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Results: 1-17 |
Results: 17
NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME
Authors: VARON R VISSINGA C PLATZER M CEROSALETTI KM CHRZANOWSKA KH SAAR K BECKMANN G SEEMANOVA E COOPER PR NOWAK NJ STUMM M WEEMAES CMR GATTI RA WILSON RK DIGWEED M ROSENTHAL A SPERLING K CONCANNON P REIS A
Citation: R. Varon et al., NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME, Cell, 93(3), 1998, pp. 467-476
AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS IS ASSOCIATED IN 3 FAMILIES WITH HETEROZYGOSITY FOR THE R589H MUTATION IN THE AE1 (BAND-3)CL- HCO3- EXCHANGER/
Authors: JAROLIM P SHAYAKUL C PRABAKARAN D JIANG LW STUARTTILLEY A RUBIN HL SIMOVA S ZAVADIL J HERRIN JT BROUILLETTE J SOMERS MJG SEEMANOVA E BRUGNARA C GUAYWOODFORD LM ALPER SL
Citation: P. Jarolim et al., AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS IS ASSOCIATED IN 3 FAMILIES WITH HETEROZYGOSITY FOR THE R589H MUTATION IN THE AE1 (BAND-3)CL- HCO3- EXCHANGER/, The Journal of biological chemistry, 273(11), 1998, pp. 6380-6388
2 LI-FRAUMENI-SYNDROME FAMILIES WITH NOVEL GERMLINE P53 MUTATIONS - LOSS OF THE WILD-TYPE P53 ALLELE IN ONLY 50-PERCENT OF TUMORS
Authors: SEDLACEK Z KODET R KRIZ V SEEMANOVA E VODVARKA P WILGENBUS P MARES J POUSTKA A GOETZ P
Citation: Z. Sedlacek et al., 2 LI-FRAUMENI-SYNDROME FAMILIES WITH NOVEL GERMLINE P53 MUTATIONS - LOSS OF THE WILD-TYPE P53 ALLELE IN ONLY 50-PERCENT OF TUMORS, British Journal of Cancer, 77(7), 1998, pp. 1034-1039
A HETEROZYGOUS MISSENSE MUTATION IN THE AE1 CL- HCO3- EXCHANGER GENE COSEGREGATES WITH AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IN 2 UNRELATED FAMILIES/
Authors: ALPER SL GUAYWOODFORD LM PRABAKARAN D BROUILLETTE J SOMERS MJG HERRIN JT SEEMANOVA E BRUGNARA C JAROLIM P
Citation: Sl. Alper et al., A HETEROZYGOUS MISSENSE MUTATION IN THE AE1 CL- HCO3- EXCHANGER GENE COSEGREGATES WITH AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA) IN 2 UNRELATED FAMILIES/, Journal of the American Society of Nephrology, 8, 1997, pp. 1785-1785
SUBSTITUTION 589-ARG-]HIS IN ERYTHROID BAND-3 (AE1) CAUSES OR CONTRIBUTES TO AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA)
Authors: JAROLIM P SHAYAKUL C PRABAKARAN D JIANG L STUARTTILLEY A HERRIN JT SOMERS MJG SEEMANOVA E SIMOVA S BROUILLETTE J GUAYWOODFORD LM BRUGNARA C ALPER SL
Citation: P. Jarolim et al., SUBSTITUTION 589-ARG-]HIS IN ERYTHROID BAND-3 (AE1) CAUSES OR CONTRIBUTES TO AUTOSOMAL-DOMINANT DISTAL RENAL TUBULAR-ACIDOSIS (DRTA), Blood, 90(10), 1997, pp. 1185-1185
DEFECTS OF INSULIN AND IGF-1 ACTION AT RECEPTOR AND POSTRECEPTOR LEVEL IN A PATIENT WITH TYPE-A SYNDROME OF INSULIN-RESISTANCE
Authors: KNEBEL B KELLNER S KOTZKA J SIEMEISTER G DREYER M STREICHER R SCHILLER M RUDIGER HW SEEMANOVA E KRONE W MULLERWIELAND D
Citation: B. Knebel et al., DEFECTS OF INSULIN AND IGF-1 ACTION AT RECEPTOR AND POSTRECEPTOR LEVEL IN A PATIENT WITH TYPE-A SYNDROME OF INSULIN-RESISTANCE, Biochemical and biophysical research communications, 234(3), 1997, pp. 626-630
THE GENE FOR THE ATAXIA-TELANGIECTASIA VARIANT, NIJMEGEN BREAKAGE SYNDROME, MAPS TO A 1-CM INTERVAL ON CHROMOSOME 8Q21
Authors: SAAR K CHRZANOWSKA KH STUMM M JUNG M NURNBERG G WIENKER TF SEEMANOVA E WEGNER RD REIS A SPERLING K
Citation: K. Saar et al., THE GENE FOR THE ATAXIA-TELANGIECTASIA VARIANT, NIJMEGEN BREAKAGE SYNDROME, MAPS TO A 1-CM INTERVAL ON CHROMOSOME 8Q21, American journal of human genetics, 60(3), 1997, pp. 605-610
X-LINKED MICROCEPHALY, MICROPHTHALMIA, MICROCORNEA, CONGENITAL CATARACT, HYPOGENITALISM, MENTAL DEFICIENCY, GROWTH-RETARDATION, SPASTICITY - POSSIBLE NEW SYNDROME
Authors: SEEMANOVA E LESNY I
