AAAAAA

   
Results: 1-25 | 26-48
Results: 1-25/48
DUPLICATION OF ALMOST HALF THE COL1A2 GENE OF TYPE-I COLLAGEN IN A CHILD WITH MILD FEATURES OF OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS-SYNDROME
Authors: RAFF ML CRAIGEN WJ SMITH LT KEENE D BYERS PH
Citation: Ml. Raff et al., DUPLICATION OF ALMOST HALF THE COL1A2 GENE OF TYPE-I COLLAGEN IN A CHILD WITH MILD FEATURES OF OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS-SYNDROME, Journal of investigative medicine, 46(1), 1998, pp. 87-87
BRITTLE BONES, FRAGILE MOLECULES - THE MOLECULAR-BASIS OF OSTEOGENESIS IMPERFECTA
Authors: BYERS PH
Citation: Ph. Byers, BRITTLE BONES, FRAGILE MOLECULES - THE MOLECULAR-BASIS OF OSTEOGENESIS IMPERFECTA, European journal of human genetics, 6, 1998, pp. 29-29
CONSTITUTIVE SKIPPING OF ALTERNATIVELY SPLICED EXON-10 IN THE ATP7A GENE ABOLISHES GOLGI LOCALIZATION OF THE MENKES PROTEIN AND PRODUCES THE OCCIPITAL HORN SYNDROME (VOL 7, PG 465, 1998)
Authors: QI M BYERS PH
Citation: M. Qi et Ph. Byers, CONSTITUTIVE SKIPPING OF ALTERNATIVELY SPLICED EXON-10 IN THE ATP7A GENE ABOLISHES GOLGI LOCALIZATION OF THE MENKES PROTEIN AND PRODUCES THE OCCIPITAL HORN SYNDROME (VOL 7, PG 465, 1998), Human molecular genetics, 7(6), 1998, pp. 1059-1059
CONSTITUTIVE SKIPPING OF ALTERNATIVELY SPLICED EXON-10 IN THE ATP7A GENE ABOLISHES GOLGI LOCALIZATION OF THE MENKES PROTEIN AND PRODUCES THE OCCIPITAL HORN SYNDROME
Authors: QI M BYERS PH
Citation: M. Qi et Ph. Byers, CONSTITUTIVE SKIPPING OF ALTERNATIVELY SPLICED EXON-10 IN THE ATP7A GENE ABOLISHES GOLGI LOCALIZATION OF THE MENKES PROTEIN AND PRODUCES THE OCCIPITAL HORN SYNDROME, Human molecular genetics, 7(3), 1998, pp. 465-469
PEDIGREES - PUBLISH - OR PERISH THE THOUGHT
Authors: BYERS PH ASHKENAS J
Citation: Ph. Byers et J. Ashkenas, PEDIGREES - PUBLISH - OR PERISH THE THOUGHT, American journal of human genetics, 63(3), 1998, pp. 678-681
STRATEGIES AND OUTCOMES OF PRENATAL-DIAGNOSIS FOR OSTEOGENESIS-IMPERFECTA - A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES
Authors: PEPIN M ATKINSON M STARMAN BJ BYERS PH
Citation: M. Pepin et al., STRATEGIES AND OUTCOMES OF PRENATAL-DIAGNOSIS FOR OSTEOGENESIS-IMPERFECTA - A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES, Prenatal diagnosis, 17(6), 1997, pp. 559-570
EHLERS-DANLOS-SYNDROME TYPE VIIA AND VIIB RESULT FROM SPLICE-JUNCTIONMUTATIONS OR GENOMIC DELETIONS THAT INVOLVE EXON-6 IN THE COL1A1 AND COL1A2 GENES OF TYPE-I COLLAGEN
Authors: BYERS PH DUVIC M ATKINSON M ROBINOW M SMITH LT KRANE SM GREALLY MT LUDMAN M MATALON R PAUKER S QUANBECK D SCHWARZE U
Citation: Ph. Byers et al., EHLERS-DANLOS-SYNDROME TYPE VIIA AND VIIB RESULT FROM SPLICE-JUNCTIONMUTATIONS OR GENOMIC DELETIONS THAT INVOLVE EXON-6 IN THE COL1A1 AND COL1A2 GENES OF TYPE-I COLLAGEN, American journal of medical genetics, 72(1), 1997, pp. 94-105
MUTATIONS IN THE COL3A1 GENE RESULT IN THE EHLERS-DANLOS SYNDROME TYPE-IV AND ALTERATIONS THE SIZE AND DISTRIBUTION OF THE MAJOR COLLAGEN FIBRILS OF THE DERMIS
Authors: SMITH LT SCHWARZE U GOLDSTEIN J BYERS PH
