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Results: 26-48/48
Authors:
SMITH LT
SCHWARZE U
GOLDSTEIN J
BYERS PH
Citation: Lt. Smith et al., DERMAL COLLAGEN STRUCTURE IN EHLERS-DANLOS SYNDROME TYPE-IV, Journal of investigative dermatology, 104(4), 1995, pp. 625-625
Authors:
LAMANDE SR
CHESSLER SD
GOLUB SB
BYERS PH
CHAN D
COLE WG
SILLENCE DO
BATEMAN JF
Citation: Sr. Lamande et al., ENDOPLASMIC RETICULUM-MEDIATED QUALITY-CONTROL OF TYPE-I COLLAGEN PRODUCTION BY CELLS FROM OSTEOGENESIS IMPERFECTA PATIENTS WITH MUTATIONS IN THE PRO-ALPHA-1(I) CHAIN CARBOXYL-TERMINAL PROPEPTIDE WHICH IMPAIR SUBUNIT ASSEMBLY, The Journal of biological chemistry, 270(15), 1995, pp. 8642-8649
Authors:
MILEWICZ DM
CHO M
ZINN AB
TOWBIN JA
BYERS PH
PUTNAM EA
Citation: Dm. Milewicz et al., DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23 THROUGH 32 OF THE FBN1 GENE, American journal of human genetics, 57(4), 1995, pp. 277-277
Authors:
ROSE NJ
MACKAY K
BYERS PH
DALGLEISH R
Citation: Nj. Rose et al., A GLY859SER SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF THE ALPHA-2 CHAIN OF TYPE-I COLLAGEN RESULTING IN OSTEOGENESIS-IMPERFECTA TYPE-IIIIN 2 UNRELATED INDIVIDUALS, Human mutation, 3(4), 1994, pp. 391-394
Authors:
TILSTRA DJ
LI L
POTTER KA
WOMACK J
BYERS PH
Citation: Dj. Tilstra et al., SEQUENCE OF THE CODING REGION OF THE BOVINE FIBRILLIN CDNA AND LOCALIZATION TO BOVINE CHROMOSOME-10, Genomics, 23(2), 1994, pp. 480-485
Authors:
TILSTRA DJ
BYERS PH
Citation: Dj. Tilstra et Ph. Byers, MOLECULAR-BASIS OF HEREDITARY DISORDERS OF CONNECTIVE-TISSUE, Annual review of medicine, 45, 1994, pp. 149-163
Authors:
BYERS PH
Citation: Ph. Byers, EHLERS-DANLOS SYNDROME - RECENT ADVANCES AND CURRENT UNDERSTANDING OFTHE CLINICAL AND GENETIC-HETEROGENEITY, Journal of investigative dermatology, 103(5), 1994, pp. 190000047-190000052
Authors:
LIGHTFOOT SJ
ATKINSON MS
MURPHY G
BYERS PH
KADLER KE
Citation: Sj. Lightfoot et al., SUBSTITUTION OF SERINE FOR GLYCINE-883 IN THE TRIPLE-HELIX OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I PROCOLLAGEN PRODUCES OSTEOGENESIS IMPERFECTA TYPE-IV AND INTRODUCES A STRUCTURAL-CHANGE IN THE TRIPLE-HELIX THATDOES NOT ALTER CLEAVAGE OF THE MOLECULE BY PROCOLLAGEN N-PROTEINASE, The Journal of biological chemistry, 269(48), 1994, pp. 30352-30357
Authors:
WITZ AM
BYERS PH
CHU J
Citation: Am. Witz et al., TYPE-III COLLAGEN MUTATIONS IN INDIVIDUALS WITH EHLERS-DANLOS SYNDROME TYPE-IV, Clinical research, 42(1), 1994, pp. 10000048-10000048
Authors:
WILLING MC
DESCHENES SP
SCOTT DA
BYERS PH
SLAYTON RL
PITTS SH
ARIKAT H
ROBERTS EJ
Citation: Mc. Willing et al., OSTEOGENESIS IMPERFECTA TYPE-I - MOLECULAR HETEROGENEITY FOR COL1A1 NULL ALLELES OF TYPE-I COLLAGEN, American journal of human genetics, 55(4), 1994, pp. 638-647
Authors:
BYERS PH
Citation: Ph. Byers, THE NEXT 5 YEARS, American journal of human genetics, 54(1), 1994, pp. 1-2
Authors:
BYERS PH
Citation: Ph. Byers, 2ND INTERNATIONAL-SYMPOSIUM ON THE MARFAN-SYNDROME, NOVEMBER 7-9, 1992, SAN-FRANCISCO, CA, Human mutation, 2(2), 1993, pp. 80-81
Authors:
COHN DH
