Pseudo-achondroplasie: étude d'un cas familial = Pseudoachondroplasia: study of a familial caseVANDEVELDE, M. F; BOEZ, E; CHAUVIERE, a et al.Pédiatrie (Marseille). 1988, Vol 43, Num 4, pp 319-323, issn 0031-4021Article

Gonadal mosaicism in pseudoachondroplasiaHALL, J. G; DORST, J. P; ROTTA, J et al.American journal of medical genetics. 1987, Vol 28, Num 1, pp 143-151, issn 0148-7299Article

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix proteinSUSIC, S; MCGRORY, J; AHIER, J et al.Clinical genetics. 1997, Vol 51, Num 4, pp 219-224, issn 0009-9163Article

The identification of exons from the MED/PSACH region of human chromosome 19QUAN-YI LI; LENNON, G. G; BROOK, J. D et al.Genomics (San Diego, Calif.). 1996, Vol 32, Num 2, pp 218-224, issn 0888-7543Article

Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosisHASHIMOTO, Yusuke; TOMIYAMA, Takami; YAMANO, Yoshiki et al.The American journal of pathology. 2003, Vol 163, Num 1, pp 101-110, issn 0002-9440, 10 p.Article

Linkage of typical pseudoachondroplasia to chromosome 19HECHT, J. T; FRANCOMANO, C. A; BRIGGS, M. D et al.Genomics (San Diego, Calif.). 1993, Vol 18, Num 3, pp 661-666, issn 0888-7543Article

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasiaDEERE, M; SANFORD, T; FRANCOMANO, C. A et al.American journal of medical genetics. 1999, Vol 85, Num 5, pp 486-490, issn 0148-7299Article

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasiaIKEGAWA, S; OHASHI, H; NISHIMURA, G et al.Human genetics. 1998, Vol 103, Num 6, pp 633-638, issn 0340-6717Article

Historical case of dwarfism : attempted diagnosisWIEDEMANN, H.-R.American journal of medical genetics. 1993, Vol 47, Num 5, pp 805-806, issn 0148-7299Article

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) geneDELOT, E; KING, L. M; BRIGGS, M. D et al.Human molecular genetics (Print). 1999, Vol 8, Num 1, pp 123-128, issn 0964-6906Article

Mosaicism in pseudoachondroplasiaFERGUSON, H. L; DEERE, M; EVANS, R et al.American journal of medical genetics. 1997, Vol 70, Num 3, pp 287-291, issn 0148-7299Article

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaHECHT, J. T; NELSON, L. D; LAWLER, J et al.Nature genetics. 1995, Vol 10, Num 3, pp 325-329, issn 1061-4036Article

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentrometric region of chromosome 19BRIGGS, M. D; RASMUSSEN, M; WEBER, J. L et al.Genomics (San Diego, Calif.). 1993, Vol 18, Num 3, pp 656-660, issn 0888-7543Article

Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasiaNAKAYAMA, Hiroaki; ENDO, Yuichi; AOTA, Shigeo et al.Oncology reports. 2003, Vol 10, Num 4, pp 871-873, issn 1021-335X, 3 p.Article

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrixRIMOIN, D. L; RASMUSSEN, I. M; GARBER, A. P et al.Human genetics. 1994, Vol 93, Num 3, pp 236-242, issn 0340-6717Article

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]IKEGAWA, S; OHASHI, H; HOSODA, F et al.American journal of medical genetics. 1998, Vol 77, Num 5, pp 356-359, issn 0148-7299Article

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasiaDEERE, M; SANFORD, T; FERGUSON, H. L et al.American journal of medical genetics. 1998, Vol 80, Num 5, pp 510-513, issn 0148-7299Article

Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank typeLANGER, L. O; SCHAEFER, G. B; WADSWORTH, D. T et al.American journal of medical genetics. 1993, Vol 47, Num 5, pp 772-781, issn 0148-7299Article

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneBRIGGS, M. D; HOFFMAN, S. M. G; CEKLENIAK, J. A et al.Nature genetics. 1995, Vol 10, Num 3, pp 330-336, issn 1061-4036Article

Double heterozygosity in bone growth disorders: Four new observations and reviewFLYNN, Maureen A; PAULI, Richard M.American journal of medical genetics. 2003, Vol 121A, Num 3, pp 193-208, issn 0148-7299, 16 p.Article

Dépistage échographique : petit, oui... mais pourquoi? = Ultrasonic screening: small, ...yes, but why?MORIAUX, Y; HOUAREAU, G; MOLAND, Y et al.Revue française de gynécologie et d'obstétrique. 1990, Vol 85, Num 4, pp 255-261, issn 0035-290XArticle

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenitaUNGER, Sheila; KORKKO, Jarmo; KRAKOW, Deborah et al.American journal of medical genetics. 2001, Vol 104, Num 2, pp 140-146, issn 0148-7299Article

Analysis of thechondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasiaFINKELSTEIN, J. E; DOEGE, K; YAMADA, Y et al.American journal of human genetics. 1991, Vol 48, Num 1, pp 97-102, issn 0002-9297, 6 p.Article