Published in Am J Pathol on September 01, 1979
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet (1989) 1.19
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. Am J Hum Genet (1988) 1.12
Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. Am J Hum Genet (1994) 1.10
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. J Clin Invest (1998) 1.09
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). J Clin Invest (2005) 1.07
Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathol (1984) 1.04
Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice. Proc Natl Acad Sci U S A (1993) 1.02
Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly. J Clin Invest (1988) 0.99
Molecular heterogeneity in chondrodysplasias. Am J Hum Genet (1989) 0.92
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. Proc Natl Acad Sci U S A (1992) 0.92
Ellis van Creveld syndrome--a report of two siblings. BMJ Case Rep (2011) 0.91
Human osteogenesis involves differentiation-dependent increases in the morphogenically active 3' alternative splicing variant of acetylcholinesterase. Mol Cell Biol (1999) 0.89
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. Am J Hum Genet (1992) 0.87
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. J Anat (1990) 0.83
Prenatal transplantation of mesenchymal stem cells to treat osteogenesis imperfecta. Front Pharmacol (2014) 0.80
Short stature--physiology and pathology. West J Med (1986) 0.77
Nonrandom association of a type II procollagen genotype with achondroplasia. Proc Natl Acad Sci U S A (1985) 0.76
Chondrodysplasia in the Norwegian Elkhound. Am J Pathol (1982) 0.76
A low-viscosity epoxy resin embedding medium for electron microscopy. J Ultrastruct Res (1969) 75.26
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. Bull Johns Hopkins Hosp (1964) 6.15
Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions. Histochemie (1965) 5.47
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. Bull Johns Hopkins Hosp (1965) 4.23
THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION. J Pediatr (1964) 4.12
Histochemical and ultrastructural demonstration of gamma-glutamyl transpeptidase activity. J Histochem Cytochem (1969) 3.91
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. Mayo Clin Proc (1965) 3.51
[Thanatophoric dwarfism]. Presse Med (1967) 2.25
[Asphyxiating thoracic dystrophy with familial characteristics]. Arch Fr Pediatr (1955) 2.24
Hypochondroplasia. Am J Dis Child (1971) 1.86
Congenital stippled epiphyses. Pediatrics (1951) 1.77
Science and art in preparing tissues embedded in plastic for light microscopy, with special reference to glycol methacrylate, glass knives and simple stains. Stain Technol (1976) 1.76
Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol (1962) 1.66
Pseudo-achondrogenesis with fractures. Clin Genet (1972) 1.66
Achondroplasia and thanatophoric dwarfism in the newborn. Clin Genet (1971) 1.65
Ultrastructure of benign peripheral nerve sheath tumors. Cancer (1966) 1.64
SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT. Radiology (1964) 1.58
Dyschondrosteosis. The most common cause of Madelung's deformity. J Pediatr (1966) 1.57
DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES. Am J Roentgenol Radium Ther Nucl Med (1965) 1.49
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd (1974) 1.48
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J Med Genet (1973) 1.48
A radiographic study of the human fetal spine. 2. The sequence of development of ossification centres in the vertebral column. J Anat (1977) 1.45
[Tricho-rhino-phalangeal syndrome]. Helv Paediatr Acta (1966) 1.45
[Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias]. Presse Med (1959) 1.45
Achondroplasia--a genetic and statistical survey. Ann Hum Genet (1970) 1.42
The chondrodystrophies. Adv Hum Genet (1975) 1.42
[Diastrophic nanism]. Presse Med (1960) 1.41
Chondrodysplasia punctata and maternal warfarin use during pregnancy. Am J Dis Child (1975) 1.38
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child (1977) 1.37
Chondrodysplasia punctata-23 cases of a mild and relatively common variety. J Pediatr (1976) 1.37
[Not Available]. Presse Med (1957) 1.30
Substituted naphthol AS phosphate derivatives for the localization of leukocyte alkaline phosphatase activity. Lab Invest (1962) 1.29
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? J Med Genet (1978) 1.29
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. Radiology (1969) 1.29
The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child (1968) 1.27
[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]. Z Kinderheilkd (1952) 1.27
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med (1970) 1.27
Congenital bowing of the long bones in two sisters. Lancet (1971) 1.27
Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis. J Pediatr (1963) 1.26
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. Lab Invest (1972) 1.26
Dysplasia epiphysialis multiplex in three sisters. J Bone Joint Surg Br (1952) 1.25
The Stickler syndrome. N Engl J Med (1972) 1.25
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. Z Kinderheilkd (1971) 1.22
Stickler syndrome in a pedigree of Pierre Robin syndrome. Am J Dis Child (1973) 1.22
Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology (1967) 1.21
[Metatrophic dwarfism]. Arch Kinderheilkd (1966) 1.21
[The campomelic syndrome]. Presse Med (1971) 1.21
The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions. J Neurol Sci (1974) 1.20
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. Helv Paediatr Acta (1969) 1.17
Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship. Arch Dis Child (1971) 1.17
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. J Pediatr (1969) 1.17
Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy. Australas Radiol (1972) 1.15
Fatal neonatal dwarfism. J Can Assoc Radiol (1972) 1.15
Heterogeneity in the campomelic syndromes. Long-and short-bone varieties. Radiology (1976) 1.15
Thymic aplasia with lymphopenia, plasma cells, and normal immunoglobulins. Relation to measles virus infection. JAMA (1967) 1.14
[International nomenclature of constitutional diseases of bones]. Ann Radiol (Paris) (1970) 1.14
METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME? Lancet (1964) 1.14
Reversal of protein blocking of basophilia in salt solutions: implications in the localization of polyanions using alcian blue. J Histochem Cytochem (1968) 1.13
The Dyggve-Melchior-Clausen syndrome. Radiology (1975) 1.13
Heterogeneity of Chondrodysplasia punctata. Humangenetik (1971) 1.12
Achondroplasia. Am J Roentgenol Radium Ther Nucl Med (1967) 1.12
Structure and function of the growth plate. Clin Orthop Relat Res (1978) 1.11
Asphyxiating thoracic dystrophy of the newborn. Am J Roentgenol Radium Ther Nucl Med (1966) 1.11
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. Am J Hum Genet (1978) 1.10
Chondrodysplasis punctata: is maternal warfarin therapy a factor? Am J Dis Child (1975) 1.10
Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol Radium Ther Nucl Med (1972) 1.10
Spondyloepiphyseal dysplasia congenita. Radiology (1970) 1.09
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr (1976) 1.08
A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES. Acta Genet Stat Med (1964) 1.08
The ultrastructure of the epiphyseal plate. II. The hypertrophic chondrocyte. Calcif Tissue Res (1972) 1.07
Endochondral ossification in achondroplastic dwarfism. N Engl J Med (1970) 1.07
Diastrophic dwarfism. Medicine (Baltimore) (1972) 1.07
Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease. Pediatr Res (1975) 1.07
Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle. Pediatrics (1969) 1.06
Pseudoachondroplasia. Birth Defects Orig Artic Ser (1975) 1.04
The Dyggve-Melchior-Clausen syndrome. Birth Defects Orig Artic Ser (1971) 1.03
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. Z Kinderheilkd (1974) 1.02
Pseudoachondroplastic dwarfism. A rough-surfaced endoplasmic reticulum storage disorder. J Bone Joint Surg Am (1973) 1.02
Skeletal growth in achondroplasia. J Bone Joint Surg Am (1970) 1.02
Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr (1979) 1.00
The Kniest syndrome. Am J Roentgenol Radium Ther Nucl Med (1975) 1.00
Familial camptomelic dwarfism. J Pediatr (1973) 0.99
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils. Hum Genet (1978) 0.99
The phenotypic variability of diastrophic dysplasia. J Pediatr (1978) 0.99
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one. J Bone Joint Surg Am (1967) 0.98
Multiple epiphysial dysplasia: a report of four cases. Br J Surg (1952) 0.98
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID. Arch Dis Child (1964) 0.98
[Acromesomelic dwarfism]. Presse Med (1971) 0.97
MUCOPOLYSACCHARIDOSIS: PAPER ELECTROPHORETIC AND INFRA-RED ANALYSIS OF THE URINE IN GARGOYLISM AND MORQUIO-ULLRICH'S DISEASE. Arch Dis Child (1963) 0.97
Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome). Am J Hum Genet (1954) 0.97
Familial bone disease resembling rickets (hereditary metaphysial dysostosis). Pediatrics (1962) 0.97
The Kniest syndrome. Birth Defects Orig Artic Ser (1974) 0.97
[ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME]. Ann Radiol (Paris) (1964) 0.96
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases. Pediatrics (1958) 0.96
Spondyloepiphysial dysplasia tarda. Four cases in childhood and adolescence, and some considerations regarding platyspondyly. Radiology (1965) 0.96
Chondro-osseous pathology in the chondrodystrophies. Clin Orthop Relat Res (1976) 0.96
The so-calle "Cloverleaf Skull Syndrome". A report of three cases with a discussion of its relationships with thanatophoric dwarfism and the craniostenoses. Pediatr Radiol (1974) 0.95
Hereditary dysplasia epiphysealis multiplex. Clin Radiol (1967) 0.95
Histologic studies in the chondrodystrophies. Birth Defects Orig Artic Ser (1974) 0.95
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA. Can Med Assoc J (1965) 0.95
Genetic heterogeneity in osteogenesis imperfecta. J Med Genet (1979) 12.51
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr (1973) 3.44
The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity. Am J Hum Genet (1983) 3.23
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J Pediatr (1967) 2.92
Pachydermoperiostosis: an update. Clin Genet (2005) 2.65
Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease. Ann Intern Med (1979) 2.61
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet (1995) 2.55
Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet (1995) 2.43
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet (1995) 2.30
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet (1995) 2.29
The G deletion syndromes. J Pediatr (1970) 2.09
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature (1997) 2.03
Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med (1976) 1.97
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet (1996) 1.81
Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. Am J Hum Genet (1973) 1.77
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet (1984) 1.72