Citation: E. Seemanova et I. Lesny, X-LINKED MICROCEPHALY, MICROPHTHALMIA, MICROCORNEA, CONGENITAL CATARACT, HYPOGENITALISM, MENTAL DEFICIENCY, GROWTH-RETARDATION, SPASTICITY - POSSIBLE NEW SYNDROME, American journal of medical genetics, 66(2), 1996, pp. 179-183
FRAGILE-X SYNDROME IN INCESTUOUS FAMILIES
Authors: SEEMANOVA E
Citation: E. Seemanova, FRAGILE-X SYNDROME IN INCESTUOUS FAMILIES, American journal of medical genetics, 65(4), 1996, pp. 355-356
MOLECULAR ANALYSIS OF CHROMOSOME-21 IN A PATIENT WITH A PHENOTYPE OF DOWN-SYNDROME AND APPARENTLY NORMAL KARYOTYPE
Authors: AHLBOM BE GOETZ P KORENBERG JR PETTERSSON U SEEMANOVA E WADELIUS C ZECH L ANNEREN G
Citation: Be. Ahlbom et al., MOLECULAR ANALYSIS OF CHROMOSOME-21 IN A PATIENT WITH A PHENOTYPE OF DOWN-SYNDROME AND APPARENTLY NORMAL KARYOTYPE, American journal of medical genetics, 63(4), 1996, pp. 566-572
NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - ERRATUM
Authors: AMOS C STEIN J MULLIKEN JB STAL S MALCOLM S WINTER R BLANTON SH SEEMANOVA E GASSER DL HECHT JT
Citation: C. Amos et al., NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - ERRATUM, American journal of human genetics, 59(3), 1996, pp. 744-744
BCL3 IS LINKED TO NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE
Authors: STEIN J MULLIKEN JB STAL S GASSER DL MALCOLM S WINTER R BLANTON SH AMOS C SEEMANOVA E HECHT JT
Citation: J. Stein et al., BCL3 IS LINKED TO NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE, American journal of human genetics, 57(4), 1995, pp. 183-183
THE ATAXIA-TELANGIECTASIA-VARIANT GENE-1 AND GENE-2 ARE DISTINCT FROMTHE ATAXIA-TELANGIECTASIA GENE ON CHROMOSOME-11Q23.1
Authors: STUMM M GATTI RA REIS A UDAR N CHRZANOWSKA K SEEMANOVA E SPERLING K WEGNER RD
Citation: M. Stumm et al., THE ATAXIA-TELANGIECTASIA-VARIANT GENE-1 AND GENE-2 ARE DISTINCT FROMTHE ATAXIA-TELANGIECTASIA GENE ON CHROMOSOME-11Q23.1, American journal of human genetics, 57(4), 1995, pp. 960-962
NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - EVIDENCE OF LINKAGE TO BCL3 IN 17 MULTIGENERATIONAL FAMILIES
Authors: STEIN J MULLIKEN JB STAL S GASSER DL MALCOLM S WINTER R BLANTON SH AMOS C SEEMANOVA E HECHT JT
Citation: J. Stein et al., NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - EVIDENCE OF LINKAGE TO BCL3 IN 17 MULTIGENERATIONAL FAMILIES, American journal of human genetics, 57(2), 1995, pp. 257-272
PAX3 GENE STRUCTURE AND MUTATIONS - CLOSE ANALOGIES BETWEEN WAARDENBURG SYNDROME AND THE SPLOTCH MOUSE
Authors: TASSABEHJI M NEWTON VE LEVERTON K TURNBULL K SEEMANOVA E KUNZE J SPERLING K STRACHAN T READ AP
Citation: M. Tassabehji et al., PAX3 GENE STRUCTURE AND MUTATIONS - CLOSE ANALOGIES BETWEEN WAARDENBURG SYNDROME AND THE SPLOTCH MOUSE, Human molecular genetics, 3(7), 1994, pp. 1069-1074
SELECTIVE POSTRECEPTOR DEFECT OF INSULIN AND IGF-I ON C-FOS-INDUCTIONIN A PATIENT WITH CONGENITAL LIPOATROPHY
Authors: KNEBEL B SIEMEISTER G KELTNER S SCHILLER M STREICHER R KRONE W MAASSEN JA DREYER M SEEMANOVA E MULLERWIELAND D
Citation: B. Knebel et al., SELECTIVE POSTRECEPTOR DEFECT OF INSULIN AND IGF-I ON C-FOS-INDUCTIONIN A PATIENT WITH CONGENITAL LIPOATROPHY, Diabetologia, 37, 1994, pp. 10000010-10000010
AN IN-FRAME INSERTION IN EXON-3 AND A NONSENSE MUTATION IN EXON-2 OF THE INSULIN-RECEPTOR GENE ASSOCIATED WITH SEVERE INSULIN-RESISTANCE INA PATIENT WITH RABSON-MENDENHALL SYNDROME
Authors: MULLERWIELAND D VANDERVORM ER STREICHER R KRONE W SEEMANOVA E DREYER M RUDIGER HW ROSIPAL SR MAASSEN JA
Citation: D. Mullerwieland et al., AN IN-FRAME INSERTION IN EXON-3 AND A NONSENSE MUTATION IN EXON-2 OF THE INSULIN-RECEPTOR GENE ASSOCIATED WITH SEVERE INSULIN-RESISTANCE INA PATIENT WITH RABSON-MENDENHALL SYNDROME, Diabetologia, 36(11), 1993, pp. 1168-1174
Risultati: 1-17 |