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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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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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Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

Journal of medical genetics, 2009-09, Vol.46 (9), p.607-613

2009

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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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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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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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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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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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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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Marfan syndrome : defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

The Journal of clinical investigation, 1992, Vol.89 (1), p.79-86

1992

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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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Aortic root complications in Marfan's syndrome: identification of a lower risk group

Heart (British Cardiac Society), 1996-04, Vol.75 (4), p.389-395

1996

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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

Byers, P H

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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Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism

Clinical genetics, 2003-06, Vol.63 (6), p.510-515

2003

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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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Constitutive Skipping of Alternatively Spliced Exon 10 in the ATP7A Gene Abolishes Golgi Localization of the Menkes Protein and Produces the Occipital Horn Syndrome

Human molecular genetics, 1998-03, Vol.7 (3), p.465-469

1998

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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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Mutations in the COL3A1 Gene Result in the Ehlers–Danlos Syndrome Type IV and Alterations in the Size and Distribution of the Major Collagen Fibrils of the Dermis

Journal of investigative dermatology, 1997-03, Vol.108 (3), p.241-247

1997

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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

Volltextzugriff (PDF)

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

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

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

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

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

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

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

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)

Osteogenesis Imperfecta

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

Marfan syndrome : defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

Aortic root complications in Marfan's syndrome: identification of a lower risk group

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

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism

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

Constitutive Skipping of Alternatively Spliced Exon 10 in the ATP7A Gene Abolishes Golgi Localization of the Menkes Protein and Produces the Occipital Horn Syndrome

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

Mutations in the COL3A1 Gene Result in the Ehlers–Danlos Syndrome Type IV and Alterations in the Size and Distribution of the Major Collagen Fibrils of the Dermis

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

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