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Results: 1-18 |
Results: 18
MUTATIONS IN THE DELTA(1)-PYRROLINE 5-CARBOXYLATE DEHYDROGENASE GENE CAUSE TYPE-II HYPERPROLINEMIA
Authors: GERAGHTY MT VAUGHN D NICHOLSON AJ LIN WW JIMENEZSANCHEZ G OBIE C FLYNN MP VALLE D HU CAA
Citation: Mt. Geraghty et al., MUTATIONS IN THE DELTA(1)-PYRROLINE 5-CARBOXYLATE DEHYDROGENASE GENE CAUSE TYPE-II HYPERPROLINEMIA, Human molecular genetics (Print), 7(9), 1998, pp. 1411-1415
SUPPRESSION OF PEROXISOMAL MEMBRANE-PROTEIN DEFECTS BY PEROXISOMAL ATP BINDING CASSETTE (ABC) PROTEINS
Authors: BRAITERMAN LT ZHENG SQ WATKINS PA GERAGHTY MT JOHNSON G MCGUINNESS MC MOSER AB SMITH KD
Citation: Lt. Braiterman et al., SUPPRESSION OF PEROXISOMAL MEMBRANE-PROTEIN DEFECTS BY PEROXISOMAL ATP BINDING CASSETTE (ABC) PROTEINS, Human molecular genetics, 7(2), 1998, pp. 239-247
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
DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE
Authors: ARCH EM GOODMAN BK VANWESEP RA LIAW D CLARKE K PARSONS R MCKUSICK VA GERAGHTY MT
Citation: Em. Arch et al., DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE, American journal of medical genetics, 71(4), 1997, pp. 489-493
A MALE CHILD WITH THE RUMPSHAKER MUTATION, X-LINKED SPASTIC PARAPLEGIA PELIZAEUS-MERZBACHER DISEASE AND LYSINURIA
Authors: NAIDU S DLOUHY SR GERAGHTY MT HODES ME
Citation: S. Naidu et al., A MALE CHILD WITH THE RUMPSHAKER MUTATION, X-LINKED SPASTIC PARAPLEGIA PELIZAEUS-MERZBACHER DISEASE AND LYSINURIA, Journal of inherited metabolic disease, 20(6), 1997, pp. 811-816
WHOLE GENOME ANALYSIS IN SACCHAROMYCES-CEREVISIAE TO IDENTIFY PEROXISOMAL GENES
Authors: GERAGHTY MT BASSETT DE HIETER P GOULD S
Citation: Mt. Geraghty et al., WHOLE GENOME ANALYSIS IN SACCHAROMYCES-CEREVISIAE TO IDENTIFY PEROXISOMAL GENES, American journal of human genetics, 61(4), 1997, pp. 194-194
DELETION OF 10Q23.2-Q24.1 INCLUDING PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE
Authors: ARCH EM GOODMAN BK LIAW D PARSONS R VANWESEP RA CLARKE K MCKUSICK VA GERAGHTY MT
Citation: Em. Arch et al., DELETION OF 10Q23.2-Q24.1 INCLUDING PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 663-663
DUPLICATION XQ27-QTER AT XP22.3 IN A SEVERELY AFFECTED CHILD AND HIS PHENOTYPICALLY NORMAL MOTHER
Authors: GOODMAN BK LEPPERT M HARUM K RUTBERG J THOMAS GH GERAGHTY MT
Citation: Bk. Goodman et al., DUPLICATION XQ27-QTER AT XP22.3 IN A SEVERELY AFFECTED CHILD AND HIS PHENOTYPICALLY NORMAL MOTHER, American journal of human genetics, 61(4), 1997, pp. 717-717
MANAGEMENT AND OUTCOME OF MATERNAL PKU
Authors: RUTBERG J KOERNER C COOPER LF WESSEL K GERAGHTY MT
Citation: J. Rutberg et al., MANAGEMENT AND OUTCOME OF MATERNAL PKU, American journal of human genetics, 61(4), 1997, pp. 1515-1515
COMPARISON OF DIAGNOSTIC METHODS IN A PATIENT WITH MCAD DEFICIENCY
Authors: WRIGHT MJ ARCH EM MILLINGTON D RUTBERG J GERAGHTY MT
Citation: Mj. Wright et al., COMPARISON OF DIAGNOSTIC METHODS IN A PATIENT WITH MCAD DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1535-1535
