AAAAAA

   
Results: 1-12 |
Results: 12
PHENOTYPE OF THE FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 SER351CYS MUTATION - PFEIFFER-SYNDROME TYPE-III
Authors: GRIPP KW STOLLE CA MCDONALDMCGINN DM MARKOWITZ RI BARTLETT SP KATOWITZ JA MUENKE M ZACKAI EH
Citation: Kw. Gripp et al., PHENOTYPE OF THE FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 SER351CYS MUTATION - PFEIFFER-SYNDROME TYPE-III, American journal of medical genetics, 78(4), 1998, pp. 356-360
LOSS OF ONE ALLELE OF THE VON-HIPPEL-LINDAU TUMOR-SUPPRESSOR GENE - PHENOTYPIC ASSESSMENT
Authors: LYNE JC GLENN GM HUMPHREY JS CHOYKE PL ENQUIST EG HURLEY KM MANOLATOS C STOLLE CA ZHUANG Z OLDFIELD EH WALTHER MM ZBAR B KLAUSNER RD LINEHAN WM
Citation: Jc. Lyne et al., LOSS OF ONE ALLELE OF THE VON-HIPPEL-LINDAU TUMOR-SUPPRESSOR GENE - PHENOTYPIC ASSESSMENT, The Journal of urology, 159(5), 1998, pp. 561-561
A NEW TWIST - SOME PATIENTS WITH SAETHRE-CHOTZEN-SYNDROME HAVE A MICRODELETION SYNDROME
Authors: ZACKAI EH STOLLE CA
Citation: Eh. Zackai et Ca. Stolle, A NEW TWIST - SOME PATIENTS WITH SAETHRE-CHOTZEN-SYNDROME HAVE A MICRODELETION SYNDROME, American journal of human genetics, 63(5), 1998, pp. 1277-1281
RECURRENT COL3A1 MUTATION RESULTS IN EDS-IV OR FAMILIAL ANEURYSMS
Authors: ANDERSON DW THAKKERVARIA S STOLLE CA
Citation: Dw. Anderson et al., RECURRENT COL3A1 MUTATION RESULTS IN EDS-IV OR FAMILIAL ANEURYSMS, Human mutation, 9(5), 1997, pp. 475-475
A GLYCINE (415)-TO-SERINE SUBSTITUTION RESULTS IN IMPAIRED SECRETION AND DECREASED THERMAL-STABILITY OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV
Authors: ANDERSON DW THAKKERVARIA S TROMP G KUIVANIEMI H STOLLE CA
Citation: Dw. Anderson et al., A GLYCINE (415)-TO-SERINE SUBSTITUTION RESULTS IN IMPAIRED SECRETION AND DECREASED THERMAL-STABILITY OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV, Human mutation, 9(1), 1997, pp. 62-63
CHARACTERIZATION OF THE RAT CARBONIC-ANHYDRASE-II GENE STRUCTURE - SEQUENCE-ANALYSIS OF THE 5'-FLANKING REGION AND 3'-UTR
Authors: MCGOWAN MH NEUBAUER JA STOLLE CA
Citation: Mh. Mcgowan et al., CHARACTERIZATION OF THE RAT CARBONIC-ANHYDRASE-II GENE STRUCTURE - SEQUENCE-ANALYSIS OF THE 5'-FLANKING REGION AND 3'-UTR, Gene, 186(2), 1997, pp. 181-188
GENETIC DIAGNOSTIC TESTING IDENTIFIES VHL MUTATIONS IN 62 OF 65 KINDRED - ASSOCIATED FAMILY PHENOTYPES SHOW ONE OR MORE VON-HIPPEL-LINDAU-DISEASE NEOPLASMS OF KIDNEY, BRAIN, SPINE, PANCREAS, ADRENAL-GLANDS, RETINA, AND INNER-EAR
Authors: GLENN GM WALTHER M CHOYKE P HUMPHREY J HURLEY K MANOLATOS A STOLLE CA ZBAR B LINEHAN WM
Citation: Gm. Glenn et al., GENETIC DIAGNOSTIC TESTING IDENTIFIES VHL MUTATIONS IN 62 OF 65 KINDRED - ASSOCIATED FAMILY PHENOTYPES SHOW ONE OR MORE VON-HIPPEL-LINDAU-DISEASE NEOPLASMS OF KIDNEY, BRAIN, SPINE, PANCREAS, ADRENAL-GLANDS, RETINA, AND INNER-EAR, American journal of human genetics, 61(4), 1997, pp. 2119-2119
A PREVIOUSLY UNRECOGNIZED DISEASE-MODIFYING LOCUS ASSOCIATED WITH INCREASED SURVIVAL IN PATIENTS WITH ADVANCED HEART-FAILURE
Authors: LOH E REBBECK TR MAHONEY PD STOLLE CA SWAIN JL HOLMES EW
Citation: E. Loh et al., A PREVIOUSLY UNRECOGNIZED DISEASE-MODIFYING LOCUS ASSOCIATED WITH INCREASED SURVIVAL IN PATIENTS WITH ADVANCED HEART-FAILURE, Circulation, 94(8), 1996, pp. 2534-2534
ABERRANT SPLICING OF THE TYPE-III PROCOLLAGEN MESSENGER-RNA LEADS TO INTRACELLULAR DEGRADATION OF THE PROTEIN IN A PATIENT WITH EHLERS-DANLOS TYPE-IV
Authors: THAKKERVARIA S ANDERSON DW KUIVANIEMI H TROMP G SHIN HG VANDERREST M GLORIEUX FH ALAKOKKO L STOLLE CA
Citation: S. Thakkervaria et al., ABERRANT SPLICING OF THE TYPE-III PROCOLLAGEN MESSENGER-RNA LEADS TO INTRACELLULAR DEGRADATION OF THE PROTEIN IN A PATIENT WITH EHLERS-DANLOS TYPE-IV, Human mutation, 6(2), 1995, pp. 116-125
CHARACTERIZATION OF THE RAT CARBONIC ANHYDRASE-II GENE
Authors: MCGOWAN MH NEUBAUER JA STOLLE CA
Citation: Mh. Mcgowan et al., CHARACTERIZATION OF THE RAT CARBONIC ANHYDRASE-II GENE, Clinical research, 42(2), 1994, pp. 10000122-10000122
A TYPE-III PROCOLLAGEN GENE MUTATION IN A PATIENT WITH LATE-ONSET ANEURYSMS
Authors: ANDERSON DW TROMP G KUIVANIEMI H RICKETTS M POPE FM STOLLE CA BOYD CD
Citation: Dw. Anderson et al., A TYPE-III PROCOLLAGEN GENE MUTATION IN A PATIENT WITH LATE-ONSET ANEURYSMS, Clinical research, 42(2), 1994, pp. 10000200-10000200
A GLY(415) TO SER SUBSTITUTION RESULTS IN IMPAIRED SECRETION AND DECREASED THERMAL-STABILITY OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV
Authors: ANDERSON DW THAKKERVARIA S TROMP G KUIVANIEMI H STOLLE CA
Citation: Dw. Anderson et al., A GLY(415) TO SER SUBSTITUTION RESULTS IN IMPAIRED SECRETION AND DECREASED THERMAL-STABILITY OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV, Clinical research, 42(2), 1994, pp. 10000200-10000200
Risultati: 1-12 |