AAAAAA

   
Results: 1-25 | 26-43
Results: 1-25/43
A 3-BASE PAIR INSERTIONAL MUTATION IN THE CHOROIDEREMIA GENE
Authors: NESSLINGER N HORROCKS S RAY PN STRASBERG P MACDONALD IM
Citation: N. Nesslinger et al., A 3-BASE PAIR INSERTIONAL MUTATION IN THE CHOROIDEREMIA GENE, Human mutation, 1998, pp. 38-39
LOCALIZATION OF DYSTROPHIN ISOFORM DP71 TO THE INNER LIMITING MEMBRANE OF THE RETINA SUGGESTS A UNIQUE FUNCTIONAL CONTRIBUTION OF DP71 IN THE RETINA
Authors: HOWARD PL DALLY GY WONG MH HO A WELEBER RG PILLERS DM RAY PN
Citation: Pl. Howard et al., LOCALIZATION OF DYSTROPHIN ISOFORM DP71 TO THE INNER LIMITING MEMBRANE OF THE RETINA SUGGESTS A UNIQUE FUNCTIONAL CONTRIBUTION OF DP71 IN THE RETINA, Human molecular genetics (Print), 7(9), 1998, pp. 1385-1391
FGFR2 MUTATION ASSOCIATED WITH CLINICAL MANIFESTATIONS CONSISTENT WITH ANTLEY-BIXLER-SYNDROME
Authors: CHUN K SIEGELBARTELT J CHITAYAT D PHILLIPS J RAY PN
Citation: K. Chun et al., FGFR2 MUTATION ASSOCIATED WITH CLINICAL MANIFESTATIONS CONSISTENT WITH ANTLEY-BIXLER-SYNDROME, American journal of medical genetics, 77(3), 1998, pp. 219-224
IMPACT OF CARRIER STATUS DETERMINATION FOR DUCHENNE BECKER MUSCULAR-DYSTROPHY BY COMPUTER-ASSISTED LASER DENSITOMETRY/
Authors: ALLINGHAMHAWKINS DJ MCGLYNNSTEELE LK BROWN CA SUTHERLAND J RAY PN
Citation: Dj. Allinghamhawkins et al., IMPACT OF CARRIER STATUS DETERMINATION FOR DUCHENNE BECKER MUSCULAR-DYSTROPHY BY COMPUTER-ASSISTED LASER DENSITOMETRY/, American journal of medical genetics, 75(2), 1998, pp. 171-175
MONOZYGOTIC TWINS WITH 45,X 46,XY MOSAICISM DISCORDANT FOR PHENOTYPICSEX/
Authors: COSTA T LAMBERT M TESHIMA I RAY PN RICHER CL DALLAIRE L
Citation: T. Costa et al., MONOZYGOTIC TWINS WITH 45,X 46,XY MOSAICISM DISCORDANT FOR PHENOTYPICSEX/, American journal of medical genetics, 75(1), 1998, pp. 40-44
CONGENITAL CYTOPLASMIC BODY MYOPATHY WITH SURVIVAL MOTOR-NEURON GENE DELETION OR WERDNIG-HOFFMANN-DISEASE
Authors: VAJSAR J BALSLEV T RAY PN SIEGELBARTELT J JAY V
Citation: J. Vajsar et al., CONGENITAL CYTOPLASMIC BODY MYOPATHY WITH SURVIVAL MOTOR-NEURON GENE DELETION OR WERDNIG-HOFFMANN-DISEASE, Neurology, 51(3), 1998, pp. 873-875
A MUSCLE-SPECIFIC ENHANCER WITHIN INTRON-1 OF THE HUMAN DYSTROPHIN GENE IS FUNCTIONALLY DEPENDENT ON SINGLE MEF-1 E BOX AND MEF-2/AT-RICH SEQUENCE MOTIFS/
Authors: KLAMUT HJ BOSNOYANCOLLINS LO WORTON RG RAY PN
Citation: Hj. Klamut et al., A MUSCLE-SPECIFIC ENHANCER WITHIN INTRON-1 OF THE HUMAN DYSTROPHIN GENE IS FUNCTIONALLY DEPENDENT ON SINGLE MEF-1 E BOX AND MEF-2/AT-RICH SEQUENCE MOTIFS/, Nucleic acids research, 25(8), 1997, pp. 1618-1625
MONOZYGOTIC TWINS DISCORDANT FOR AICARDI-SYNDROME
Authors: COSTA T GREER W RYSIECKI G BUNCIC JR RAY PN
Citation: T. Costa et al., MONOZYGOTIC TWINS DISCORDANT FOR AICARDI-SYNDROME, Journal of Medical Genetics, 34(8), 1997, pp. 688-691
PCR-BASED TEST FOR 2 CYSTIC-FIBROSIS MUTATIONS (A455E, 711-]T) COMMONAMONG FRENCH-CANADIANS(1G)
Authors: STANSBERG PM NOREAU D MCGLYNNSTEELE L KOULTCHITSKI G RAY PN