Citation: Lt. Smith et al., MUTATIONS IN THE COL3A1 GENE RESULT IN THE EHLERS-DANLOS SYNDROME TYPE-IV AND ALTERATIONS THE SIZE AND DISTRIBUTION OF THE MAJOR COLLAGEN FIBRILS OF THE DERMIS, Journal of investigative dermatology, 108(3), 1997, pp. 241-247
SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV
Authors: SCHWARZE U GOLDSTEIN JA BYERS PH
Citation: U. Schwarze et al., SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV, American journal of human genetics, 61(6), 1997, pp. 1276-1286
TRICHORHINOPHALANGEAL SYNDROME TYPE-I - GENETIC AND CLINICAL ANALYSISOF AN EXTENDED FAMILY
Authors: RAFF ML MATSUSHITA M RASKIND WH BYERS PH
Citation: Ml. Raff et al., TRICHORHINOPHALANGEAL SYNDROME TYPE-I - GENETIC AND CLINICAL ANALYSISOF AN EXTENDED FAMILY, American journal of human genetics, 61(4), 1997, pp. 14-14
MIXED OSTEOGENESIS IMPERFECTA EHLERS-DANLOS PHENOTYPE IN A FAMILY WITH AN EXON-9 SKIPPING MUTATION IN THE COL1A2 GENE OF TYPE-I COLLAGEN
Authors: NATHANSON KL MILLS J ATKINSON M CARPENTIERI D BYERS PH KAPLAN P
Citation: Kl. Nathanson et al., MIXED OSTEOGENESIS IMPERFECTA EHLERS-DANLOS PHENOTYPE IN A FAMILY WITH AN EXON-9 SKIPPING MUTATION IN THE COL1A2 GENE OF TYPE-I COLLAGEN, American journal of human genetics, 61(4), 1997, pp. 607-607
PERINATAL HYPOPHOSPHATASIA AND OSTEOGENESIS IMPERFECTA TYPE-I - BIOCHEMICAL-DIAGNOSIS OF 2 SKELETAL DISORDERS IN A NEONATE
Authors: GOTTESMAN GS BERNHARD LM MCALISTER WH BYERS PH WHYTE MP
Citation: Gs. Gottesman et al., PERINATAL HYPOPHOSPHATASIA AND OSTEOGENESIS IMPERFECTA TYPE-I - BIOCHEMICAL-DIAGNOSIS OF 2 SKELETAL DISORDERS IN A NEONATE, American journal of human genetics, 61(4), 1997, pp. 1461-1461
BELLS AND WHISTLES
Authors: BYERS PH
Citation: Ph. Byers, BELLS AND WHISTLES, American journal of human genetics, 61(3), 1997, pp. 473-474
THE FINAL STAGE OF GENE-EXPRESSION - CHAPERONES AND THE REGULATION OFPROTEIN FATE
Authors: ASHKENAS J BYERS PH
Citation: J. Ashkenas et Ph. Byers, THE FINAL STAGE OF GENE-EXPRESSION - CHAPERONES AND THE REGULATION OFPROTEIN FATE, American journal of human genetics, 61(2), 1997, pp. 267-272
AORTIC ROOT COMPLICATIONS IN MARFANS-SYNDROME - IDENTIFICATION OF A LOWER RISK GROUP
Authors: LEGGET ME UNGER TA OSULLIVAN CK ZWINK TR BENNETT RL BYERS PH OTTO CM
Citation: Me. Legget et al., AORTIC ROOT COMPLICATIONS IN MARFANS-SYNDROME - IDENTIFICATION OF A LOWER RISK GROUP, HEART, 75(4), 1996, pp. 389-395
A TRANSLOCATION INTERRUPTS THE COL5A1 GENE IN A PATIENT WITH EHLERS-DANLOS SYNDROME AND HYPOMELANOSIS OF ITO
Authors: TORIELLO HV GLOVER TW TAKAHARA K BYERS PH MILLER DE HIGGINS JV GREENSPAN DS
Citation: Hv. Toriello et al., A TRANSLOCATION INTERRUPTS THE COL5A1 GENE IN A PATIENT WITH EHLERS-DANLOS SYNDROME AND HYPOMELANOSIS OF ITO, Nature genetics, 13(3), 1996, pp. 361-365
DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23-32 OF THE FBN1 GENE
Authors: PUTNAM EA CHO M ZINN AB TOWBIN JA BYERS PH MILEWICZ DM
Citation: Ea. Putnam et al., DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23-32 OF THE FBN1 GENE, American journal of medical genetics, 62(3), 1996, pp. 233-242
