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Results: 1-25 | 26-47
Results: 1-25/47
MARSHALL-SYNDROME ASSOCIATED WITH A SPLICING DEFECT AT THE COL11A1 LOCUS
Authors: GRIFFITH AJ SPRUNGER LK SIRKOOSADSA DA TILLER GE MEISLER MH WARMAN ML
Citation: Aj. Griffith et al., MARSHALL-SYNDROME ASSOCIATED WITH A SPLICING DEFECT AT THE COL11A1 LOCUS, American journal of human genetics, 62(4), 1998, pp. 816-823
HOMOZYGOSITY MAPPING OF ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, TO HUMAN-CHROMOSOME-9
Authors: VANHAERINGEN A POLINKOVSKY A MUNDLOS S ZABEL B THOMEER RTWM ZONDERLAND HM KANT SG WARMAN ML
Citation: A. Vanhaeringen et al., HOMOZYGOSITY MAPPING OF ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, TO HUMAN-CHROMOSOME-9, European journal of human genetics, 6, 1998, pp. 206-206
PHYSICAL AND LINKAGE MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3
Authors: TILLER GE WARMAN ML GONG Y KNOLL JHM MAYNE R BREWTON RG
Citation: Ge. Tiller et al., PHYSICAL AND LINKAGE MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3, Cytogenetics and cell genetics, 81(3-4), 1998, pp. 205-207
A MEMBER OF A FAMILY OF SULFATE-ACTIVATING ENZYMES CAUSES MURINE BRACHYMORPHISM (VOL 95, PG 8681, 1998)
Authors: KURIMA K WARMAN ML KRISHNAN S DOMOWICZ M KRUEGER RC DEYRUP A SCHWARTZ NB
Citation: K. Kurima et al., A MEMBER OF A FAMILY OF SULFATE-ACTIVATING ENZYMES CAUSES MURINE BRACHYMORPHISM (VOL 95, PG 8681, 1998), Proceedings of the National Academy of Sciences of the United Statesof America, 95(20), 1998, pp. 12071-12071
A MEMBER OF A FAMILY OF SULFATE-ACTIVATING ENZYMES CAUSES MURINE BRACHYMORPHISM
Authors: KURIMA K WARMAN ML KRISHNAN S DOMOWICZ M KRUEGER RC DEYRUP A SCHWARTZ NB
Citation: K. Kurima et al., A MEMBER OF A FAMILY OF SULFATE-ACTIVATING ENZYMES CAUSES MURINE BRACHYMORPHISM, Proceedings of the National Academy of Sciences of the United Statesof America, 95(15), 1998, pp. 8681-8685
STICKLER-SYNDROME WITHOUT EYE INVOLVEMENT IS CAUSED BY MUTATIONS IN COL11A2, THE GENE ENCODING THE ALPHA(2)(XI) CHAIN OF TYPE-XI COLLAGEN
Authors: SIRKOOSADSA D MURRAY MA SCOTT JA LAVERY MA WARMAN ML ROBIN NH
Citation: D. Sirkoosadsa et al., STICKLER-SYNDROME WITHOUT EYE INVOLVEMENT IS CAUSED BY MUTATIONS IN COL11A2, THE GENE ENCODING THE ALPHA(2)(XI) CHAIN OF TYPE-XI COLLAGEN, The Journal of pediatrics, 132(2), 1998, pp. 368-371
THE CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME - CLINICAL-FEATURES AND GENETIC-MAPPING TO HUMAN-CHROMOSOME-1
Authors: BAHABRI SA SUWAIRI WM LAXER RM POLINKOVSKY A DALAAN AA WARMAN ML
Citation: Sa. Bahabri et al., THE CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME - CLINICAL-FEATURES AND GENETIC-MAPPING TO HUMAN-CHROMOSOME-1, Arthritis and rheumatism, 41(4), 1998, pp. 730-735
MARSHALL-SYNDROME AND A DEFECT AT THE COL11A1 LOCUS - REPLY
Authors: WARMAN ML TILLER GE GRIFFITH AJ
Citation: Ml. Warman et al., MARSHALL-SYNDROME AND A DEFECT AT THE COL11A1 LOCUS - REPLY, American journal of human genetics, 63(5), 1998, pp. 1559-1561
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE MAPS TO HUMAN-CHROMOSOME-9