Citation: Pm. Stansberg et al., PCR-BASED TEST FOR 2 CYSTIC-FIBROSIS MUTATIONS (A455E, 711-]T) COMMONAMONG FRENCH-CANADIANS(1G), Clinical chemistry, 43(6), 1997, pp. 1083-1084
ACHONDROPLASIA-HYPOCHONDROPLASIA COMPLEX IN A NEWBORN
Authors: HUGGINS MJ SMITH JR CHUN K RAY PN SHAH JK WHELAN DT
Citation: Mj. Huggins et al., ACHONDROPLASIA-HYPOCHONDROPLASIA COMPLEX IN A NEWBORN, American journal of human genetics, 61(4), 1997, pp. 566-566
VITAMIN-D-RECEPTOR (VDR), ESTROGEN RECEPTOR-ALPHA (ER) AND COLLAGEN IA1 (COLIA1) POLYMORPHISMS AND PEAK BONE MASS
Authors: PATEL MS COLE DEC PELTEKOVA V KAMEH H VIETH H RAY PN BLANCHARD W HAWKER GA RUBIN LA
Citation: Ms. Patel et al., VITAMIN-D-RECEPTOR (VDR), ESTROGEN RECEPTOR-ALPHA (ER) AND COLLAGEN IA1 (COLIA1) POLYMORPHISMS AND PEAK BONE MASS, American journal of human genetics, 61(4), 1997, pp. 1692-1692
AN AUTOSOMAL-DOMINANT FORM OF ANTLEY-BIXLER-SYNDROME IS CAUSED BY A UNIQUE MUTATION IN FGFR2
Authors: CHUN K SIEGELBARTELT J CHITAYAT D PHILLIPS J RAY PN
Citation: K. Chun et al., AN AUTOSOMAL-DOMINANT FORM OF ANTLEY-BIXLER-SYNDROME IS CAUSED BY A UNIQUE MUTATION IN FGFR2, American journal of human genetics, 61(4), 1997, pp. 1921-1921
A UNIQUE MUTATION IN TWIST CAUSES SAETHRE-CHOTZEN-SYNDROME
Authors: RAY PN SIEGELBARTELT J CHUN K
Citation: Pn. Ray et al., A UNIQUE MUTATION IN TWIST CAUSES SAETHRE-CHOTZEN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2018-2018
RAPID CHARACTERIZATION OF BOTH THE VARIABLE-LENGTH-5, VARIABLE-LENGTH-7, OR VARIABLE-LENGTH-9 POLYTHYMIDINE (T) TRACT IN INTRON 8 AND THE ADJACENT CA REPEAT UNIT OF THE CFTR GENE - USE IN DNA DIAGNOSTICS
Authors: STRASBERG PM FRIEDMAN KJ MCGLYNNSTEELE L ZIELENSKI J RAY PN
Citation: Pm. Strasberg et al., RAPID CHARACTERIZATION OF BOTH THE VARIABLE-LENGTH-5, VARIABLE-LENGTH-7, OR VARIABLE-LENGTH-9 POLYTHYMIDINE (T) TRACT IN INTRON 8 AND THE ADJACENT CA REPEAT UNIT OF THE CFTR GENE - USE IN DNA DIAGNOSTICS, American journal of human genetics, 61(4), 1997, pp. 2038-2038
IDENTIFICATION OF PROXIMAL SPINAL MUSCULAR-ATROPHY CARRIERS AND PATIENTS BY ANALYSIS OF SMNT AND SMNC GENE COPY NUMBER
Authors: MCANDREW PE PARSONS DW SIMARD LR ROCHETTE C RAY PN MENDELL JR PRIOR TW BURGHES AHM
Citation: Pe. Mcandrew et al., IDENTIFICATION OF PROXIMAL SPINAL MUSCULAR-ATROPHY CARRIERS AND PATIENTS BY ANALYSIS OF SMNT AND SMNC GENE COPY NUMBER, American journal of human genetics, 60(6), 1997, pp. 1411-1422
EXPRESSION OF THE DYSTROPHIN ISOFORM DP71 IN DIFFERENTIATING HUMAN FETAL MYOGENIC CULTURES
Authors: TENNYSON CN DALLY GY RAY PN WORTON RG
Citation: Cn. Tennyson et al., EXPRESSION OF THE DYSTROPHIN ISOFORM DP71 IN DIFFERENTIATING HUMAN FETAL MYOGENIC CULTURES, Human molecular genetics, 5(10), 1996, pp. 1559-1566
IDENTIFICATION OF A TRANSCRIPTIONAL ENHANCER WITHIN MUSCLE INTRON-1 OF THE HUMAN DYSTROPHIN GENE
Authors: KLAMUT HJ BOSNOYANCOLLINS LO WORTON RG RAY PN DAVIS HL
Citation: Hj. Klamut et al., IDENTIFICATION OF A TRANSCRIPTIONAL ENHANCER WITHIN MUSCLE INTRON-1 OF THE HUMAN DYSTROPHIN GENE, Human molecular genetics, 5(10), 1996, pp. 1599-1606
