Heritable Disorders of Connective Tissues

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Heritable Disorders of Connective Tissue

1960 • 1,560 citations

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

1986 • 1,129 citations

Disorders of transsulfuration

1989 • 1,053 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1967 • 1,002 citations

The Marfan Syndrome: Diagnosis and Management

1979 • 901 citations

Principles and Practice of Medical Genetics

1984 • 769 citations

Life Expectancy and Causes of Death in the Marfan Syndrome

1972 • 752 citations

Structure and Biology of Proteoglycans

1988 • 707 citations

International nosology of heritable disorders of connective tissue, Berlin, 1986

1988 • 704 citations

Structure and Function of Collagen Types

1987 • 653 citations

Heritable disorders of connective tissue

1955 • 445 citations

A Heritable Disorder of Connective Tissue

1972 • 412 citations

Echocardiographic measurements in normal subjects. Growth-related changes that occur between infancy and early adulthood.

1978 • 303 citations

Embryonic lethal mutation in mouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death

1984 • 285 citations

Cell-Matrix Interactions and Cell Adhesion During Development

1986 • 276 citations

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1973 • 257 citations

Maternal and fetal complications of pregnancy in the Marfan syndrome

1981 • 250 citations

Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

1989 • 248 citations

Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study.

1975 • 244 citations

The eye in the Marfan syndrome.

1981 • 244 citations

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene

1988 • 235 citations

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

1988 • 228 citations

Echocardiographic Findings in Autosomal Dominant Polycystic Kidney Disease

1988 • 220 citations

Dural ectasia is a common feature of the Marfan syndrome.

1988 • 214 citations

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

1984 • 207 citations

X-Linked Cutis Laxa

1980 • 206 citations

A "new" blood-group character related to the ABO system. 1952.

2008 • 206 citations

Surgical Treatment of Aneurysms of the Ascending Aorta in the Marfan Syndrome

1986 • 204 citations

Aortic Dissection and Dissecting Aortic Aneurysms

1988 • 203 citations

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

1984 • 195 citations

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

1988 • 192 citations

Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild Chondrodysplasia

1990 • 185 citations

The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen

1987 • 185 citations

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

1989 • 180 citations

The Spectrum of Cardiac Defects in the Ehlers-Danlos Syndrome, Types I and III

1980 • 162 citations

Spontaneous arterial perforation: The Ehlers-Danlos specter

1987 • 161 citations

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1980 • 160 citations

Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.

1979 • 156 citations

Glycine to serine substitution in the triple helical domain of pro-α 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

1989 • 153 citations

The Ehlers-Danlos syndrome

1970 • 151 citations

PREGNANCY COMPLICATIONS IN TYPE IV EHLERS-DANLOS SYNDROME

1983 • 148 citations

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1988 • 146 citations

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

1990 • 144 citations

Pneumothorax in the Marfan Syndrome: Prevalence and Therapy

1984 • 141 citations

The marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age

1983 • 132 citations

Anchoring Fibrils and Type VII collagen are Absent From Skin in Severe Recessive Dystrophic Epidermolysis Bullosa

1989 • 130 citations

A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.

1988 • 123 citations

Cardiovascular involvement in osteogenesis imperfecta.

1986 • 123 citations

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

1986 • 122 citations

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

1989 • 117 citations

Osteogenesis Imperfecta Nosology and Genetics

1988 • 117 citations

A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function.

1980 • 113 citations

Bilateral Spontaneous Carotid-Cavernous Fistulae in Ehlers-Danlos Syndrome

1967 • 112 citations

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

1983 • 107 citations

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

1983 • 105 citations

Arterial hemodynamic indexes in Marfan's syndrome.

