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kw.\*:("Dysplasie spondyloépiphysaire pseudoachondroplasique")

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PSEUDOACHONDROPLASTIC DWARFISM. A ROUGH-SURFACED ENDOPLASTIC RETICULUM STORAGE DISORDER = NANISME PSEUDO-ACHONDROPLASIQUE. UNE THESAUROSE DU RETICULUM ENDOPLASMIQUE A SURFACE RUGUEUSECOOPER RR; PONSETI IV; MAYNARD JA et al.1973; J. BONE JOINT SURG., AMER. ED.; U.S.A.; DA. 1973; VOL. 55; NO 3; PP. 475-484; BIBL. 22 REF.Serial Issue

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

III. PSEUDOACHONDROPLASTIC DYSPLASIA = III. LA DYSPLASIE PSEUDO-ACHONDROPLASIQUERUPPRECHT E; PURATH W.1973; PROGR. PEDIATR. RADIOL.; SWITZ.; DA. 1973; VOL. 4; PP. 566-577; BIBL. 8 REF.Serial Issue

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

Pseudoacondroplasia tipo II, presentacion de una familia = Pseudoachondroplasie type II, présentation d'une famille = Pseudoachondroplastic dysplasie, type II. Report of a familyGRETHER, P; VIDALES, C; CARNEVALE, A et al.Revista de investigacion clinica. 1983, Vol 35, Num 3, pp 241-246, issn 0034-8376Article

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

Pseudoachondroplasia: biochemical and histochemical studies of cartilagePEDRINI-MILLE, A; MAYNARD, J. A; PEDRINI, V. A et al.Journal of bone and joint surgery. American volume. 1984, Vol 66, Num 9, pp 1408-1414, issn 0021-9355Article

METATROPIC DWARFISM, THE KNIEST SYNDROME AND THE PSEUDOACHONDROPLASTIC DYSPLASIASRIMOIN DL; SIGGERS DC; LACHMAN RS et al.1976; CLIN. ORTHOP. RELAT. RES.; U.S.A.; DA. 1976; VOL. 114; NO 1; PP. 70-82; BIBL. 1 P. 1/2Article

GEL ELECTROPHORETIC STUDIES ON PROTEOGLYCANS AND COLLAGEN OF ABNORMAL HUMAN GROWTH CARTILAGE: PROTEOGLYCAN ABNORMALITIES IN PSEUDOACHONDROPLASIA AND IN KNIEST'S DISEASE. = ETUDE PAR ELECTROPHORESE SUR GEL DES PROTEOGLYCANS ET DU COLLAGENE DU CARTILAGE DE CROISSANCE HUMAIN ANORMAL: LES ANOMALIES DES PROTEOGLYCANS DANS LA PSEUDOACHONDROPLASIE ET DANS LA MALADIE DE KNIESTSTANESCU V; MAROTEAUX P.1975; PEDIATR. RES.; U.S.A.; DA. 1975; VOL. 9; NO 10; PP. 779-782; BIBL. 20 REF.Article

ORTHOPEDIC COMPLICATIONS OF DWARFISM = COMPLICATIONS ORTHOPEDIQUES DU NANISMEKOPITS SE.1976; CLIN. ORTHOP. RELAT. RES.; U.S.A.; DA. 1976; VOL. 114; NO 1; PP. 153-179; BIBL. 24 REF.Article

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

Transepiphyseal plate osteotomy for severe tibia vara in children: follow-up study of four casesSASAKI, T; YAGI, T; MONJI, J et al.Journal of pediatric orthopedics. 1986, Vol 6, Num 1, pp 61-65, issn 0271-6798Article

Pseudo-achondroplastic variant of multiple epiphyseal dysplasia with cataract and vitiligoSHARMA, P; ANGRA, S. K; KHURANA, A et al.Annals of ophthalmology (Birmingham). 1987, Vol 19, Num 2, pp 56-59, issn 0003-4886Article

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

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

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

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 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

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