TISSUE-SPECIFIC METHYLATION DIFFERENCES AND COGNITIVE FUNCTION IN FRAGILE-X PREMUTATION FEMALES
Authors: ALLINGHAMHAWKINS DJ BROWN CA BABUL R CHITAYAT D KREKEWICH K HUMPHRIES T RAY PN TESHIMA IE
Citation: Dj. Allinghamhawkins et al., TISSUE-SPECIFIC METHYLATION DIFFERENCES AND COGNITIVE FUNCTION IN FRAGILE-X PREMUTATION FEMALES, American journal of medical genetics, 64(2), 1996, pp. 329-333
X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA - A CLINICAL, RADIOLOGICAL, ANDMOLECULAR STUDY OF A LARGE KINDRED
Authors: MACKENZIE JJ FITZPATRICK J BABYN P FERRERO GB BALLABIO A BILLINGSLEY G BULMAN DE STRASBERG P RAY PN COSTA T
Citation: Jj. Mackenzie et al., X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA - A CLINICAL, RADIOLOGICAL, ANDMOLECULAR STUDY OF A LARGE KINDRED, Journal of Medical Genetics, 33(10), 1996, pp. 823-828
CLONING AND CHARACTERIZATION OF ALTERNATIVELY SPLICED ISOFORMS OF DP71
Authors: AUSTIN RC HOWARD PL DSOUZA VN KLAMUT HJ RAY PN
Citation: Rc. Austin et al., CLONING AND CHARACTERIZATION OF ALTERNATIVELY SPLICED ISOFORMS OF DP71, Human molecular genetics, 4(9), 1995, pp. 1475-1483
A NOVEL DYSTROPHIN ISOFORM IS REQUIRED FOR NORMAL RETINAL ELECTROPHYSIOLOGY
Authors: DSOUZA VN MAN NT MORRIS GE KARGES W PILLERS DAM RAY PN
Citation: Vn. Dsouza et al., A NOVEL DYSTROPHIN ISOFORM IS REQUIRED FOR NORMAL RETINAL ELECTROPHYSIOLOGY, Human molecular genetics, 4(5), 1995, pp. 837-842
A NOVEL MUTATION IN THE NORRIE DISEASE GENE PREDICTED TO DISRUPT THE CYSTINE KNOT GROWTH-FACTOR MOTIF
Authors: STRASBERG P LIEDE HA STEIN T WARREN I SUTHERLAND J RAY PN
Citation: P. Strasberg et al., A NOVEL MUTATION IN THE NORRIE DISEASE GENE PREDICTED TO DISRUPT THE CYSTINE KNOT GROWTH-FACTOR MOTIF, Human molecular genetics, 4(11), 1995, pp. 2179-2180
DISSECTION OF AN ABNORMAL ELECTRORETINOGRAM (ERG) PHENOTYPE USING MUSCULAR-DYSTROPHY MOUSE MODELS WITH DIFFERING DYSTROPHIN MUTATIONS
Authors: PILLERS DM GREEN DG WOODWARD WR CHAPMAN VM DSOUZA VN RAY PN WELEBER RG
Citation: Dm. Pillers et al., DISSECTION OF AN ABNORMAL ELECTRORETINOGRAM (ERG) PHENOTYPE USING MUSCULAR-DYSTROPHY MOUSE MODELS WITH DIFFERING DYSTROPHIN MUTATIONS, Investigative ophthalmology & visual science, 36(4), 1995, pp. 926-926
MDX(CV3) MOUSE IS A MODEL FOR ELECTRORETINOGRAPHY OF DUCHENNE-BECKER MUSCULAR-DYSTROPHY
Authors: PILLERS DAM WELEBER RG WOODWARD WR GREEN DG CHAPMAN VM RAY PN
Citation: Dam. Pillers et al., MDX(CV3) MOUSE IS A MODEL FOR ELECTRORETINOGRAPHY OF DUCHENNE-BECKER MUSCULAR-DYSTROPHY, Investigative ophthalmology & visual science, 36(2), 1995, pp. 462-466
A NOVEL CARDIO-SPECIFIC DYSTROPHIN MUTATION AS A CAUSE OF X-LINKED DILATED CARDIOMYOPATHY (XLCM)
Authors: TOWBIN JA ORTIZLOPEZ R BULMAN D RAY PN FRANZ WM KATUS H SWIFT M GELB B
Citation: Ja. Towbin et al., A NOVEL CARDIO-SPECIFIC DYSTROPHIN MUTATION AS A CAUSE OF X-LINKED DILATED CARDIOMYOPATHY (XLCM), Pediatric research, 37(4), 1995, pp. 36-36
Risultati: 1-25 | 26-43