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Results: 1-10 |
Results: 10
THE GAP-RELATED DOMAIN OF TUBERIN, THE PRODUCT OF THE TSC2 GENE, IS ATARGET FOR MISSENSE MUTATIONS IN TUBEROUS SCLEROSIS
Authors: MAHESHWAR MM CHEADLE JP JONES AC MYRING J FRYER AE HARRIS PC SAMPSON JR
Citation: Mm. Maheshwar et al., THE GAP-RELATED DOMAIN OF TUBERIN, THE PRODUCT OF THE TSC2 GENE, IS ATARGET FOR MISSENSE MUTATIONS IN TUBEROUS SCLEROSIS, Human molecular genetics, 6(11), 1997, pp. 1991-1996
THE ROLE OF FISH IN INVESTIGATING DELETIONS OF THE TSC2 AND PKD1 GENEREGION AT CHROMOSOME 16P13.3
Authors: THOMPSON PW SAMPSON JR MAHESHWAR MM ASPINWALL P CHEADLE J RAVINE D ROY S HAAN E BERNSTEIN J HARRIS PC
Citation: Pw. Thompson et al., THE ROLE OF FISH IN INVESTIGATING DELETIONS OF THE TSC2 AND PKD1 GENEREGION AT CHROMOSOME 16P13.3, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 11-11
RENAL CYSTIC-DISEASE IN TUBEROUS SCLEROSIS - ROLE OF THE POLYCYSTIC KIDNEY-DISEASE-1 GENE
Authors: SAMPSON JR MAHESHWAR MM ASPINWALL R THOMPSON P CHEADLE JP RAVINE D ROY S HAAN E BERNSTEIN J HARRIS PC
Citation: Jr. Sampson et al., RENAL CYSTIC-DISEASE IN TUBEROUS SCLEROSIS - ROLE OF THE POLYCYSTIC KIDNEY-DISEASE-1 GENE, American journal of human genetics, 61(4), 1997, pp. 843-851
COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH (VOL 5, PG 131, 1996)
Authors: MAHESHWAR MM SANDFORD R NELLIST M CHEADLE JP SGOTTO B VAUDIN M SAMPSON JR
Citation: Mm. Maheshwar et al., COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH (VOL 5, PG 131, 1996), Human molecular genetics, 5(4), 1996, pp. 562-562
COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH
Authors: MAHESHWAR MM SANDFORD R NELLIST M CHEADLE JP SGOTTO B VAUDIN M SAMPSON JR
Citation: Mm. Maheshwar et al., COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH, Human molecular genetics, 5(1), 1996, pp. 131-137
IDENTIFICATION OF A NONSENSE MUTATION AT THE 5'-END OF THE TSC2 GENE IN A FAMILY WITH A PRESUMPTIVE DIAGNOSIS OF TUBEROUS SCLEROSIS COMPLEX
Authors: VRTEL R VERHOEF S BOUMAN K MAHESHWAR MM NELLIST M VANESSEN AJ BAKKER PLG HERMANS CJ BINKBOELKENS MTE VANELBURG RM HOFF M LINDHOUT D SAMPSON J HALLEY DJJ VANDENOUWELAND AMW
Citation: R. Vrtel et al., IDENTIFICATION OF A NONSENSE MUTATION AT THE 5'-END OF THE TSC2 GENE IN A FAMILY WITH A PRESUMPTIVE DIAGNOSIS OF TUBEROUS SCLEROSIS COMPLEX, Journal of Medical Genetics, 33(1), 1996, pp. 47-51
ALTERNATIVE SPLICING OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE IN HUMANAND MOUSE-TISSUES
Authors: XU L STERNER C MAHESHWAR MM WILSON PJ NELLIST M SHORT PM HAINES JL SAMPSON JR RAMESH V
Citation: L. Xu et al., ALTERNATIVE SPLICING OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE IN HUMANAND MOUSE-TISSUES, Genomics, 27(3), 1995, pp. 475-480
DELETION OF THE TSC2 AND PKD1 GENES ASSOCIATED WITH SEVERE INFANTILE POLYCYSTIC KIDNEY-DISEASE - A CONTIGUOUS GENE SYNDROME
Authors: BROOKCARTER PT PERAL B WARD CJ THOMPSON P HUGHES J MAHESHWAR MM NELLIST M GAMBLE V HARRIS PC SAMPSON JR
Citation: Pt. Brookcarter et al., DELETION OF THE TSC2 AND PKD1 GENES ASSOCIATED WITH SEVERE INFANTILE POLYCYSTIC KIDNEY-DISEASE - A CONTIGUOUS GENE SYNDROME, Nature genetics, 8(4), 1994, pp. 328-332
THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16
Authors: WARD CJ PERAL B HUGHES J THOMAS S GAMBLE V MACCARTHY AB SLOANESTANLEY J BUCKLE VJ KEARNEY L HIGGS DR RATCLIFFE PJ HARRIS PC ROELFSEMA JH SPRUIT L SARIS JJ DAUWERSE HG PETERS DJM BREUNING MH NELLIST M BROOKCARTER PT MAHESHWAR MM CORDEIRO I SANTOS H CABRAL P SAMPSON JR JANSSEN B HESSELINGJANSSEN ALW VANDENOUWELAND AMW EUSSEN B VERHOEF S LINDHOUT D HALLEY DJJ
Citation: Cj. Ward et al., THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16, Cell, 77(6), 1994, pp. 881-894
IDENTIFICATION AND CHARACTERIZATION OF THE TUBEROUS SCLEROSIS GENE ONCHROMOSOME-16
Authors: NELLIST M JANSSEN B BROOKCARTER PT HESSELINGJANSSEN ALW MAHESHWAR MM VERHOEF S VANDENOUWELAND AMW LINDHOUT D EUSSEN B CORDEIRO I SANTOS H HALLEY DJJ SAMPSON JR WARD CJ PERAL B THOMAS S HUGHES J HARRIS PC ROELFSEMA JH SARIS JJ SPRUIT L PETERS DJM DAUWERSE JG BREUNING MH
Citation: M. Nellist et al., IDENTIFICATION AND CHARACTERIZATION OF THE TUBEROUS SCLEROSIS GENE ONCHROMOSOME-16, Cell, 75(7), 1993, pp. 1305-1315
Risultati: 1-10 |