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Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

The New England journal of medicine, 2000-03, Vol.342 (10), p.673-680

2000

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Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

American journal of human genetics, 2004-05, Vol.74 (5), p.917-930

2004

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Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

American journal of human genetics, 2000-06, Vol.66 (6), p.1757-1765

2000

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Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic Heterogeneity

Journal of investigative dermatology, 1994-11, Vol.103 (5), p.S47-S52

Byers, Peter H

1994

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Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

Matrix biology, 2014-01, Vol.33, p.10-15

2014

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COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

Genetics in medicine, 2011-08, Vol.13 (8), p.717-722

2011

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Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience

Stem cells translational medicine, 2014-02, Vol.3 (2), p.255-264

2014

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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

Clinical genetics, 2015-02, Vol.87 (2), p.133-140

2015

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Osteogenesis Imperfecta

Annual review of medicine, 1992-01, Vol.43 (1), p.269-282

1992

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Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

Genetics in medicine, 2011-02, Vol.13 (2), p.125-130

2011

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Gene Targeting in Stem Cells from Individuals with Osteogenesis Imperfecta

Science (American Association for the Advancement of Science), 2004-02, Vol.303 (5661), p.1198-1201

2004

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Collagens: building blocks at the end of the development line

Clinical genetics, 2000-10, Vol.58 (4), p.270-279

Byers, PH

2000

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Genetic evaluation of suspected osteogenesis imperfecta (OI)

Genetics in medicine, 2006-06, Vol.8 (6), p.383-388

2006

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Type XXVII collagen at the transition of cartilage to bone during skeletogenesis

Bone (New York, N.Y.), 2007-10, Vol.41 (4), p.535-542

2007

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Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1

Matrix biology, 2003-03, Vol.22 (1), p.3-14

2003

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Determination of the molecular basis of Marfan syndrome: a growth industry

The Journal of clinical investigation, 2004-07, Vol.114 (2), p.161-163

Byers, Peter H

2004

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Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV

American journal of human genetics, 2001-11, Vol.69 (5), p.989-1001

2001

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Natural variation in four human collagen genes across an ethnically diverse population

Genomics (San Diego, Calif.), 2008-04, Vol.91 (4), p.307-314

2008

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Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Journal of medical genetics, 2002-06, Vol.39 (6), p.382-386

2002

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2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discuss

American journal of human genetics, 2006-03, Vol.78 (3), p.368-372

Byers, Peter H

2006

Volltextzugriff (PDF)

Delivery by Cesarean Section is not Associated With Decreased at-Birth Fracture Rates in Osteogenesis Imperfecta

Genetics in medicine, 2015-10, Vol.18 (6), p.570-576

2015

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2005 ASHG Award for Excellence in Human Genetics Education. Introductory speech of Joseph D. McInerney

American journal of human genetics, 2006-03, Vol.78 (3), p.373-373

Byers, Peter H

2006

Volltextzugriff (PDF)

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro- alpha 1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

American journal of human genetics, 2002-09, Vol.71 (3), p.451-465

2002

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Osteogenesis imperfecta: perspectives and opportunities

Current opinion in pediatrics, 2000-12, Vol.12 (6), p.603-609

Byers, P H

2000

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Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic Heterogeneity

Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

Osteogenesis Imperfecta

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

Gene Targeting in Stem Cells from Individuals with Osteogenesis Imperfecta

Collagens: building blocks at the end of the development line

Genetic evaluation of suspected osteogenesis imperfecta (OI)

Type XXVII collagen at the transition of cartilage to bone during skeletogenesis

Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1

Determination of the molecular basis of Marfan syndrome: a growth industry

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV

Natural variation in four human collagen genes across an ethnically diverse population

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discuss

Delivery by Cesarean Section is not Associated With Decreased at-Birth Fracture Rates in Osteogenesis Imperfecta

2005 ASHG Award for Excellence in Human Genetics Education. Introductory speech of Joseph D. McInerney

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro- alpha 1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Osteogenesis imperfecta: perspectives and opportunities

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