Atelosteogenesis.

A case of atelosteogenesis. J Med Genet (1990) 0.80

Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med (2014) 0.79

Atelosteogenesis type 2. J Med Genet (1998) 0.75

Occipital projections in the skeletal dysplasias. Pediatr Radiol (2004) 0.75

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99

Articular mobility in an African population. Ann Rheum Dis (1973) 7.01

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet (2001) 4.97

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04

Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br (1969) 3.30

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet (1985) 2.59

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J (1985) 2.52

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47

Design and cohort description of the InterAct Project: an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study. Diabetologia (2011) 2.43

Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature (1984) 2.28

[Thanatophoric dwarfism]. Presse Med (1967) 2.25

Constitutional chromosomal breakage. Hum Genet (1976) 2.24

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet (1990) 2.11

X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet (1982) 2.09

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06

Radial ray defects and associated anomalies. Clin Genet (1989) 2.06

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc Natl Acad Sci U S A (1989) 2.06

Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04

Rheumatoid arthritis in a rural South African Negro population. Ann Rheum Dis (1975) 2.03

Help! Unusual X-ray appearances of a congenital bone disease of unknown aetiology. Pediatr Radiol (2001) 2.01

A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet (2000) 1.98

Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr (1983) 1.98

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell (1995) 1.95

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet (1992) 1.94

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet (2001) 1.81

A dietary pattern protective against type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)--Potsdam Study cohort. Diabetologia (2005) 1.79

Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet (2002) 1.79

Osteoglophonic dwarfism. Pediatr Radiol (1980) 1.76

Surgical aspects of the Ehlers-Danlos syndrome. A survey of 100 cases. Br J Surg (1969) 1.72

CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70

The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. Ann Intern Med (1976) 1.63

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet (1998) 1.62

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60

Spondyloepiphyseal dysplasia. Birth Defects Orig Artic Ser (1974) 1.60

Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients. Ann Rheum Dis (1969) 1.59

The syndromic status of sclerosteosis and van Buchem disease. Clin Genet (1984) 1.58

The natural history of sclerosteosis. Clin Genet (2003) 1.58

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet (2000) 1.58

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis. Hum Genet (1984) 1.58

Pathogenic mechanisms in osteochondrodysplasias. J Bone Joint Surg Am (1984) 1.58

Rheumatic disorders in the South African Negro. Part II. Osteo-arthrosis. S Afr Med J (1975) 1.57

Structural anomalies of the X chromosome and inactivation center. Hum Genet (1981) 1.57

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet (1994) 1.56

Parental consanguinity in two sibs with omodysplasia. Am J Med Genet (1994) 1.56

A review of the osteopetroses. Postgrad Med J (1977) 1.53

Vestibular dysfunction in hereditary ataxia. Brain (1975) 1.53

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet (1999) 1.53

Sclerosteosis - an autosomal recessive disorder. Clin Genet (1977) 1.50

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet (1997) 1.49

"New" dwarfing syndromes. Birth Defects Orig Artic Ser (1977) 1.49

The dominant and recessive forms of cutis laxa. J Med Genet (1972) 1.48

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr (2000) 1.48

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd (1974) 1.48

[5 cases of microgeodic disease of phalanges of unknown etiology in infants]. Ann Radiol (Paris) (1970) 1.47

Duplicate publication and related problems. Pediatrics (1990) 1.46

Heredity of idiopathic haemochromatosis: a study of 106 families. Clin Genet (1977) 1.44

Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet (1987) 1.43

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43

Osteogenesis imperfecta: a clinical study of the first ten years of life. Calcif Tissue Int (1992) 1.43

Blood-pressure and its correlates in urban and tribal Africa. Lancet (1980) 1.40

Mental retardation syndrome with renal concentration deficiency and intracerebral calcification. Eur J Pediatr (1990) 1.40

Congenital hypertrichosis lanuginosa. Arch Dermatol (1970) 1.39

Lethal complications of the Ehlers-Danlos syndrome. Br Med J (1968) 1.39

Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta? J Med Genet (1981) 1.38

[Lipomucopolysaccharidosis, A new storage disease]. Z Kinderheilkd (1968) 1.38

Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38

Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet (1982) 1.37

Localization of the human NCAM gene to band q23 of chromosome 11: the third gene coding for a cell interaction molecule mapped to the distal portion of the long arm of chromosome 11. J Cell Biol (1986) 1.37

The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice. Nature (1986) 1.36

Physical properties of the skin in the Ehlers-Danlos syndrome. Ann Rheum Dis (1969) 1.36

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases. Hum Genet (1983) 1.36

Hypochondroplasia: clinical and radiological aspects in 39 cases. Radiology (1979) 1.34

Rheumatoid arthritis in a tribal Xhosa population in the Transkei, Southern Africa. Ann Rheum Dis (1977) 1.34

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet (2001) 1.34

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet (1993) 1.31

Crouzonodermoskeletal syndrome. J Clin Pediatr Dent (2004) 1.30

Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+). Humangenetik (1973) 1.30

Osteoarthrosis in a rural South African Negro population. Ann Rheum Dis (1976) 1.29

Sclerosteosis in South Africa. S Afr Med J (1979) 1.29

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet (1999) 1.29

Acromicric dysplasia. Am J Med Genet (1986) 1.28

The lethal osteochondrodysplasias. Adv Hum Genet (1990) 1.28

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. Hum Genet (1990) 1.28

Assignment of the human hap retinoic acid receptor RAR beta gene to the p24 band of chromosome 3. Hum Genet (1988) 1.28

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. Clin Genet (1985) 1.27

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet (1995) 1.27

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals. Am J Med Genet (1987) 1.27

Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects. Hum Genet (1976) 1.26

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am J Hum Genet (1999) 1.26

[Metachondromatosis]. Z Kinderheilkd (1971) 1.26

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik (1974) 1.26

Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. Nucleic Acids Res (1987) 1.26

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet (1994) 1.24

A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24

Prodromal trigeminal sensory neuropathy in progressive systemic sclerosis. Ann Rheum Dis (1968) 1.23

Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach. Hum Genet (1981) 1.23