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Results: 1-25 | 26-50 | 51-67
Results: 1-25/67
SUBTLE RADIOGRAPHIC FINDINGS IN CROUZON-SYNDROME WITH ACANTHOSIS NIGRICANS
Authors: SCHWEITZER DN PRZYLEPA KA GRAHAM JM LACHMAN RS JABS EW
Citation: Dn. Schweitzer et al., SUBTLE RADIOGRAPHIC FINDINGS IN CROUZON-SYNDROME WITH ACANTHOSIS NIGRICANS, Journal of investigative medicine, 46(1), 1998, pp. 120-120
HUMAN SLUG GENE ORGANIZATION, EXPRESSION, AND CHROMOSOME MAP LOCATIONON 8Q
Authors: COHEN ME YIN MF PAZNEKAS WA SCHERTZER M WOOD S JABS EW
Citation: Me. Cohen et al., HUMAN SLUG GENE ORGANIZATION, EXPRESSION, AND CHROMOSOME MAP LOCATIONON 8Q, Genomics (San Diego, Calif.), 51(3), 1998, pp. 468-471
SYNDROME OF CORONAL CRANIOSYNOSTOSIS WITH BRACHYDACTYLY AND CARPAL TARSAL COALITION DUE TO PRO250ARG MUTATION IN FGFR3 GENE/
Authors: GRAHAM JM BRADDOCK SR MORTIER GR LACHMAN R VANDOP C JABS EW
Citation: Jm. Graham et al., SYNDROME OF CORONAL CRANIOSYNOSTOSIS WITH BRACHYDACTYLY AND CARPAL TARSAL COALITION DUE TO PRO250ARG MUTATION IN FGFR3 GENE/, American journal of medical genetics, 77(4), 1998, pp. 322-329
IDENTIFICATION OF NOVEL SUSCEPTIBILITY LOCI FOR INFLAMMATORY BOWEL-DISEASE ON CHROMOSOMES 1Q, 3Q, AND 4Q - EVIDENCE FOR EPISTASIS BETWEEN 1P AND IBD1
Authors: CHO JH NICOLAE DL GOLD LH FIELDS CT LABUDA MC ROHAL PM PICKLES MR QIN L FU YF MANN JS KIRSCHNER BS JABS EW WEBER J HANAUER SB BAYLESS TM BRANT SR
Citation: Jh. Cho et al., IDENTIFICATION OF NOVEL SUSCEPTIBILITY LOCI FOR INFLAMMATORY BOWEL-DISEASE ON CHROMOSOMES 1Q, 3Q, AND 4Q - EVIDENCE FOR EPISTASIS BETWEEN 1P AND IBD1, Proceedings of the National Academy of Sciences of the United Statesof America, 95(13), 1998, pp. 7502-7507
FAMILIAL CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS - CAP SYNDROME
Authors: FLANAGAN N BOYADJIEV SA HARPER J KYNE L EARLEY M WATSON R JABS EW GERAGHTY MT
Citation: N. Flanagan et al., FAMILIAL CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS - CAP SYNDROME, Journal of Medical Genetics, 35(9), 1998, pp. 763-766
AMERICAN FAMILIES WITH CROHNS-DISEASE HAVE STRONG EVIDENCE FOR LINKAGE TO CHROMOSOME-16 BUT NOT CHROMOSOME-12
Authors: BRANT SR FU YF FIELDS CT BALTAZAR R RAVENHILL G PICKLES MR ROHAL PM MANN J KIRSCHNER BS JABS EW BAYLESS TM HANAUER SB CHO JH
Citation: Sr. Brant et al., AMERICAN FAMILIES WITH CROHNS-DISEASE HAVE STRONG EVIDENCE FOR LINKAGE TO CHROMOSOME-16 BUT NOT CHROMOSOME-12, Gastroenterology (New York, N.Y. 1943), 115(5), 1998, pp. 1056-1061
