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Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers

JNCI : Journal of the National Cancer Institute, 2001-11, Vol.93 (21), p.1633-1637

2001

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Microsatellite instability in colorectal cancer : Different mutator phenotypes and the principal involvement of hMLH1

Cancer research (Chicago, Ill.), 1998-04, Vol.58 (8), p.1713-1718

1998

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The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas

American journal of human genetics, 2001-10, Vol.69 (4), p.780-790

2001

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Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Human mutation, 2003-10, Vol.22 (4), p.313-325

2003

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Perceived Familial Risk of Cancer: Health Concerns and Psychosocial Adjustment

Journal of psychosocial oncology, 2000-07, Vol.18 (1), p.63-82

2000

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Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers

JNCI : Journal of the National Cancer Institute, 2001-11, Vol.93 (21), p.633-637

2001

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Parent-of-origin-specific signatures of de novo mutations

Nature genetics, 2016-08, Vol.48 (8), p.935-939

2016

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New observations on maternal age effect on germline de novo mutations

Nature communications, 2016-01, Vol.7 (1), p.10486-10486, Article 10486

2016

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Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: Physiologic and biochemical implications

Biochemical medicine and metabolic biology, 1992-02, Vol.47 (1), p.38-46

1992

Volltextzugriff (PDF)

Ultrastructure of an arterial lesion induced in rats by fenoldopam mesylate, a dopaminergic vasodilator

British journal of experimental pathology, 1989-04, Vol.70 (2), p.153

1989

Volltextzugriff (PDF)

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Genetics in medicine, 2016-03, Vol.18 (3), p.221-230

2016

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Genomic and molecular characterization of preterm birth

Proceedings of the National Academy of Sciences - PNAS, 2019-03, Vol.116 (12), p.5819-5827

2019

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis

Journal of clinical immunology, 2022-02, Vol.42 (2), p.350-364

2022

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Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

American journal of transplantation, 2006-03, Vol.6 (3), p.557-564

2006

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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

Molecular genetics and metabolism, 2023-06, Vol.139 (2), p.107605-107605, Article 107605

2023

Volltextzugriff (PDF)

Cloning and Characterization of the Human Type II Arginase Gene

Genomics (San Diego, Calif.), 1996-12, Vol.38 (2), p.118-123

1996

Volltextzugriff (PDF)

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.308-314

2012

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Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

Molecular genetics and metabolism, 2016-11, Vol.119 (3), p.187-206

2016

Volltextzugriff (PDF)

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.111-115

2013

Volltextzugriff (PDF)

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

American journal of human genetics, 2015-07, Vol.97 (1), p.170-176

2015

Volltextzugriff (PDF)

Targeted Disruption of Mouse Long-Chain Acyl-CoA Dehydrogenase Gene Reveals Crucial Roles for Fatty Acid Oxidation

Proceedings of the National Academy of Sciences - PNAS, 1998-12, Vol.95 (26), p.15592-15597

1998

Volltextzugriff (PDF)

Author Correction: Parent-of-origin-specific signatures of de novo mutations

Nature genetics, 2018-11, Vol.50 (11), p.1615-1615

2018

Volltextzugriff (PDF)

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Pediatric research, 2001, Vol.49 (1), p.18-23

2001

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Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

Human molecular genetics, 2001-09, Vol.10 (19), p.2069-2077

2001

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Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers

Microsatellite instability in colorectal cancer : Different mutator phenotypes and the principal involvement of hMLH1

The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas

Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Perceived Familial Risk of Cancer: Health Concerns and Psychosocial Adjustment

Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers

Parent-of-origin-specific signatures of de novo mutations

New observations on maternal age effect on germline de novo mutations

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: Physiologic and biochemical implications

Ultrastructure of an arterial lesion induced in rats by fenoldopam mesylate, a dopaminergic vasodilator

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Genomic and molecular characterization of preterm birth

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis

Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

Cloning and Characterization of the Human Type II Arginase Gene

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

Targeted Disruption of Mouse Long-Chain Acyl-CoA Dehydrogenase Gene Reveals Crucial Roles for Fatty Acid Oxidation

Author Correction: Parent-of-origin-specific signatures of de novo mutations

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

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