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American Journal of Human Genetics|January 11, 1991
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasiaJ E Finkelstein, K Doege, Y Yamada, et al.
Pediatric Nephrology (Berlin, Germany)|April 1, 1999
Hypercalciuria and urolithiasis in a case of Costello syndromeF K Assadi, C I Scott, C P McKay, et al.
Neurosurgery|April 1, 1992
Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic formsG A Mandell, H T Harcke, C I Scott, et al.
Skeletal Radiology|January 1, 1989
Identification of avascular necrosis in the dysplastic proximal femoral epiphysisG A Mandell, W G MacKenzie, C I Scott, et al.
American Journal of Human Genetics|November 1, 1994
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palateH Feng, R Sassani, S P Bartlett, et al.
American Journal of Human Genetics|February 1, 1995
Achondroplasia is defined by recurrent G380R mutations of FGFR3G A Bellus, T W Hefferon, R I Ortiz de Luna, et al.
Genomics|June 15, 1996
Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPOA J Griffith, D L Burgess, D C Kohrman, et al.
American Journal of Human Genetics|October 1, 1992
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasiaW A Sweetman, B Rash, B Sykes, et al.
American Journal of Medical Genetics. Part A|August 14, 2008
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the USD K Waller, A Correa, Tuan M Vo, et al.
American Journal of Diseases of Children (1960)|May 1, 1980
CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemiaJ W Stoerner, I J Butler, F H Morriss, et al.
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