A GENOME WIDE-SCREEN OF CROHNS-DISEASE IN A LARGE PEDIGREE SHOWS EVIDENCE FOR LINKAGES TO CHROMOSOME-11, CHROMOSOME-16, CHROMOSOME-8 AND CHROMOSOME-15
Authors: BRANT SR NICOLAE D LABUDA MC BALTAZAR R FIELDS C RAVENHILL G PICKLES M ROHAL PM JABS EW HANAUER SB BAYLESS TM CHO JH
Citation: Sr. Brant et al., A GENOME WIDE-SCREEN OF CROHNS-DISEASE IN A LARGE PEDIGREE SHOWS EVIDENCE FOR LINKAGES TO CHROMOSOME-11, CHROMOSOME-16, CHROMOSOME-8 AND CHROMOSOME-15, Gastroenterology, 114(4), 1998, pp. 3856-3856
TOWARD UNDERSTANDING THE PATHOGENESIS OF CRANIOSYNOSTOSIS THROUGH CLINICAL AND MOLECULAR CORRELATES
Authors: JABS EW
Citation: Ew. Jabs, TOWARD UNDERSTANDING THE PATHOGENESIS OF CRANIOSYNOSTOSIS THROUGH CLINICAL AND MOLECULAR CORRELATES, Clinical genetics, 53(2), 1998, pp. 79-86
ISOLATION AND ANALYSIS OF NOVEL GENES MAPPING TO THE CRITICAL REGION OF THE 5Q-SYNDROME
Authors: FIDLER C STRICKSON AJ SOULARUE P KOSTRZEWA M JAJU RJ WATKINS F MONACO AP MULLER U LOVETT M JABS EW AUFFRAY C BOULTWOOD J WAINSCOAT JS
Citation: C. Fidler et al., ISOLATION AND ANALYSIS OF NOVEL GENES MAPPING TO THE CRITICAL REGION OF THE 5Q-SYNDROME, British Journal of Haematology, 102(1), 1998, pp. 8-8
GENETIC-HETEROGENEITY OF SAETHRE-CHOTZEN-SYNDROME, DUE TO TWIST AND FGFR MUTATIONS
Authors: PAZNEKAS WA CUNNINGHAM ML HOWARD TD KORF BR LIPSON MH GRIX AW FEINGOLD M GOLDBERG R BOROCHOWITZ Z ALECK K MULLIKEN J YIN MF JABS EW
Citation: Wa. Paznekas et al., GENETIC-HETEROGENEITY OF SAETHRE-CHOTZEN-SYNDROME, DUE TO TWIST AND FGFR MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1370-1380
MUTATIONS IN TWIST, A BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, INSAETHRE-CHOTZEN SYNDROME
Authors: HOWARD TD PAZNEKAS WA GREEN ED CHIANG LC MA N DELUNA RIO DELGADO CG GONZALEZRAMOS M KLINE AD JABS EW
Citation: Td. Howard et al., MUTATIONS IN TWIST, A BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, INSAETHRE-CHOTZEN SYNDROME, Nature genetics, 15(1), 1997, pp. 36-41
GENOTYPE-PHENOTYPE CORRELATION FOR NUCLEOTIDE SUBSTITUTIONS IN THE IGII-IGIII LINKER OF FGFR2
Authors: OLDRIDGE M LUNT PW ZACKAI EH MCDONALDMCGINN DM MUENKE M MOLONEY DM TWIGG SRF HEATH JK HOWARD TD HOGANSON G GAGNON DM JABS EW WILKIE AOM
Citation: M. Oldridge et al., GENOTYPE-PHENOTYPE CORRELATION FOR NUCLEOTIDE SUBSTITUTIONS IN THE IGII-IGIII LINKER OF FGFR2, Human molecular genetics, 6(1), 1997, pp. 137-143
NOVEL GENES MAPPING TO THE CRITICAL REGION OF THE 5Q-SYNDROME
Authors: BOULTWOOD J FIDLER C SOULARUE P STRICKSON AJ KOSTRZEWA M JAJU RJ COTTER FE FAIRWEATHER N MONACO AP MULLER U LOVETT M JABS EW AUFFRAY C WAINSCOAT JS