WHOLE GENOME SCREEN FOR PEROXISOMAL PROTEINS IN SACCHAROMYCES-CEREVISIAE
Authors: GERAGHTY MT BASSETT DE HIETER P GOULD SJ
Citation: Mt. Geraghty et al., WHOLE GENOME SCREEN FOR PEROXISOMAL PROTEINS IN SACCHAROMYCES-CEREVISIAE, Molecular biology of the cell, 7, 1996, pp. 2876-2876
MOLECULAR-CLONING OF THE SYNOVIAL SARCOMA-SPECIFIC TRANSLOCATION (X18)(P11.2Q11.2) BREAKPOINT
Authors: DELEEUW B BALEMANS M WEGHUIS DO SERUCA R JANZ M GERAGHTY MT GILGENKRANTZ S ROPERS HH VANKESSEL AG
Citation: B. Deleeuw et al., MOLECULAR-CLONING OF THE SYNOVIAL SARCOMA-SPECIFIC TRANSLOCATION (X18)(P11.2Q11.2) BREAKPOINT, Human molecular genetics, 3(5), 1994, pp. 745-749
CHARACTERIZATION OF A CYSTATHIONINE BETA-SYNTHASE ALLELE WITH 3 MUTATIONS IN CIS IN A PATIENT WITH B-6 NONRESPONSIVE HOMOCYSTINURIA
Authors: MARBLE M GERAGHTY MT DEFRANCHIS R KRAUS JP VALLE D
Citation: M. Marble et al., CHARACTERIZATION OF A CYSTATHIONINE BETA-SYNTHASE ALLELE WITH 3 MUTATIONS IN CIS IN A PATIENT WITH B-6 NONRESPONSIVE HOMOCYSTINURIA, Human molecular genetics, 3(10), 1994, pp. 1883-1886
MOLECULAR-CLONING OF THE SYNOVIAL SARCOMA-SPECIFIC TRANSLOCATION (X18)(P11.2Q11.2) BREAKPOINT
Authors: DELEEUW B BALEMANS M WEGHUIS DO GERAGHTY MT GILGENKRANTZ S ROPERS HH VANKESSEL AG
Citation: B. Deleeuw et al., MOLECULAR-CLONING OF THE SYNOVIAL SARCOMA-SPECIFIC TRANSLOCATION (X18)(P11.2Q11.2) BREAKPOINT, Cytogenetics and cell genetics, 67(4), 1994, pp. 350-350
ISOLATION AND CHARACTERIZATION OF AN ORNITHINE AMINOTRANSFERASE-RELATED SEQUENCE (OATL3) MAPPING TO 10Q26
Authors: GERAGHTY MT KEARNS WG PEARSON PL VALLE D
Citation: Mt. Geraghty et al., ISOLATION AND CHARACTERIZATION OF AN ORNITHINE AMINOTRANSFERASE-RELATED SEQUENCE (OATL3) MAPPING TO 10Q26, Genomics, 17(2), 1993, pp. 510-513
THE ISOLATION OF CDNAS FROM OATL1 AT XP11.2 USING A 480-KB YAC
Authors: GERAGHTY MT BRODY LC MARTIN LS MARBLE M KEARNS W PEARSON P MONACO AP LEHRACH H VALLE D
Citation: Mt. Geraghty et al., THE ISOLATION OF CDNAS FROM OATL1 AT XP11.2 USING A 480-KB YAC, Genomics, 16(2), 1993, pp. 440-446
IDENTIFICATION OF A YEAST ARTIFICIAL CHROMOSOME THAT SPANS THE HUMAN PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED T(X1) BREAKPOINT IN XP11.2
Authors: SUIJKERBUIJK RF MELONI AM SINKE RJ DELEEUW B WILBRINK M JANSSEN HAP GERAGHTY MT MONACO AP SANDBERG AA VANKESSEL AG
Citation: Rf. Suijkerbuijk et al., IDENTIFICATION OF A YEAST ARTIFICIAL CHROMOSOME THAT SPANS THE HUMAN PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED T(X1) BREAKPOINT IN XP11.2, Cancer genetics and cytogenetics, 71(2), 1993, pp. 164-169
A CYSTATHIONINE BETA-SYNTHASE (CBS) ALLELE WITH 3 MUTATIONS IN CIS INA P ATIENT WITH B6-NONRESPONSIVE HOMOCYSTINURIA
Authors: MARBLE M GERAGHTY MT DEFRANCHIS R KRAUS J VALLE D
Citation: M. Marble et al., A CYSTATHIONINE BETA-SYNTHASE (CBS) ALLELE WITH 3 MUTATIONS IN CIS INA P ATIENT WITH B6-NONRESPONSIVE HOMOCYSTINURIA, American journal of human genetics, 53(3), 1993, pp. 925-925
Risultati: 1-18 |