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Results: 1-25 | 26-50 | 51-60
Results: 1-25/60
A NEW OSTEOLYSIS SYNDROME
Authors: HENDERSON LB KRAKOW D RIMOIN DL
Citation: Lb. Henderson et al., A NEW OSTEOLYSIS SYNDROME, Journal of investigative medicine, 46(1), 1998, pp. 131-131
PROTEOGLYCAN SULFATION IN CARTILAGE AND CELL-CULTURES FROM PATIENTS WITH SULFATE TRANSPORTER CHONDRODYSPLASIAS - RELATIONSHIP TO CLINICAL SEVERITY AND INDICATIONS ON THE ROLE OF INTRACELLULAR SULFATE PRODUCTION
Authors: ROSSI A KAITILA I WILCOX WR RIMOIN DL STEINMANN B CETTA G SUPERTIFURGA A
Citation: A. Rossi et al., PROTEOGLYCAN SULFATION IN CARTILAGE AND CELL-CULTURES FROM PATIENTS WITH SULFATE TRANSPORTER CHONDRODYSPLASIAS - RELATIONSHIP TO CLINICAL SEVERITY AND INDICATIONS ON THE ROLE OF INTRACELLULAR SULFATE PRODUCTION, Matrix biology, 17(5), 1998, pp. 361-369
NEPHRONOPHTHISIS ASSOCIATED WITH ELLIS-VAN-CREVELD-SYNDROME
Authors: MOUDGIL A BAGGA A KAMIL ES RIMOIN DL LACHMAN RS COHEN AH JORDAN SC
Citation: A. Moudgil et al., NEPHRONOPHTHISIS ASSOCIATED WITH ELLIS-VAN-CREVELD-SYNDROME, Pediatric nephrology, 12(1), 1998, pp. 20-22
EXTRA PELVIC OSSIFICATION CENTERS IN THANATOPHORIC DYSPLASIA AND PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA-SAN DIEGO TYPE
Authors: KITOH H LACHMAN RS BRODIE SG MEKIKIAN PB RIMOIN DL WILCOX WR
Citation: H. Kitoh et al., EXTRA PELVIC OSSIFICATION CENTERS IN THANATOPHORIC DYSPLASIA AND PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA-SAN DIEGO TYPE, Pediatric radiology, 28(10), 1998, pp. 759-763
MESOMELIC SHORTENING OF THE UPPER EXTREMITIES WITH SPUR FORMATION ANDCUTANEOUS DIMPLING
Authors: KERNER B RIMOIN DL LACHMAN RS
Citation: B. Kerner et al., MESOMELIC SHORTENING OF THE UPPER EXTREMITIES WITH SPUR FORMATION ANDCUTANEOUS DIMPLING, Pediatric radiology, 28(10), 1998, pp. 794-797
RADIOGRAPHIC AND MORPHOLOGIC FINDINGS IN A PREVIOUSLY UNDESCRIBED TYPE OF MESOMELIC DYSPLASIA RESEMBLING ATELOSTEOGENESIS TYPE-II
Authors: BRODIE SG LACHMAN RS CRANDALL BF FOX MA RIMOIN DL COHN DH WILCOX WR
Citation: Sg. Brodie et al., RADIOGRAPHIC AND MORPHOLOGIC FINDINGS IN A PREVIOUSLY UNDESCRIBED TYPE OF MESOMELIC DYSPLASIA RESEMBLING ATELOSTEOGENESIS TYPE-II, American journal of medical genetics, 80(3), 1998, pp. 247-251
INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997)
Authors: RIMOIN DL FRANCOMANO CA GIEDION A HALL C KAITILA I COHN D GORLIN R HALL J HORTON W KRAKOW D LEMERRER M LACHMAN R MUNDLOS S POZNANSKI AK SILLENCE D SUPERTIFURGA A WILCOX W
Citation: Dl. Rimoin et al., INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997), American journal of medical genetics, 79(5), 1998, pp. 376-382
DISTINCT, AUTOSOMAL RECESSIVE FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA SEGREGATING IN AN INBRED PAKISTANI KINDRED
Authors: AHMAD M ULHAQUE MF AHMAD W ABBAS H HAQUE S KRAKOW D RIMOIN DL LACHMAN RS COHN DH
