Published in J Pediatr on October 01, 1970
Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. Am J Hum Genet (1973) 1.77
Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16. J Med Genet (1978) 1.61
Chromosome survey of total population of mentally subnormal in North-East of Scotland. J Med Genet (1976) 1.32
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood (2008) 1.19
Four new cases of ring 21 and 22 including familial transmission of ring 21. J Med Genet (1977) 1.19
Molecular mechanism in the formation of a human ring chromosome 21. Proc Natl Acad Sci U S A (1989) 1.19
Frequency of deletion of short arm satellites in acrocentric chromosomes. J Med Genet (1974) 1.13
A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype. J Med Genet (1972) 1.10
Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family. J Med Genet (1972) 1.00
Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I. J Med Genet (1974) 0.95
"Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet (1994) 0.92
Long-arm deletion of chromosome 22, with protein-losing enteropathy. Proc R Soc Med (1972) 0.88
Partial deletion 21: case report with biochemical studies and review. J Med Genet (1987) 0.85
Monosomy G: case report and review of the literature. J Med Genet (1971) 0.84
Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit? J Med Genet (1983) 0.83
A case of ring chromosome. J Med Genet (1976) 0.75
Familial Ebstein's anomaly. J Med Genet (1976) 0.75
Hypogammaglobulinaemia in a patient with ring chromosome 21. Arch Dis Child (1997) 0.75
46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency. J Med Genet (1976) 0.75
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
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06
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
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
Bacteriophage-induced inhibition of host functions. I. Degradation of Escherichia coli deoxyribonucleic acid after T4 infection. J Virol (1968) 1.56
Acute septic arthritis complicating chronic rheumatoid arthritis. JAMA (1966) 1.54
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
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
Resolution of intracardiac masses. J Thorac Cardiovasc Surg (1989) 1.38
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
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
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
Morphologic studies in the skeletal dysplasias. Am J Pathol (1979) 1.29
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
Surveillance of paralytic poliomyelitis in the United States. 1966 and 1967 cases, and 1965-1967 cases associated with oral poliovirus vaccine. JAMA (1969) 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
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet (1986) 1.17
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. J Med Genet (2003) 1.16
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
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet (2005) 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
Plasma growth hormone after arginine infusion. Clinical experiences. N Engl J Med (1967) 1.11
Peripheral subresponsiveness to human growth hormone in the African pygmies. N Engl J Med (1969) 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
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. J Pediatr (1986) 1.10
A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet (1988) 1.10
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child (1982) 1.10
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
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
Isolated human growth hormone deficiency. 3. Insulin secretion in sexual ateliotic dwarfism. Metabolism (1968) 1.05
Manpower needs in human genetics. Clin Res (1975) 1.05
Thanatophoric dwarfism. Am J Dis Child (1970) 1.04
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. Pediatr Radiol (2001) 1.04
The Winchester syndrome: a nonlysosomal connective tissue disease. J Pediatr (1974) 1.03
Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol (1993) 1.03
Metabolic studies in the African pygmy. Trans Assoc Am Physicians (1968) 1.03
The Dyggve-Melchior-Clausen syndrome. Birth Defects Orig Artic Ser (1971) 1.03
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. Am J Med Genet (1990) 1.03
Spondylometepiphyseal dysplasia, Strudwick type. Am J Med Genet (1982) 1.03
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol (1991) 1.03
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. Am J Med Genet (1986) 1.03
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Genomics (1993) 1.03
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Ann N Y Acad Sci (1996) 1.02
HLA-B5 associated with duodenal ulcer. Gastroenterology (1977) 1.01
Familial lymphedema praecox: Meige's disease. Plast Reconstr Surg (1981) 1.01
The facial-digital-genital (Aarskog) syndrome. Am J Dis Child (1973) 1.01
The clinical spectrum of lumbar spine disease in achondroplasia. Spine (Phila Pa 1976) (1982) 1.01
Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr (1979) 1.00
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am J Med Genet (2001) 1.00
The Kniest syndrome. Am J Roentgenol Radium Ther Nucl Med (1975) 1.00
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet (1990) 0.99
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia. Am J Med Genet (1982) 0.99
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am J Hum Genet (1995) 0.99