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A (2014) 1.70
The lacrimo-auriculo-dento-digital syndrome. J Pediatr (1973) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci U S A (1990) 1.66
Genetic aspects of clinical endocrinology. Recent Prog Horm Res (1968) 1.64
Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder. N Engl J Med (1979) 1.61
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet (1993) 1.60
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. J Pediatr (1990) 1.58
Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function. J Cell Biol (1997) 1.55
Acute septic arthritis complicating chronic rheumatoid arthritis. JAMA (1966) 1.54
Non-Majewski short rib-polydactyly syndrome. Am J Med Genet (1980) 1.52
Growth-hormone deficiency in man: an isolated, recessively inherited defect. Science (1966) 1.51
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet (1999) 1.47
HLA genotypic study of insulin-dependent diabetes the excess of DR3/DR4 heterozygotes allows rejection of the recessive hypothesis. Diabetes (1983) 1.45
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis (2007) 1.44
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med (1968) 1.43
Peptic ulcer disease--a heterogeneous group of disorders? Gastroenterology (1977) 1.42
The chondrodystrophies. Adv Hum Genet (1975) 1.42
Genetic homogeneity of cartilage-hair hypoplasia. Hum Genet (1995) 1.39
Fetal varicella syndrome. J Pediatr (1987) 1.39
Heterogeneity in diabetes mellitus--update, 1978. Evidence for further genetic heterogeneity within juvenile-onset insulin-dependent diabetes mellitus. Diabetes (1978) 1.38
Classification of osteogenesis imperfect. Lancet (1978) 1.37
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. Am J Med (1968) 1.35
Familial motor neuron disease. Evidence for at least three different types. Neurology (1976) 1.34
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. Birth Defects Orig Artic Ser (1977) 1.33
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet (1998) 1.33
Mortality in achondroplasia. Am J Hum Genet (1987) 1.33
Standard growth curves for achondroplasia. J Pediatr (1978) 1.32
Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet (1975) 1.31
Close genetic linkage between diabetes mellitus and kidd blood group. Lancet (1981) 1.30
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. Matrix Biol (2001) 1.26
Normal long bone growth and development in type X collagen-null mice. Nat Genet (1994) 1.26
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser (1979) 1.25
Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet (1995) 1.24
Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet (1996) 1.23
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr (1988) 1.23
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest (1999) 1.23
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet (1998) 1.21
Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet (2001) 1.20
Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet (1978) 1.20
Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J Med Genet (1989) 1.20
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet (1989) 1.19
The genetics of the glucose intolerance disorders. Am J Med (1981) 1.18
A metabolic and hormonal basis for classifying ateliotic dwarfs. Lancet (1969) 1.17
Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet (1971) 1.17
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet (1986) 1.17
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet (1995) 1.16
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. J Med Genet (2003) 1.16
LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet (2000) 1.15
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet (2005) 1.15
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet (1995) 1.15
Growth of the foramen magnum in achondroplasia. Am J Med Genet (1989) 1.15
A unique chondrodysplasia secondary to a defect in chondroosseous transformation. Birth Defects Orig Artic Ser (1977) 1.12
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.12
Peripheral subresponsiveness to human growth hormone in the African pygmies. N Engl J Med (1969) 1.11
Plasma growth hormone after arginine infusion. Clinical experiences. N Engl J Med (1967) 1.11
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet (1993) 1.11
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. Matrix Biol (1998) 1.10
A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet (1988) 1.10
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. J Pediatr (1986) 1.10
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child (1982) 1.10
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. J Clin Invest (1998) 1.09
Fibrochondrogenesis: radiologic and histologic studies. Am J Med Genet (1984) 1.08
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr (1976) 1.08
Genetics of diabetes mellitus. Diabetes (1967) 1.08
Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol (1985) 1.08
Genetics, diabetes mellitus heterogeneity, and coronary heart disease. Prog Clin Biol Res (1984) 1.07
Endochondral ossification in achondroplastic dwarfism. N Engl J Med (1970) 1.07
Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects Orig Artic Ser (1974) 1.06
Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice. J Bone Miner Res (1999) 1.06
Hereditary forms of growth hormone deficiency and resistance. Birth Defects Orig Artic Ser (1976) 1.06
Multiple cell origin of hereditary neurofibromas. N Engl J Med (1971) 1.06
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Am J Ophthalmol (1984) 1.05