Citation: M. Ahmad et al., DISTINCT, AUTOSOMAL RECESSIVE FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA SEGREGATING IN AN INBRED PAKISTANI KINDRED, American journal of medical genetics, 78(5), 1998, pp. 468-473
MOLECULAR, RADIOLOGIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA
Authors: WILCOX WR TAVORMINA PL KRAKOW D KITOH H LACHMAN RS WASMUTH JJ THOMPSON LM RIMOIN DL
Citation: Wr. Wilcox et al., MOLECULAR, RADIOLOGIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA, American journal of medical genetics, 78(3), 1998, pp. 274-281
PACMAN DYSPLASIA - REPORT OF 2 AFFECTED SIBS
Authors: WILCOX WR LUCAS BC LOEBEL B BACHMAN RP LACHMAN RS RIMOIN DL
Citation: Wr. Wilcox et al., PACMAN DYSPLASIA - REPORT OF 2 AFFECTED SIBS, American journal of medical genetics, 77(4), 1998, pp. 272-276
LETHAL SYNDROME OF SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL-NERVOUS-SYSTEM DEGENERATION
Authors: KHOSRAVI M WEAVER DD BULL MJ LACHMAN R RIMOIN DL
Citation: M. Khosravi et al., LETHAL SYNDROME OF SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL-NERVOUS-SYSTEM DEGENERATION, American journal of medical genetics, 77(1), 1998, pp. 63-71
GRACILE BONE DYSPLASIA
Authors: THOMAS JA RIMOIN DL LACHMAN RS WILCOX WR
Citation: Ja. Thomas et al., GRACILE BONE DYSPLASIA, American journal of medical genetics, 75(1), 1998, pp. 95-100
STRUCTURALLY ABNORMAL TYPE-II COLLAGEN IN A SEVERE FORM OF KNIEST DYSPLASIA CAUSED BY AN EXON-24 SKIPPING MUTATION
Authors: WEIS MA WILKIN DJ KIM HJ WILCOX WR LACHMAN RS RIMOIN DL COHN DH EYRE DR
Citation: Ma. Weis et al., STRUCTURALLY ABNORMAL TYPE-II COLLAGEN IN A SEVERE FORM OF KNIEST DYSPLASIA CAUSED BY AN EXON-24 SKIPPING MUTATION, The Journal of biological chemistry, 273(8), 1998, pp. 4761-4768
INCORPORATION OF STRUCTURALLY DEFECTIVE TYPE-II COLLAGEN INTO CARTILAGE MATRIX IN KNIEST CHONDRODYSPLASIA
Authors: FERNANDES RJ WILKIN DJ WEIS MA WILCOX WR COHN DH RIMOIN DL EYRE DR
Citation: Rj. Fernandes et al., INCORPORATION OF STRUCTURALLY DEFECTIVE TYPE-II COLLAGEN INTO CARTILAGE MATRIX IN KNIEST CHONDRODYSPLASIA, Archives of biochemistry and biophysics (Print), 355(2), 1998, pp. 282-290
LOCALIZATION OF A MULTIPLE SYNOSTOSES SYNDROME DISEASE GENE TO CHROMOSOME 17Q21-22
Authors: KRAKOW D REINKER K POWELL B CANTOR R PRIORE MA GARBER A LACHMAN RS RIMOIN DL COHN DH
Citation: D. Krakow et al., LOCALIZATION OF A MULTIPLE SYNOSTOSES SYNDROME DISEASE GENE TO CHROMOSOME 17Q21-22, American journal of human genetics, 63(1), 1998, pp. 120-124
DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: BRIGGS MD MORTIER GR COLE WG KING LM GOLIK SS BONAVENTURE J NUYTINCK L DEPAEPE A LEROY JG BIESECKER L LIPSON M WILCOX WR LACHMAN RS RIMOIN DL KNOWLTON RG COHN DH
Citation: Md. Briggs et al., DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, American journal of human genetics, 62(2), 1998, pp. 311-319
BRACHYDACTYLY SHORT STATURE HYPERTENSION (BILGINTURAN)-SYNDROME - REPORT ON 2 FAMILIES
Authors: CHITAYAT D GRIX A BALFE JW ABRAMOWICZ JS GARZA J FONG CT SILVER MM SALLER DN BRESNICK GH GIEDION A LACHMAN RS RIMOIN DL