1989 • 103 citations

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

1983 • 102 citations

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

1987 • 100 citations

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII

1989 • 99 citations

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV

1989 • 92 citations

Complications of Intramedullary Rods in Osteogenesis Imperfecta

1988 • 90 citations

Skin is a window on heritable disorders of connective tissue

1989 • 90 citations

Osteogenesis Imperfecta after the Menopause

1984 • 89 citations

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

1985 • 87 citations

Hydroxylysine-Deficient Skin Collagen in a Patient with a Form of the Ehlers-Danlos Syndrome

1974 • 86 citations

A New Form of Ehlers-Danlos Syndrome

1980 • 85 citations

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

1986 • 83 citations

The Ehlers-Danlos syndrome

1969 • 81 citations

A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

1989 • 79 citations

Parental age effects on the occurrence of new mutations for the Marfan syndrome

1972 • 79 citations

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

1987 • 79 citations

Hearing Loss in Patients with Osteogenesis ImperfectaA Clinical and Audiological Study of 201 Patients

1984 • 76 citations

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1986 • 75 citations

Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management.

1981 • 74 citations

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.

1975 • 74 citations

Clinical presentations of Ehlers Danlos syndrome type IV.

1988 • 73 citations

Basilar impression in osteogenesis imperfecta. A report of three cases in one family

1984 • 72 citations

Scoliosis associated with osteogenesis imperfecta

1982 • 72 citations

The spine in osteogenesis imperfecta.

1978 • 70 citations

Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide.

1988 • 70 citations

Surgical management of children and young adults with marfan syndrome and pectus excavatum

1988 • 70 citations

Osteogenesis imperfecta: comprehensive management.

1988 • 69 citations

Existence of malfunctioning proα2(I) collagen genes in a patient with a proα2(I)‐chain‐defective variant of Ehlers‐Danlos syndrome

1988 • 68 citations

Homozygous osteogenesis imperfecta unlinked to collagen I genes

1988 • 66 citations

Osteogenesis Imperfecta: Comprehensive Management

1988 • 66 citations

Ocular Ehlers-Danlos Syndrome With Normal Lysyl Hydroxylase Activity

1976 • 66 citations

Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response

1978 • 63 citations

Ehlers-Danlos Syndrome

1987 • 63 citations

Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features.

1984 • 62 citations

Nonoperative Treatment of Osteogenesis Imperfecta

1981 • 59 citations

Consequences of an Osteogenesis Imperfecta Diagnosis for Survival and Ambulation

1985 • 58 citations

Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly.

1988 • 57 citations

Prenatal ultrasonographic diagnosis of osteogenesis imperfecta

1988 • 56 citations

Findings and Long-term Surgical Results in the Hearing Loss of Osteogenesis Imperfecta

1982 • 56 citations

Dental findings in osteogenesis imperfecta: I. Occurrence and expression of type I dentinogenesis imperfecta.

1987 • 55 citations

OSTEOSARCOMA OCCURRING IN OSTEOGENESIS IMPERFECTA

1967 • 53 citations

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

1987 • 52 citations

Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.

1975 • 52 citations

Osteogenesis imperfecta Congenita

1928 • 51 citations

Marfan syndrome: Neuropsychological aspects

1988 • 50 citations

Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta.

1986 • 50 citations

Marfan syndrome: evaluation with MR imaging versus CT.

1987 • 48 citations

The Brittle Bone Syndrome: Osteogenesis Imperfecta

1983 • 47 citations

[9] Elastin: An overview

1987 • 46 citations

Osteogenesis imperfecta congenita

1982 • 44 citations

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

1987 • 44 citations

The Spine in Osteogenesis Imperfecta

1988 • 42 citations

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

1988 • 41 citations

Systemic Treatment of Osteogenesis Imperfecta

1981 • 41 citations

Pregnancy Management and Successful Outcome of Ehlers-Danlos Syndrome Type IV

1987 • 40 citations

Fetal marfan syndrome: Prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions

1981 • 40 citations

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

1986 • 39 citations

Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant

1979 • 38 citations

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

1987 • 38 citations

Operative Treatment of Spine Deformity in Osteogenesis Imperfecta

1979 • 37 citations

The Development of the Spinal Deformities in Osteogenesis Imperfecta

1982 • 37 citations

ROUND-TABLE DISCUSSIONS

1969 • 36 citations

Acetabular protrusion in the Marfan syndrome.

1987 • 32 citations

A defective cell surface collagen-binding protein in dermatosparactic sheep fibroblasts.

1988 • 31 citations

Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

1989 • 31 citations

Cardiovascular manifestations of heritable disorders of connective tissue.

