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kw.\*:("Chondrodysplasia")

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Chondrodysplasie ponctuée de type Conradi-Hünermann et alcoolisme fœtal = Conradi Hünermann type chondrodysplasia punctata and fetal alcoholismSARDA, P; GUILLAUMONT, S; JALAGUIER, J et al.Journal de génétique humaine. 1989, Vol 37, Num 4-5, pp 395-399, issn 0021-7743, 5 p.Article

Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patientsPOULOS, A; SHEFFIELD, L; SHARP, P et al.The Journal of pediatrics. 1988, Vol 113, Num 4, pp 685-690, issn 0022-3476Article

Chondrodysplasia punctata. Report of two casesANDERSEN, R. E. JR; JUTESEN, P.Skeletal radiology. 1987, Vol 16, Num 3, pp 223-226, issn 0364-2348Article

Pyle disease (metaphyseal dysplasia)BEIGHTON, P.Journal of medical genetics. 1987, Vol 24, Num 6, pp 321-324, issn 0022-2593Article

Chrondrodysplasia punctata (conradi disease)O'BRIEN, J. T.International journal of dermatology. 1990, Vol 29, Num 7, pp 472-476, issn 0011-9059, 5 p.Article

La maladie des épiphyses ponctuées (à propos de 2 cas personnels) = The punctuate epiphysis disease (two cases)GARCIA, P; PALIX, C; COIGNET, J et al.Le Pédiatre. 1985, Vol 21, Num 93, pp 287-295, issn 0397-9180Article

Dominant chondrodysplasia punctata with neurologic symptomsCURLESS, R. G.Neurology. 1983, Vol 33, Num 8, pp 1095-1097, issn 0028-3878Article

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsJAKKULA, Eveliina; MÄKITIE, Outi; CZARNY-RATACJZAK, Malwina et al.European journal of human genetics. 2005, Vol 13, Num 3, pp 292-301, issn 1018-4813, 10 p.Article

Grebe-type chondrodysplasia : a novel missense mutation in a conserved cysteine of the growth differentiation factor 5FAIYAZ-UL-HAQUE, Muhammad; FAQEIH, Eissa A; AL-ZAIDAN, Hamad et al.Journal of bone and mineral metabolism (English ed.). 2008, Vol 26, Num 6, pp 648-652, issn 0914-8779, 5 p.Article

METAPHYSEAL CHONDRODYSPLASIA.SPRANGER JW.1977; POSTGRAD. MED. J.; G.B.; DA. 1977; VOL. 53; NO 622; PP. 480-487; BIBL. 1 P.; (BONE DYSPLASIAS. SYMP. PROC.; BRISTOL; 1976)Conference Paper

Visualization of cartilage formation : Insight into cellular properties of skeletal progenitors and chondrodysplasia syndromesBARNA, Maria; NISWANDER, Lee.Developmental cell. 2007, Vol 12, Num 6, pp 931-941, issn 1534-5807, 11 p.Article

Abnormality of cartilage collagen in a patient with unclassified chondrodystrophySUSSMAN, M. D; KELLY, T; ROSENBAUM, K. N et al.Journal of orthopaedic research. 1984, Vol 22, Num 4, pp 339-345, issn 0736-0266Article

Genochondromatosis type II : Report of a new patient and further delineation of the phenotypeISIDOR, Bertrand; GUILLARD, Sophie; HAMEL, Antoine et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 16, pp 1919-1921, issn 1552-4825, 3 p.Article

Prenatal diagnosis of boomerang dysplasiaWESSELS, Marja W; DEN HOLLANDER, Nicolette S; DE KRIJGER, Ronald R et al.American journal of medical genetics. 2003, Vol 122A, Num 2, pp 148-154, issn 0148-7299, 7 p.Article

Sib Pair With Previously Unreported Skeletal DysplasiaMEGARBANE, André; DAGHER, Rawane; MELKI, Imad et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 22, pp 2916-2919, issn 1552-4825, 4 p.Article

Chondrodysplasia punctata in an adult recognized as vitamin K antagonist embryopathyHOSENFELD, D; WIEDEMANN, H.-R.Clinical genetics. 1989, Vol 35, Num 5, pp 376-381, issn 0009-9163, 6 p.Article

Desbuquois dysplasia, a reevaluation with abnormal and normal hands: Radiographic manifestationsFAIVRE, Laurence; CORMIER-DAIRE, Valérie; ELIOTT, Alison M et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 48-53, issn 0148-7299, 6 p.Article

Mutation of CANT1 Causes Desbuquois DysplasiaFADEN, Maha; AL-ZAHRANI, Fatema; ARAFAH, Dia et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1157-1160, issn 1552-4825, 4 p.Article

Brief clinical report: Sedaghatian congenital lethal metaphyseal chondrodysplasia ― observations in a second Iranian family and histopathological studiesOPITZ, J. M; SPRANGER, J. W; STOSS, H. R et al.American journal of medical genetics. 1987, Vol 26, Num 3, pp 583-590, issn 0148-7299Article

Metaphyseal dyschondroplasia with cone-shaped epiphysesHOEFFEL, J. C; DIDIER, F; CHANTEREAU, D et al.British journal of radiology. 1987, Vol 60, Num 715, pp 707-710, issn 0007-1285Article

A NEW TYPE OF CHONDRODYSTROPHIC MUTANT IN THE MOUSE.FERGUSON JM; WALLACE ME; JOHNSON DR et al.1978; J. MED. GENET.; G.B.; DA. 1978; VOL. 15; NO 2; PP. 128-131; BIBL. 8 REF.Article

INITIAL IDENTIFICATION OF CHONDRODYSTROPHIC TURKEY EMBRYOSSTOUT JT; BUSS EG.1979; J. HERED.; USA; DA. 1979; VOL. 70; NO 2; PP. 139-141; BIBL. 3 REF.Article

Murk Jansen's metaphyseal chondrodysplasia with long-term followupSILVERTHORN, K. G; HOUSTON, C. S; DUNCAN, B. P et al.Pediatric radiology. 1987, Vol 17, Num 2, pp 119-123, issn 0301-0449Article

HEREDITARY CHONDRODYSTROPHY IN THE TURKEY.NESTOR KE.1978; POULTRY SCI.; USA; DA. 1978; VOL. 57; NO 3; PP. 577-580; BIBL. 6 REF.Article

Rhizomelic chondrodysplasia punctata : deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzymeHEIKOOP, J. C; VAN ROERMUND, C. W. T; JUST, W. W et al.The Journal of clinical investigation. 1990, Vol 86, Num 1, pp 126-130, issn 0021-9738Article

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