Citation: J. Boultwood et al., NOVEL GENES MAPPING TO THE CRITICAL REGION OF THE 5Q-SYNDROME, Genomics, 45(1), 1997, pp. 88-96
PRENATAL ULTRASONOGRAPHIC AND MOLECULAR DIAGNOSIS OF APERT-SYNDROME
Authors: FILKINS K RUSSO JF BOEHMER S CAMOUS M PRZYLEPA KA JIANG W JABS EW
Citation: K. Filkins et al., PRENATAL ULTRASONOGRAPHIC AND MOLECULAR DIAGNOSIS OF APERT-SYNDROME, Prenatal diagnosis, 17(11), 1997, pp. 1081-1084
TCOF1 GENE ENCODES A PUTATIVE NUCLEOLAR PHOSPHOPROTEIN THAT EXHIBITS MUTATIONS IN TREACHER-COLLINS-SYNDROME THROUGHOUT ITS CODING REGION
Authors: WISE CA CHIANG LC PAZNEKAS WA SHARMA M MUSY MM ASHLEY JA LOVETT M JABS EW
Citation: Ca. Wise et al., TCOF1 GENE ENCODES A PUTATIVE NUCLEOLAR PHOSPHOPROTEIN THAT EXHIBITS MUTATIONS IN TREACHER-COLLINS-SYNDROME THROUGHOUT ITS CODING REGION, Proceedings of the National Academy of Sciences of the United Statesof America, 94(7), 1997, pp. 3110-3115
MOUSE TCOF1 IS EXPRESSED WIDELY, HAS MOTIFS CONSERVED IN NUCLEOLAR PHOSPHOPROTEINS, AND MAPS TO CHROMOSOME-18
Authors: PAZNEKAS WA ZHANG N GRIDLEY T JABS EW
Citation: Wa. Paznekas et al., MOUSE TCOF1 IS EXPRESSED WIDELY, HAS MOTIFS CONSERVED IN NUCLEOLAR PHOSPHOPROTEINS, AND MAPS TO CHROMOSOME-18, Biochemical and biophysical research communications, 238(1), 1997, pp. 1-6
AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16, IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS
Authors: HOWARD TD GUTTMACHER AE MCKINNON W SHARMA M MCKUSICK VA JABS EW
Citation: Td. Howard et al., AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16, IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS, American journal of human genetics, 61(6), 1997, pp. 1405-1412
GENETIC-HETEROGENEITY IN SAETHTE-CHOTZEN-SYNDROME IS DUE TO TWIST, FGFR2, AND FGFR3 MUTATIONS
Authors: HOWARD TD CUNNINGHAM ML KON BR LIPSON MHJ GRIX AW FEINGOLD M GOLDBERG R YIN M PAZNEKAS WA JABS EW
Citation: Td. Howard et al., GENETIC-HETEROGENEITY IN SAETHTE-CHOTZEN-SYNDROME IS DUE TO TWIST, FGFR2, AND FGFR3 MUTATIONS, American journal of human genetics, 61(4), 1997, pp. 229-229
AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16 IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS
Authors: MCKINNON W GUTTMACHER AE HOWARD TD MCKUSICK VA JABS EW
Citation: W. Mckinnon et al., AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16 IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS, American journal of human genetics, 61(4), 1997, pp. 253-253
