Ghent University Academic Bibliography

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Your filters: cql: author="De Paepe, Anne*" or (type exact bookEditor and editor="De Paepe, Anne*")

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- Conference Paper
- C3
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family

Bart Leroy (UGent) , H Vermeersch, Franki Speleman (UGent) , Nadine Van Roy (UGent) , L Messiaen and Anne De Paepe (UGent)

(1995) GENETIC COUNSELING. 6(suppl.). p.84A-84A
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- Journal Article
- A1
Abnormal morphology of fibrillin microfibrils in fibroblast-cultures from patients with neonatal Marfan-Syndrome

M GODFREY, M RAGHUNATH, J CISLER, CL BEVINS, Anne De Paepe (UGent) , M DIROCCO, J GREGORITCH, K IMAIZUMI, P KAPLAN, Y KUROKI, et al.

(1995) AMERICAN JOURNAL OF PATHOLOGY. 146(6). p.1414-1421
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Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

Jean-Marie Naeyaert, Lieve Nuytinck (UGent) , Sylvia De Bie (UGent) , Hilde Beele (UGent) , André Kint and Anne De Paepe (UGent)

(1995) JOURNAL OF INVESTIGATIVE DERMATOLOGY. 104(5). p.803-805
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- Journal Article
- A1
Substitution of valine for glycine-793 in type-III procollagen in Ehlers-Danlos syndrome type-IV

Gerard Tromp, Anne De Paepe (UGent) , Lieve Nuytinck (UGent) , Swarna Madhatheri and Helena Kuivaniemi

(1995) HUMAN MUTATION. 5(2). p.179-181
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- Conference Paper
- C3
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype

Bart Leroy (UGent) , Ludwine Messiaen, Nadine Van Roy (UGent) , Franki Speleman (UGent) and Anne De Paepe (UGent)

(1995) VISION RESEARCH. 65(suppl.). p.3446-3446
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- Journal Article
- A1
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical glycine 502 serine substitutions in the α2 chain of type I collagen

NJ Rose, K MacKay, Anne De Paepe (UGent) , B Steinmann, HH Punnett and R Dalgleish

(1994) HUMAN GENETICS. 94(5). p.497-503
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- Journal Article
- A4
Fibromuscular dysplasia of the arteries: an arterial occlusive disease with severe neurological complications at young age

MN VAN THIENEN, Anne De Paepe (UGent) , Françoise Meire (UGent) , P PARIZEL, E VAN MARCK, Marleen Praet, JG LERO and J DUMON

(1994) Dysmorphology and genetics of cardiovascular disorders. Ed. Christos S. Bartsokas, P. Beighton, Athens, pp. 306-31 0.
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- Miscellaneous
Mutations in the gene for collagen type III: phenotypic spectrum and genotype-phenotype correlation

Anne De Paepe (UGent) , L NUYTINCK and Juliaan Leroy (UGent)

(1994) Dysmorphology and Genetics of Cardiovascular Disorders'. Eds. C.S. Bartsocas and P. Beighton, H15, pp 107-124.
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- Journal Article
- A1
Abnormal fibrillin morphology in fibroblast cultures from patients with neonatal Marfan syndrome

M Godfrey, M Raghunath, J Cisler, CL Bevins, Anne De Paepe (UGent) , J Gregoritch, K Imaizumi, P Kaplan, Y Kuroki, M Silberbach, et al.

(1994) JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. 30. p.103-107
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- Miscellaneous
Classification of pseudoxanthoma elasticum : report of a consensus conference

M Lebwohl, K Neldner, FM Pope, Anne De Paepe (UGent) , AM Christiano, CD Boyd, J Uitto and VA MC Kusick

(1994) JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. 30(1). p.103-107

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Academic Bibliography

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family

Abnormal morphology of fibrillin microfibrils in fibroblast-cultures from patients with neonatal Marfan-Syndrome

Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

Substitution of valine for glycine-793 in type-III procollagen in Ehlers-Danlos syndrome type-IV

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical glycine 502 serine substitutions in the α2 chain of type I collagen

Fibromuscular dysplasia of the arteries: an arterial occlusive disease with severe neurological complications at young age

Mutations in the gene for collagen type III: phenotypic spectrum and genotype-phenotype correlation

Abnormal fibrillin morphology in fibroblast cultures from patients with neonatal Marfan syndrome

Classification of pseudoxanthoma elasticum : report of a consensus conference

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