Authors: KANT SG POLINKOVSKY A MUNDLOS S ZABEL B THOMEER RTWM ZONDERLAND HM SHIH LY VANHAERINGEN A WARMAN ML
Citation: Sg. Kant et al., ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE MAPS TO HUMAN-CHROMOSOME-9, American journal of human genetics, 63(1), 1998, pp. 155-162
MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C
Authors: POLINKOVSKY A ROBIN NH THOMAS JT IRONS M LYNN A GOODMAN FR REARDON W KANT SG BRUNNER HG VANDERBURGT I CHITAYAT D MCGAUGHRAN J DONNAI D LUYTEN FP WARMAN ML
Citation: A. Polinkovsky et al., MUTATIONS IN CDMP1 CAUSE AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-C, Nature genetics, 17(1), 1997, pp. 18-19
RAPID PUBLICATION CLINICAL AND LOCUS HETEROGENEITY IN BRACHYDACTYLY TYPE-C
Authors: ROBIN NH GUNAYAYGUN M POLINKOVSKY A WARMAN ML MORRISON S
Citation: Nh. Robin et al., RAPID PUBLICATION CLINICAL AND LOCUS HETEROGENEITY IN BRACHYDACTYLY TYPE-C, American journal of medical genetics, 68(3), 1997, pp. 369-377
HEMANGIOMA IN TWINS
Authors: CHEUNG DSM WARMAN ML MULLIKEN JB
Citation: Dsm. Cheung et al., HEMANGIOMA IN TWINS, Annals of plastic surgery, 38(3), 1997, pp. 269-274
MOLECULAR BACKGROUND OF CONGENITAL VENOUS MALFORMATIONS
Authors: VIKKULA M BOON LM ZHUANG Z WARMAN ML LIOTTA L MULLIKEN JB OLSEN BR
Citation: M. Vikkula et al., MOLECULAR BACKGROUND OF CONGENITAL VENOUS MALFORMATIONS, American journal of human genetics, 61(4), 1997, pp. 51-51
BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1
Authors: ROBIN NH POLINKOVSKY A GUNAYAYGUN M THOMAS JT IRONS M LYNN A GOODMAN FR REARDON W KANT SG BRUNNER HG VANDERBURGT I CHITAYAT D MORRISON S LUYTEN FP WARMAN ML
Citation: Nh. Robin et al., BRACHYDACTYLY TYPE-C IS CAUSED BY MUTATIONS IN THE MORPHOGEN CDMP-1, American journal of human genetics, 61(4), 1997, pp. 251-251
AUTOSOMAL RECESSIVE CAMPTODACTYLY-ARTHROPATHY COXA VARA PERICARDITIS SYNDROME - CLINICAL-FEATURES AND GENETIC-MAPPING TO CHROMOSOME 1Q25-31
Authors: SUWAIRI WM BAHABRI SA LAXER RM POLINKOVSKY A WARMAN ML
Citation: Wm. Suwairi et al., AUTOSOMAL RECESSIVE CAMPTODACTYLY-ARTHROPATHY COXA VARA PERICARDITIS SYNDROME - CLINICAL-FEATURES AND GENETIC-MAPPING TO CHROMOSOME 1Q25-31, American journal of human genetics, 61(4), 1997, pp. 254-254
PHYSICAL AND LINKAGE MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3
Authors: TILLER GE WARMAN ML GONG Y KNOLL JHM MAYNE R BREWTON RG
Citation: Ge. Tiller et al., PHYSICAL AND LINKAGE MAPPING OF THE GENE FOR THE ALPHA-3 CHAIN OF TYPE-IX COLLAGEN, COL9A3, TO HUMAN-CHROMOSOME 20Q13.3, American journal of human genetics, 61(4), 1997, pp. 1735-1735
MARSHALL SYNDROME-ASSOCIATED WITH A SPLICING DEFECT AT THE COL11A1 LOCUS
Authors: GRIFFITH AJ SPRUNGER LK SIRKOOSADSA DA MEISLER MH WARMAN ML
Citation: Aj. Griffith et al., MARSHALL SYNDROME-ASSOCIATED WITH A SPLICING DEFECT AT THE COL11A1 LOCUS, American journal of human genetics, 61(4), 1997, pp. 1958-1958
A MUTATION IN THE GENE ENCODING THE ALPHA-2 CHAIN OF THE FIBRIL-ASSOCIATED COLLAGEN-IX, COL9A2, CAUSES MULTIPLE EPIPHYSEAL DYSPLASIA (EDM2)
