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The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape

Heart (British Cardiac Society), 2008-12, Vol.94 (12), p.1634-1638

2008

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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

American journal of human genetics, 1999-08, Vol.65 (2), p.308-317

1999

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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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Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Genetics in medicine, 2016-06, Vol.18 (6), p.570-576

2016

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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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BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta

The Journal of biological chemistry, 1993-08, Vol.268 (24), p.18226-18233

1993

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Osteogenesis Imperfecta

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

1992

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A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito

Nature genetics, 1996-07, Vol.13 (3), p.361-365

1996

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Cerebrovascular complications in Ehlers-Danlos syndrome type IV

Annals of neurology, 1995-12, Vol.38 (6), p.960-964

1995

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Folding defects in fibrillar collagens

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2001-02, Vol.356 (1406), p.151-158

2001

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Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

American journal of human genetics, 1999-08, Vol.65 (2), p.336-344

1999

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Osteogenesis imperfecta type I : molecular heterogeneity for COL1A1 null alleles of type I collagen

American journal of human genetics, 1994-10, Vol.55 (4), p.638-647

1994

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Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta

The Journal of pediatrics, 1996-04, Vol.128 (4), p.542-547

1996

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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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Successful Endovascular Repair of Acute Type B Aortic Dissection in Undiagnosed Ehlers–Danlos Syndrome Type IV

European journal of vascular and endovascular surgery, 2009-11, Vol.38 (5), p.608-609

2009

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Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

American journal of human genetics, 1988-02, Vol.42 (2), p.237-248

1988

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Molecular genetic pathology. Coming of age in the molecular world

The American journal of pathology, 1999-09, Vol.155 (3), p.673-674

Byers, P H

1999

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STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENESIS IMPERFECTA: A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES

Prenatal diagnosis, 1997-06, Vol.17 (6), p.559-570

1997

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Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Human genetics, 2000-01, Vol.106 (1), p.19-28

2000

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Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

The Journal of biological chemistry, 1985-02, Vol.260 (3), p.1734-1742

1985

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The Final Stage of Gene Expression: Chaperones and the Regulation of Protein Fate

American journal of human genetics, 1997-08, Vol.61 (2), p.267-272

1997

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Pedigrees—Publish? or Perish the Thought?

American journal of human genetics, 1998-09, Vol.63 (3), p.678-681

1998

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Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta

The Journal of biological chemistry, 1993-08, Vol.268 (24), p.18218-18225

1993

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Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

Nature (London), 1985-01, Vol.316 (6026), p.363-366

1985

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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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The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Collagens: building blocks at the end of the development line

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

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

BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta

Osteogenesis Imperfecta

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

Folding defects in fibrillar collagens

Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

Osteogenesis imperfecta type I : molecular heterogeneity for COL1A1 null alleles of type I collagen

Studies of collagen synthesis and structure in the differentiation of child abuse from 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

Successful Endovascular Repair of Acute Type B Aortic Dissection in Undiagnosed Ehlers–Danlos Syndrome Type IV

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

Molecular genetic pathology. Coming of age in the molecular world

STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENESIS IMPERFECTA: A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

The Final Stage of Gene Expression: Chaperones and the Regulation of Protein Fate

Pedigrees—Publish? or Perish the Thought?

Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

Osteogenesis imperfecta: perspectives and opportunities

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