SPONTANEOUS MULTIVESSEL CERVICAL ARTERY DISSECTION IN A PATIENT WITH A SUBSTITUTION OF ALANINE FOR GLYCINE (G13A) IN THE ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN
Authors: MAYER SA RUBIN BS STARMAN BJ BYERS PH
Citation: Sa. Mayer et al., SPONTANEOUS MULTIVESSEL CERVICAL ARTERY DISSECTION IN A PATIENT WITH A SUBSTITUTION OF ALANINE FOR GLYCINE (G13A) IN THE ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN, Neurology, 47(2), 1996, pp. 552-556
SPONTANEOUS MULTIVESSEL CERVICAL ARTERY DISSECTION IN A PATIENT WITH A SUBSTITUTION OF ALANINE FOR GLYCINE (G013A) IN THE ALPHA-1 (I) CHAINOF TYPE-I COLLAGEN
Authors: RUBIN BS MAYER SA STARMAN BJ BYERS PH
Citation: Bs. Rubin et al., SPONTANEOUS MULTIVESSEL CERVICAL ARTERY DISSECTION IN A PATIENT WITH A SUBSTITUTION OF ALANINE FOR GLYCINE (G013A) IN THE ALPHA-1 (I) CHAINOF TYPE-I COLLAGEN, Neurology, 46(2), 1996, pp. 2013-2013
STUDIES OF COLLAGEN-SYNTHESIS AND STRUCTURE IN THE DIFFERENTIATION OFCHILD-ABUSE FROM OSTEOGENESIS IMPERFECTA
Authors: STEINER RD PEPIN M BYERS PH
Citation: Rd. Steiner et al., STUDIES OF COLLAGEN-SYNTHESIS AND STRUCTURE IN THE DIFFERENTIATION OFCHILD-ABUSE FROM OSTEOGENESIS IMPERFECTA, The Journal of pediatrics, 128(4), 1996, pp. 542-547
A DIMORPHIC ALU SB-LIKE INSERTION IN COL3A1 IS ETHNIC-SPECIFIC
Authors: MILEWICZ DM BYERS PH REVEILLE J HUGHES AL DUVIC M
Citation: Dm. Milewicz et al., A DIMORPHIC ALU SB-LIKE INSERTION IN COL3A1 IS ETHNIC-SPECIFIC, Journal of molecular evolution, 42(2), 1996, pp. 117-123
CEREBROVASCULAR COMPLICATIONS IN EHLERS-DANLOS SYNDROME TYPE-IV
Authors: NORTH KN WHITEMAN DAH PEPIN MG BYERS PH
Citation: Kn. North et al., CEREBROVASCULAR COMPLICATIONS IN EHLERS-DANLOS SYNDROME TYPE-IV, Annals of neurology, 38(6), 1995, pp. 960-964
A GLY238SER SUBSTITUTION IN THE ALPHA-2 CHAIN OF TYPE-I COLLAGEN RESULTS IN OSTEOGENESIS IMPERFECTA TYPE-III
Authors: ROSE NJ MACKAY K BYERS PH DALGLEISH R
Citation: Nj. Rose et al., A GLY238SER SUBSTITUTION IN THE ALPHA-2 CHAIN OF TYPE-I COLLAGEN RESULTS IN OSTEOGENESIS IMPERFECTA TYPE-III, Human genetics, 95(2), 1995, pp. 215-218
SUBSTITUTIONS OF ASPARTIC-ACID FOR GLYCINE-220 AND OF ARGININE FOR GLYCINE-664 IN THE TRIPLE-HELIX OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I PROCOLLAGEN PRODUCE LETHAL OSTEOGENESIS IMPERFECTA AND DISRUPT THE ABILITY OF COLLAGEN FIBRILS TO INCORPORATE CRYSTALLINE HYDROXYAPATITE
Authors: CULBERT AA LOWE MP ATKINSON M BYERS PH WALLIS GA KADLER KE
Citation: Aa. Culbert et al., SUBSTITUTIONS OF ASPARTIC-ACID FOR GLYCINE-220 AND OF ARGININE FOR GLYCINE-664 IN THE TRIPLE-HELIX OF THE PRO-ALPHA-1(I) CHAIN OF TYPE-I PROCOLLAGEN PRODUCE LETHAL OSTEOGENESIS IMPERFECTA AND DISRUPT THE ABILITY OF COLLAGEN FIBRILS TO INCORPORATE CRYSTALLINE HYDROXYAPATITE, Biochemical journal, 311, 1995, pp. 815-820
EHLERS-DANLOS SYNDROME TYPE-IV - A GENETIC DISORDER IN MANY GUISES
Authors: BYERS PH
Citation: Ph. Byers, EHLERS-DANLOS SYNDROME TYPE-IV - A GENETIC DISORDER IN MANY GUISES, Journal of investigative dermatology, 105(3), 1995, pp. 311-313
Risultati: 1-25 | 26-48