Citation: D. Chitayat et al., BRACHYDACTYLY SHORT STATURE HYPERTENSION (BILGINTURAN)-SYNDROME - REPORT ON 2 FAMILIES, American journal of medical genetics, 73(3), 1997, pp. 279-285
THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES
Authors: HUQ AHMM BRAVERMAN RM GREENBERG F BACINO CA RIMOIN DL LACHMAN RS LEVIN ML
Citation: Ahmm. Huq et al., THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES, American journal of medical genetics, 68(2), 1997, pp. 225-230
SPONDYLO-MESOMELIC-ACRODYSPLASIA WITH JOINT DISLOCATIONS AND SEVERE COMBINED IMMUNODEFICIENCY - A NEWLY RECOGNIZED IMMUNO-OSSEOUS DYSPLASIA
Authors: CASTRIOTASCANDERBEG A MINGARELLI R CARAMIA G OSIMANI P LACHMAN RS RIMOIN DL WILCOX WR DALLAPICCOLA B
Citation: A. Castriotascanderbeg et al., SPONDYLO-MESOMELIC-ACRODYSPLASIA WITH JOINT DISLOCATIONS AND SEVERE COMBINED IMMUNODEFICIENCY - A NEWLY RECOGNIZED IMMUNO-OSSEOUS DYSPLASIA, Journal of Medical Genetics, 34(10), 1997, pp. 854-856
RADIOGRAPHIC AND MORPHOLOGIC FINDINGS IN A PREVIOUSLY UNDESCRIBED TYPE OF ATELOSTEOGENESIS
Authors: BRODIE SG LACHMAN RS CRANDALL B FOX M RIMOIN DL COHN DH WILCOX WR
Citation: Sg. Brodie et al., RADIOGRAPHIC AND MORPHOLOGIC FINDINGS IN A PREVIOUSLY UNDESCRIBED TYPE OF ATELOSTEOGENESIS, American journal of human genetics, 61(4), 1997, pp. 513-513
MOLECULAR, RADIOLOGIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA
Authors: WILCOX WR TAVORMINA PL KRAKOW D LACHMAN RS WASMUTH JJ THOMPSON LM RIMOIN DL
Citation: Wr. Wilcox et al., MOLECULAR, RADIOLOGIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA, American journal of human genetics, 61(4), 1997, pp. 655-655
DIVERSE MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) GENE IN THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: COHN DH BRIGGS MD GOODART S KING LM GOLIK SS RIMOIN DL KNOWLTON RG
Citation: Dh. Cohn et al., DIVERSE MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) GENE IN THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, Journal of investigative medicine, 44(1), 1996, pp. 95-95
MOLECULAR, RADIOGRAPHIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA
Authors: WILCOX WR TAVORMINA PL SHIANG R THOMPSON LM ZHU YZ WILKIN DJ COHN DH WASMUTH JJ LACHMAN RS RIMOIN DL
Citation: Wr. Wilcox et al., MOLECULAR, RADIOGRAPHIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA, Journal of investigative medicine, 44(1), 1996, pp. 105-105
ACRODYSOSTOSIS - IS IT A G-PROTEIN ABNORMALITY
Authors: KRAKOW D BIESECKER L VANDOP C LACHMAN RS RIMOIN DL GRAHAM JM
Citation: D. Krakow et al., ACRODYSOSTOSIS - IS IT A G-PROTEIN ABNORMALITY, Journal of investigative medicine, 44(1), 1996, pp. 131-131
A NEW SKELETAL DYSPLASIA WITH EPIPHYSEAL STIPPLING AND OSTEOCLASTIC HYPERACTIVITY
Authors: LUCAS BC WILCOX WR BACHMAN R LOEBEL B LACHMAN RS RIMOIN DL
Citation: Bc. Lucas et al., A NEW SKELETAL DYSPLASIA WITH EPIPHYSEAL STIPPLING AND OSTEOCLASTIC HYPERACTIVITY, Journal of investigative medicine, 44(1), 1996, pp. 142-142
Risultati: 1-25 | 26-50 | 51-60