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Results: 1-17 |
Results: 17
Microlissencephaly with cardiac, spinal and urogenital defects
Authors: Gardner, RJM Savarirayan, R Dunne, KB McLellan, JA Coleman, LT Suthers, GK
Citation: Rjm. Gardner et al., Microlissencephaly with cardiac, spinal and urogenital defects, CLIN DYSMOR, 10(3), 2001, pp. 203-208
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias
Authors: Cormier-Daire, V Savarirayan, R Unger, S Rimoin, DL Lachman, RS
Citation: V. Cormier-daire et al., "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias, PEDIAT RAD, 31(1), 2001, pp. 38-42
Intermediate form of Ablepharon-Macrostomia syndrome with CNS abnormalities
Authors: Amor, DJ Savarirayan, R
Citation: Dj. Amor et R. Savarirayan, Intermediate form of Ablepharon-Macrostomia syndrome with CNS abnormalities, AM J MED G, 103(3), 2001, pp. 252-254
"Baby rattle" pelvis dysplasia
Authors: Cormier-Daire, V Savarirayan, R Lachman, RS Neidich, JA Grace, K Rimoin, DL Wilcox, WR
Citation: V. Cormier-daire et al., "Baby rattle" pelvis dysplasia, AM J MED G, 100(1), 2001, pp. 37-42
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Tiller, GE Le Merrer, M Heuertz, S Tranebjaerg, L Chitayat, D Robertson, S Glass, IA Savarirayan, R Cole, WG Rimoin, DL Kousseff, BG Ohashi, H Zabel, B Munnich, A Gecz, J Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type
Authors: Savarirayan, R Cormier-Daire, V Lachman, RS Rimoin, DL
Citation: R. Savarirayan et al., Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type, PEDIAT RAD, 30(7), 2000, pp. 460-463
Autosomal dominant inheritance of scapuloiliac dysostosis
Authors: Amor, DJ Savarirayan, R Bankier, A Jensen, F Hauser, SP
Citation: Dj. Amor et al., Autosomal dominant inheritance of scapuloiliac dysostosis, AM J MED G, 95(5), 2000, pp. 507-509
Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology
Authors: Savarirayan, R Cormier-Daire, V Unger, S Lachman, RS Roughley, PJ Wagner, SF Rimoin, DL Wilcox, WR
Citation: R. Savarirayan et al., Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology, AM J MED G, 95(3), 2000, pp. 193-200
New mesomelic dysplasia with absent fibulae and triangular tibiae
Authors: Savarirayan, R Cormier-Daire, V Curry, CJ Nashelsky, MB Rappaport, V Rimoin, DL Lachman, RS
Citation: R. Savarirayan et al., New mesomelic dysplasia with absent fibulae and triangular tibiae, AM J MED G, 94(1), 2000, pp. 59-63
New case of Cole-Carpenter syndrome
Authors: Amor, DJ Savarirayan, R Schneider, AS Bankier, A
Citation: Dj. Amor et al., New case of Cole-Carpenter syndrome, AM J MED G, 92(4), 2000, pp. 273-277
Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability
Authors: Freddi, S Savarirayan, R Bateman, JF
Citation: S. Freddi et al., Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability, AM J MED G, 90(5), 2000, pp. 398-406
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy
Authors: Savarirayan, R Gardner, RJM Sinclair, RD McDowell, M Cleaver, JE
Citation: R. Savarirayan et al., Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy, J MED GENET, 37(4), 2000, pp. 312-314
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia
Authors: Robertson, SP Shears, DJ Oei, P Winter, RM Scambler, PJ Aftimos, S Savarirayan, R
Citation: Sp. Robertson et al., Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia, J MED GENET, 37(12), 2000, pp. 959-964
Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)
Authors: Savarirayan, R
Citation: R. Savarirayan, Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX), PEDIAT RAD, 29(5), 1999, pp. 322-322
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliversyndrome
Authors: Savarirayan, R Thompson, EM Abbott, KJ Moore, MH
Citation: R. Savarirayan et al., Cerebral cortical dysplasia and digital constriction rings in Adams-Oliversyndrome, AM J MED G, 86(1), 1999, pp. 15-19
An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement
Authors: Robertson, SP Dickens, R Savarirayan, R Rogers, JG
Citation: Sp. Robertson et al., An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement, AM J MED G, 83(1), 1999, pp. 17-22
Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers
Authors: Savarirayan, R Bankier, A
Citation: R. Savarirayan et A. Bankier, Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers, J MED GENET, 36(7), 1999, pp. 574-576
Risultati: 1-17 |