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Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma.
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- Journal of Cutaneous Pathology, 2015, v. 42, n. 4, p. 244, doi. 10.1111/cup.12475
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- Publication type:
- Article
Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 460, doi. 10.1111/j.1399-0004.1998.tb02595.x
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- Publication type:
- Article
General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1988, v. 543, n. 1, p. 129, doi. 10.1111/j.1749-6632.1988.tb55325.x
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- Publication type:
- Article
Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1988, v. 543, n. 1, p. 117, doi. 10.1111/j.1749-6632.1988.tb55324.x
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- Article
Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease.
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- Journal of Bone & Mineral Research, 2007, v. 22, n. 1, p. 119, doi. 10.1359/JBMR.061004
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- Publication type:
- Article
Distinct proliferative and differentiated stages of murine MC3T3-E1 cells in culture: An in vitro model of osteoblast development.
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- Journal of Bone & Mineral Research, 1992, v. 7, n. 6, p. 683, doi. 10.1002/jbmr.5650070613
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- Publication type:
- Article
Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 haplo-insufficient EhlersDanlos syndrome.
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- Journal of Cellular Biochemistry, 2004, v. 92, n. 1, p. 113, doi. 10.1002/jcb.20024
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- Article
The Impact of Test Outcome Certainty on Interest in Genetic Testing Among College Women.
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- Journal of Genetic Counseling, 2003, v. 12, n. 2, p. 131, doi. 10.1023/A:1022607223097
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- Publication type:
- Article
The Nf1 Tumor Suppressor Regulates Mouse Skin Wound Healing, Fibroblast Proliferation, and Collagen Deposited by Fibroblasts.
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- Journal of Investigative Dermatology, 1999, v. 112, n. 6, p. 835, doi. 10.1046/j.1523-1747.1999.00609.x
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- Publication type:
- Article
Body Surface Area-based Dosing of 5-Fluoruracil Results in Extensive Interindividual Variability in 5-Fluorouracil Exposure in Colorectal Cancer Patients on FOLFOX Regimens.
- Published in:
- Clinical Colorectal Cancer, 2011, v. 10, n. 3, p. 203, doi. 10.1016/j.clcc.2011.03.015
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- Publication type:
- Article
Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine.
- Published in:
- Clinical Pharmacology & Therapeutics, 2019, v. 105, n. 1, p. 49, doi. 10.1002/cpt.1165
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- Publication type:
- Article
ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development.
- Published in:
- Developmental Dynamics, 2006, v. 235, n. 12, p. 3295, doi. 10.1002/dvdy.20980
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- Publication type:
- Article
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 3993, doi. 10.1093/hmg/dds222
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- Publication type:
- Article
Construction of a Full-Length Murine Proα2(I) Collagen cDNA by the Polymerase Chain Reaction.
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- Journal of Investigative Dermatology, 1991, v. 97, n. 6, p. 980, doi. 10.1111/1523-1747.ep12491894
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- Publication type:
- Article
DNA Sequence Analysis and Restriction Fragment Length Polymorphism (RFLP) Typing of the HLA-DQw2 Alleles Associated with Dermatitis Herpetiformis.
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- Journal of Investigative Dermatology, 1991, v. 97, n. 2, p. 318, doi. 10.1111/1523-1747.ep12480580
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- Publication type:
- Article
An HLA Class II Region Restriction Fragment Length Polymorphism (RFLP) in Patients with Dermatitis Herpetiformis: Association with HLA-DP Phenotype.
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- Journal of Investigative Dermatology, 1990, v. 95, n. 2, p. 172, doi. 10.1111/1523-1747.ep12477943
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- Publication type:
- Article
1025. Therapeutic Effect of a Self-Cleaving Hammerhead Ribozyme in a Mouse Model of Osteogenesis Imperfecta.
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- Molecular Therapy, 2006, v. 13, p. S394, doi. 10.1016/j.ymthe.2006.08.1120
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- Publication type:
- Article
Endogenously Expressed Multimeric Self-Cleaving Hammerhead Ribozymes Ablate Mutant Collagen in Cellulo
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- Molecular Therapy, 2005, v. 12, n. 1, p. 128, doi. 10.1016/j.ymthe.2005.02.015
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- Publication type:
- Article
An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi.
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- 2017
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- Publication type:
- journal article
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
- Published in:
- 2015
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- Publication type:
- Journal Article
Frequency of mutations in individuals with breast cancer referred for BRCA 1 and BRCA 2 testing using next-generation sequencing with a 25-gene panel.
- Published in:
- Cancer (0008543X), 2015, v. 121, n. 1, p. 25, doi. 10.1002/cncr.29010
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- Publication type:
- Article
Clinical significance of large rearrangements in BRCA1 and BRCA2.
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- 2012
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- Publication type:
- journal article
Clinical significance of large rearrangements in BRCA1 and BRCA2.
- Published in:
- Cancer (0008543X), 2012, v. 118, n. 21, p. 5210, doi. 10.1002/cncr.27556
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- Publication type:
- Article
Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
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- Cancer (0008543X), 2012, v. 118, n. 11, p. 2787, doi. 10.1002/cncr.26576
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- Publication type:
- Article
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.
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- 2009
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- Publication type:
- journal article
Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
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- Oncology, 2015, v. 89, n. 5, p. 288, doi. 10.1159/000437307
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- Article
Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas.
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- JAMA: Journal of the American Medical Association, 2012, v. 308, n. 5, p. 485, doi. 10.1001/jama.2012.8780
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- Publication type:
- Article
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease.
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- Human Mutation, 1992, v. 1, n. 1, p. 47, doi. 10.1002/humu.1380010108
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- Publication type:
- Article
Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 249, doi. 10.1093/hmg/7.2.249
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- Article
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I).
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1733, doi. 10.1093/hmg/5.11.1733
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- Publication type:
- Article