1983 • 29 citations

Osteogenesis imperfecta clinical features, hearing loss and stapedectomy. Biochemical, osteodensitometric, corneometric and histological aspects in comparison with otosclerosis.

1985 • 29 citations

Acute multiple brachial neuropathy and Ehlers‐Danlos syndrome

1979 • 29 citations

Osteosarcoma occurring in osteogenesis imperfecta. A case report.

1979 • 29 citations

Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.

1984 • 29 citations

The nature of the ocular zonule.

1982 • 28 citations

Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation

1990 • 28 citations

Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes

1988 • 27 citations

Osteogenesis imperfecta: rehabilitation approach with infants and young children.

1984 • 27 citations

Internal Fixation of the Femur in Patients with Osteogenesis Imperfecta

1981 • 27 citations

Ehlers‐Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino‐terminal propeptide of type III procollagen

1989 • 27 citations

The Brittle Bone Syndrome Osteogenesis Imperfecta.

1984 • 25 citations

The Treatment of Osteogenesis Imperfecta

1984 • 25 citations

Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker

1986 • 24 citations

Stapedectomy in Osteogenesis imperfecta

1983 • 24 citations

Symposium on Heritable Disorders of Connective Tissue

1983 • 22 citations

Homozygosity for autosomal dominant Marfan syndrome.

1984 • 22 citations

Asymmetric Marfan syndrome

1988 • 22 citations

Increased aortic root stiffness associated with osteogenesis imperfecta

1987 • 21 citations

The mechanism of bacterial killing by normal and chronic granulomatous disease leukocytes.

1975 • 18 citations

Stapes Surgery in Patients with Osteogenesis Imperfecta

1984 • 18 citations

Probable Homozygotic Form of the Marfan Syndrome in a Newborn Child

1988 • 17 citations

9 Osteogenesis imperfecta

1988 • 17 citations

Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.

1985 • 16 citations

Osteogenesis imperfecta type I with unusual dental abnormalities

1988 • 16 citations

Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta^a

1988 • 15 citations

Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.

1987 • 14 citations

Imperfect Collagenesis in Osteogenesis Imperfecta The Consequences of Cysteine‐Glycine Substitutions upon Collagen Structure and Metabolism^a

1988 • 14 citations

Management of arterial complications in a case of the arterial type of ehlers-danlos syndrome

1970 • 11 citations

P<scp>etros</scp> T<scp>sipouras</scp>⁴

1986 • 11 citations

A Structurally Abnormal α2(I) Collagen Chain in a Further Patient with the Ehlers‐Danlos Syndrome Type VIIa

1985 • 11 citations

The Bentall procedure: a surgical option in Ehlers-Danlos syndrome.

1988 • 10 citations

Effects of Mutations that Change Primary Structure of Collagen on the Self-Assembly of the Protein into Fibrils

1989 • 10 citations

A disease with features of cutis laxa and Ehlers-Danlos syndrome

1988 • 9 citations

The Prevention of Recurrent Fractures of the Lower Extremities in Severe Osteogenesis Imperfecta Using Vacuum Pants

1988 • 8 citations

Osteogenesis Imperfecta in Southern Africa Diagnostic Categorisation and Biomolecular Findings^a

1988 • 8 citations

Molecular Basis of Inherited Disorders of Collagen Biosynthesis: Implications for Prenatal Diagnosis1

2015 • 8 citations

First International Symposium on the Marfan syndrome, Friday, July 8–Sunday, July 10, 1988, Baltimore, Maryland ABSTACTS

1989 • 7 citations

First international symposium on the Marfan syndrome

1989 • 7 citations

[Hepato-renal polycystosis, Marfan's syndrome and spina bifida occulta: a complex association. Description of a clinical case].

1988 • 6 citations

Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred

1984 • 4 citations

Mild osteogenesis imperfecta is not always associated with defects in type i collagen and it is not always inherited as a dominant trait

1988 • 4 citations

Erfahrungen mit der Frühbehandlung der Osteogenesis imperfecta (Ol)

1989 • 3 citations

APPLICATION TO A FAMILY WITH AN AUTOSOMAL DOMINANT FORM OF OSTEOGENESIS IMPERFECTA

1983 • 3 citations

Deleted Work

1955 • 0 citations