LINKAGE ANALYSIS OF US FAMILIES WITH CROHNS-DISEASE TO 4 PUTATIVE SUSCEPTIBILITY LOCI ON CHROMOSOME-3, CHROMOSOME-7, CHROMOSOME-12 AND CHROMOSOME-16
Authors: BRANT SR FU Y FIELDS C BALTAZAR R PICKLES M ROHAL P MANN J GOLD LH KIRSCHNER BS JABS EW BAYLESS TM HANAUER SB CHO J
Citation: Sr. Brant et al., LINKAGE ANALYSIS OF US FAMILIES WITH CROHNS-DISEASE TO 4 PUTATIVE SUSCEPTIBILITY LOCI ON CHROMOSOME-3, CHROMOSOME-7, CHROMOSOME-12 AND CHROMOSOME-16, American journal of human genetics, 61(4), 1997, pp. 1565-1565
CRANIOSYNOSTOSIS AND SKELETAL DYSPLASIAS - FIBROBLAST GROWTH-FACTOR RECEPTOR DEFECTS
Authors: LEWANDA AF MEYER GA JABS EW
Citation: Af. Lewanda et al., CRANIOSYNOSTOSIS AND SKELETAL DYSPLASIAS - FIBROBLAST GROWTH-FACTOR RECEPTOR DEFECTS, Proceedings of the Association of American Physicians, 108(1), 1996, pp. 19-24
FIBROBLAST GROWTH-FACTOR RECEPTOR-2 MUTATIONS IN BEARE-STEVENSON CUTIS GYRATA SYNDROME
Authors: PRZYLEPA KA PAZNEKAS W ZHANG MH GOLABI M BIAS W BAMSHAD MJ CAREY JC HALL BD STEVENSON R ORLOW SJ COHEN MM JABS EW
Citation: Ka. Przylepa et al., FIBROBLAST GROWTH-FACTOR RECEPTOR-2 MUTATIONS IN BEARE-STEVENSON CUTIS GYRATA SYNDROME, Nature genetics, 13(4), 1996, pp. 492-494
A NHE3-RELATED PSEUDOGENE IS ON HUMAN-CHROMOSOME-10 - THE FUNCTIONAL GENE MAPS TO 5P15.3
Authors: KOKKE FTM ELSAWY T BENGTSSON U WASMUTH JJ JABS EW TSE CM DONOWITZ M BRANT SR
Citation: Ftm. Kokke et al., A NHE3-RELATED PSEUDOGENE IS ON HUMAN-CHROMOSOME-10 - THE FUNCTIONAL GENE MAPS TO 5P15.3, Mammalian genome, 7(3), 1996, pp. 235-236
HOT PAPERS - MOLECULAR-GENETICS - JACKSON-WEISS AND CROUZON SYNDROMESARE ALLELIC WITH MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR 2 BY JABS,E.W., LI,X., SCOTT,A.F., MEYERS,G., CHEN,W., ECCLES,M.. MAO,J.I.,CHARNAS,L.R., JACKSON,C.E., JAYE,M. - COMMENTS
Authors: JABS EW
Citation: Ew. Jabs, HOT PAPERS - MOLECULAR-GENETICS - JACKSON-WEISS AND CROUZON SYNDROMESARE ALLELIC WITH MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR 2 BY JABS,E.W., LI,X., SCOTT,A.F., MEYERS,G., CHEN,W., ECCLES,M.. MAO,J.I.,CHARNAS,L.R., JACKSON,C.E., JAYE,M. - COMMENTS, The Scientist, 10(24), 1996, pp. 15-15
PRIMARY TRANSCRIPTION MAP OF THE CRITICAL REGION OF THE 5Q-SYNDROME
Authors: BOULTWOOD J FIDLER C SOULARUE P KOSTRZEWA M STRICKSON A JAJU R COTTER F JABS EW LOVETT M MULLER U AUFFRAY C WAINSCOAT WS
Citation: J. Boultwood et al., PRIMARY TRANSCRIPTION MAP OF THE CRITICAL REGION OF THE 5Q-SYNDROME, Blood, 88(10), 1996, pp. 374-374
Risultati: 1-25 | 26-50 | 51-67