ZHANG XM
BYERS PH
Citation: Dh. Cohn et al., HOMOLOGY-MEDIATED RECOMBINATION BETWEEN TYPE-I COLLAGEN GENE EXONS RESULTS IN AN INTERNAL TANDEM DUPLICATION AND LETHAL OSTEOGENESIS IMPERFECTA, Human mutation, 2(1), 1993, pp. 21-27
Authors:
MACKAY K
BYERS PH
DALGLEISH R
Citation: K. Mackay et al., AN RT-PCR-SSCP SCREENING STRATEGY FOR DETECTION OF MUTATIONS IN THE GENE ENCODING THE ALPHA-1 CHAIN OF TYPE-1 COLLAGEN - APPLICATION TO 4 PATIENTS WITH OSTEOGENESIS IMPERFECTA, Human molecular genetics, 2(8), 1993, pp. 1155-1160
Authors:
ROSE NJ
MACKAY K
BYERS PH
DALGLEISH R
Citation: Nj. Rose et al., A NOVEL GLYCINE TO GLUTAMIC-ACID SUBSTITUTION AT POSITION-343 IN THE ALPHA-2 CHAIN OF TYPE-I COLLAGEN IN AN INDIVIDUAL WITH LETHAL OSTEOGENESIS IMPERFECTA, Human molecular genetics, 2(12), 1993, pp. 2175-2177
Authors:
LABELL TL
BYERS PH
Citation: Tl. Labell et Ph. Byers, SEQUENCE AND CHARACTERIZATION OF THE COMPLETE HUMAN THROMBOSPONDIN-2 CDNA - POTENTIAL REGULATORY ROLE FOR THE 3' UNTRANSLATED REGION, Genomics, 17(1), 1993, pp. 225-229
Authors:
DIMAIO MS
BARTH R
KOPRIVNIKAR KE
SUSSMAN BL
COPEL JA
MAHONEY MJ
BYERS PH
COHN DH
Citation: Ms. Dimaio et al., 1ST-TRIMESTER PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA TYPE-II BY DNA ANALYSIS AND SONOGRAPHY, Prenatal diagnosis, 13(7), 1993, pp. 589-596
Authors:
WALLIS GA
SYKES B
BYERS PH
MATHEW CG
VILJOEN D
BEIGHTON P
Citation: Ga. Wallis et al., OSTEOGENESIS IMPERFECTA TYPE-III - MUTATIONS IN THE TYPE-I COLLAGEN STRUCTURAL GENES, COL1A1 AND COL1A2, ARE NOT NECESSARILY RESPONSIBLE, Journal of Medical Genetics, 30(6), 1993, pp. 492-496
Authors:
CHESSLER SD
WALLIS GA
BYERS PH
Citation: Sd. Chessler et al., MUTATIONS IN THE CARBOXYL-TERMINAL PROPEPTIDE OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN RESULT IN DEFECTIVE CHAIN ASSOCIATION AND PRODUCE LETHAL OSTEOGENESIS IMPERFECTA, The Journal of biological chemistry, 268(24), 1993, pp. 18218-18225
Authors:
CHESSLER SD
BYERS PH
Citation: Sd. Chessler et Ph. Byers, BIP BINDS TYPE-I PROCOLLAGEN PRO-ALPHA-CHAINS WITH MUTATIONS IN THE CARBOXYL-TERMINAL PROPEPTIDE SYNTHESIZED BY CELLS FROM PATIENTS WITH OSTEOGENESIS IMPERFECTA, The Journal of biological chemistry, 268(24), 1993, pp. 18226-18233
Authors:
GRENKO RT
BURNS SL
GOLDEN EA
BYERS PH
BOVIL EG
Citation: Rt. Grenko et al., TYPE-IV EHLERS-DANLOS SYNDROME WITH ASPIRIN SENSITIVITY - A FAMILY STUDY, Archives of pathology and laboratory medicine, 117(10), 1993, pp. 989-992
Authors:
HOYME HE
SEAVER LH
BYERS PH
Citation: He. Hoyme et al., FAMILIAL HYPERPHOSPHATASEMIA - EVIDENCE OF PROGRESSIVE BONY DEFORMITYDESPITE LONG-TERM HUMAN THYROCALCITONIN THERAPY, American journal of human genetics, 53(3), 1993, pp. 452-452
Authors:
MILEWICZ DM
WITZ AM
SMITH ACM
MANCHESTER DK
WALDSTEIN G
BYERS PH
Citation: Dm. Milewicz et al., PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A MULTIEXON DELETION WITH UNUSUAL END-POINTS IN A TYPE-III COLLAGEN (COL3A1) ALLELE PRODUCES EHLERS-DANLOS SYNDROME TYPE-IV IN THE HETEROZYGOUS OFFSPRING, American journal of human genetics, 53(1), 1993, pp. 62-70