.122 (21), p.334-334

2013

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Identification of a Novel Familial Fibrotic Cardiomyopathy with a Loss-of-Function Mutation in SERPINE1

Journal of cardiac failure, 2017-08, Vol.23 (8), p.S3

2017

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002 - Identification of a Novel Familial Fibrotic Cardiomyopathy with a Loss-of-Function Mutation in SERPINE1

Journal of cardiac failure, 2017-08, Vol.23 (8), p.S3-S3

2017

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Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1

JAMA cardiology, 2021-07, Vol.6 (7), p.841

2021

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Bleeding Complications and Pregnancies in an Established Plasminogen Activator Inhibitor, Type-1 (PAI-1) Deficient Population

Blood, 2007-11, Vol.110 (11), p.2147-2147

2007

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A Tiered Management Program To Conserve Replacement Therapy Resources for a Rural Population of Women with Type 2M von Willebrand Disease during Labor and Delivery

Blood, 2007-11, Vol.110 (11), p.3961-3961

2007

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Bleeding Events and Factor IX Levels in Female Carriers from a Large Kindred of Hemophilia B

Blood, 2007-11, Vol.110 (11), p.1150-1150

2007

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Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits

Molecular genetics & genomic medicine, 2013-09, Vol.1 (3), p.131-141

2013

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Abstract 17320: Association of Loss-of-Function Mutation in SERPINE1 and Aging in Humans

Circulation (New York, N.Y.), 2016-11, Vol.134 (Suppl_1 Suppl 1), p.A17320-A17320

2016

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Abstract 20137: A Novel Form of Familial Fibrotic Cardiomyopathy Associated With Homozygous Loss-of-Function SERPINE1 Mutation

Circulation (New York, N.Y.), 2016-11, Vol.134 (Suppl_1 Suppl 1), p.A20137-A20137

2016

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Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review

American Journal of Medical Genetics Part A, 2007, Vol.143A (22), p.2722-2726

2007

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A tangled web: Dual diagnosis of hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformation

Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review

A null mutation in SERPINE1 protects against biological aging in humans

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders

Heterozygosity for Loss-of-Function Mutation in SERPINE1 (PAI-1 Gene) Linked with Longer Absolute Telomere Length

Variable bleeding phenotype in an Amish pedigree with von Willebrand disease

SNP Analysis Of The VWF GENE Identifies Multiple Common Variants THAT Affect VWF Levels and OCCUR At Different Frequencies In Patients With TYPE 1 VWD

Identification of a Novel Familial Fibrotic Cardiomyopathy with a Loss-of-Function Mutation in SERPINE1

002 - Identification of a Novel Familial Fibrotic Cardiomyopathy with a Loss-of-Function Mutation in SERPINE1

Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1

Prospective Data Collection on Patients with Fibrinogen and Factor XIII Deficiencies: Prelimary Results of the PRO-RBDD Project

Bleeding Complications and Pregnancies in an Established Plasminogen Activator Inhibitor, Type-1 (PAI-1) Deficient Population

A Tiered Management Program To Conserve Replacement Therapy Resources for a Rural Population of Women with Type 2M von Willebrand Disease during Labor and Delivery

Bleeding Events and Factor IX Levels in Female Carriers from a Large Kindred of Hemophilia B

Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits

Abstract 17320: Association of Loss-of-Function Mutation in SERPINE1 and Aging in Humans

Abstract 20137: A Novel Form of Familial Fibrotic Cardiomyopathy Associated With Homozygous Loss-of-Function SERPINE1 Mutation

Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review

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