Authors: MURAGAKI Y MARIMAN ECM VANBEERSUM SEC PERALA M VANMOURIK JBA WARMAN ML OLSEN BR HAMEL BCJ
Citation: Y. Muragaki et al., A MUTATION IN THE GENE ENCODING THE ALPHA-2 CHAIN OF THE FIBRIL-ASSOCIATED COLLAGEN-IX, COL9A2, CAUSES MULTIPLE EPIPHYSEAL DYSPLASIA (EDM2), Nature genetics, 12(1), 1996, pp. 103-105
VASCULAR DYSMORPHOGENESIS CAUSED BY AN ACTIVATING MUTATION IN THE RECEPTOR TYROSINE KINASE TIE2
Authors: VIKKULA M BOON LM CARRAWAY KL CALVERT JT DIAMONTI AJ GOUMNEROV B PASYK KA MARCHUK DA WARMAN ML CANTLEY LC MULLIKEN JB OLSEN BR
Citation: M. Vikkula et al., VASCULAR DYSMORPHOGENESIS CAUSED BY AN ACTIVATING MUTATION IN THE RECEPTOR TYROSINE KINASE TIE2, Cell, 87(7), 1996, pp. 1181-1190
MOLECULAR-GENETICS AND CRANIOFACIAL SURGERY
Authors: MULLIKEN JB WARMAN ML
Citation: Jb. Mulliken et Ml. Warman, MOLECULAR-GENETICS AND CRANIOFACIAL SURGERY, Plastic and reconstructive surgery, 97(3), 1996, pp. 666-675
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, A DISORDER AFFECTING SKELETAL STRENGTH AND VISION, IS ASSIGNED TO CHROMOSOME REGION 11Q12-13
Authors: GONG YQ VIKKULA M BOON L LIU J BEIGHTON P RAMESAR R PELTONEN L SOMER H HIROSE T DALLAPICCOLA B DEPAEPE A SWOBODA W ZABEL B SUPERTIFURGA A STEINMANN B BRUNNER HG JANS A BOLES RG ADKINS W VANDENBOOGAARD MJ OLSEN BR WARMAN ML
Citation: Yq. Gong et al., OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, A DISORDER AFFECTING SKELETAL STRENGTH AND VISION, IS ASSIGNED TO CHROMOSOME REGION 11Q12-13, American journal of human genetics, 59(1), 1996, pp. 146-151
GENETIC-MAPPING OF CLEIDOCRANIAL DYSPLASIA AND EVIDENCE OF A MICRODELETION IN ONE FAMILY
Authors: MUNDLOS S MULLIKEN JB ABRAMSON DL WARMAN ML KNOLL JHM OLSEN BR
Citation: S. Mundlos et al., GENETIC-MAPPING OF CLEIDOCRANIAL DYSPLASIA AND EVIDENCE OF A MICRODELETION IN ONE FAMILY, Human molecular genetics, 4(1), 1995, pp. 71-75
MOLECULAR-CLONING OF THE ALPHA-3 CHAIN OF HUMAN TYPE-IX COLLAGEN - LINKAGE OF THE GENE COL9A3 TO CHROMOSOME 20Q13.3
Authors: BREWTON RG WOOD BM REN ZX GONG YQ TILLER GE WARMAN ML LEE B HORTON WA OLSEN BR BAKER JR MAYNE R
Citation: Rg. Brewton et al., MOLECULAR-CLONING OF THE ALPHA-3 CHAIN OF HUMAN TYPE-IX COLLAGEN - LINKAGE OF THE GENE COL9A3 TO CHROMOSOME 20Q13.3, Genomics, 30(2), 1995, pp. 329-336
A FIBRILLAR COLLAGEN GENE, COL11A1, IS ESSENTIAL FOR SKELETAL MORPHOGENESIS
Authors: LI Y LACERDA DA WARMAN ML BEIER DR YOSHIOKA H NINOMIYA Y OXFORD JT MORRIS NP ANDRIKOPOULOS K RAMIREZ F WARDELL BB LIFFERTH GD TEUSCHER C WOODWARD SR TAYLOR BA SEEGMILLER RE OLSEN BR
Citation: Y. Li et al., A FIBRILLAR COLLAGEN GENE, COL11A1, IS ESSENTIAL FOR SKELETAL MORPHOGENESIS, Cell, 80(3), 1995, pp. 423-430
AUTOSOMAL-DOMINANT AND RECESSIVE OSTEOCHONDRODYSPLASIAS ASSOCIATED WITH THE COL11A2 LOCUS
Authors: VIKKULA M MARIMAN ECM LUI VCH ZHIDKOVA NI TILLER GE GOLDRING MB VANBEERSUM SEC MALEFIJT MCD VANDENHOOGEN FHJ ROPERS HH MAYNE R CHEAH KSE OLSEN BR WARMAN ML BRUNNER HG
Citation: M. Vikkula et al., AUTOSOMAL-DOMINANT AND RECESSIVE OSTEOCHONDRODYSPLASIAS ASSOCIATED WITH THE COL11A2 LOCUS, Cell, 80(3), 1995, pp. 431-437
Risultati: 1-25 | 26-47