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Results: 1-11 |
Results: 11
URINARY-TRACT CANCER AND HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER - RISKS AND SCREENING OPTIONS
Authors: SIJMONS RH KIEMENEY LALM WITJES JA VASEN HFA
Citation: Rh. Sijmons et al., URINARY-TRACT CANCER AND HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER - RISKS AND SCREENING OPTIONS, The Journal of urology, 160(2), 1998, pp. 466-470
ONCOLOGICAL IMPLICATIONS OF RET GENE-MUTATIONS IN HIRSCHSPRUNGS-DISEASE
Authors: SIJMONS RH HOFSTRA RMW WIJBURG FA LINKS TP ZWIERSTRA RP VERMEY A ARONSON DC TANSINDHUNATA G BROUWERSSMALBRAAK GJ MAAS SM BUYS CHCM
Citation: Rh. Sijmons et al., ONCOLOGICAL IMPLICATIONS OF RET GENE-MUTATIONS IN HIRSCHSPRUNGS-DISEASE, Gut, 43(4), 1998, pp. 542-547
EARLY-ONSET RENAL-CELL CANCER AND BILATERAL EPIDIDYMAL CYSTS AS PRESENTING SYMPTOMS OF VON-HIPPEL-LANDAU-DISEASE
Authors: KROES HY SIJMONS RH VANDENBERG A VANDERHOUT AH
Citation: Hy. Kroes et al., EARLY-ONSET RENAL-CELL CANCER AND BILATERAL EPIDIDYMAL CYSTS AS PRESENTING SYMPTOMS OF VON-HIPPEL-LANDAU-DISEASE, British Journal of Urology, 81(6), 1998, pp. 915-915
GERMLINE MUTATIONS IN THE PTEN MMAC1 GENE IN PATIENTS WITH COWDEN-DISEASE/
Authors: NELEN MR VANSTAVEREN WCG PEETERS EAJ BENHASSEL M GORLIN RJ HAMM H LINDBOE CF FRYNS JP SIJMONS RH WOODS DG MARIMAN ECM PADBERG GW KREMER H
Citation: Mr. Nelen et al., GERMLINE MUTATIONS IN THE PTEN MMAC1 GENE IN PATIENTS WITH COWDEN-DISEASE/, Human molecular genetics, 6(8), 1997, pp. 1383-1387
RET MUTATION SCREENING IN FAMILIAL CUTANEOUS LICHEN AMYLOIDOSIS AND IN SKIN AMYLOIDOSIS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA
Authors: HOFSTRA RMW SIJMONS RH STELWAGEN T STULP RP KOUSSEFF BG LIPS CJM STEIJLEN PM VANVOORSTVADER PC BUYS CHCM
Citation: Rmw. Hofstra et al., RET MUTATION SCREENING IN FAMILIAL CUTANEOUS LICHEN AMYLOIDOSIS AND IN SKIN AMYLOIDOSIS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA, Journal of investigative dermatology, 107(2), 1996, pp. 215-218
PRENATAL-DIAGNOSIS IN 2 CASES OF DE-NOVO COMPLEX BALANCED CHROMOSOMALREARRANGEMENTS - 3-YEAR FOLLOW-UP IN ONE CASE
Authors: SIKKEMARADDATZ B SIJMONS RH TANSINDHUNATA MB VANDERVEEN AY BRUNSTING R DEVRIES B BEEKHUIS JR BEKEDAM DJ VANAKEN B DEJONG B
Citation: B. Sikkemaraddatz et al., PRENATAL-DIAGNOSIS IN 2 CASES OF DE-NOVO COMPLEX BALANCED CHROMOSOMALREARRANGEMENTS - 3-YEAR FOLLOW-UP IN ONE CASE, Prenatal diagnosis, 15(5), 1995, pp. 467-473
46,XY,DUP(10Q) IN DIRECT CVS PREPARATION AND MOSAIC 48,XXXY,DUP(10Q) IN CVS LONG-TERM CULTURE AND FETAL TISSUE
Authors: SIJMONS RH SIKKEMARADDATZ B KLOOSTERMAN MD BRIET JW DEJONG B LESCHOT NJ
Citation: Rh. Sijmons et al., 46,XY,DUP(10Q) IN DIRECT CVS PREPARATION AND MOSAIC 48,XXXY,DUP(10Q) IN CVS LONG-TERM CULTURE AND FETAL TISSUE, Prenatal diagnosis, 15(3), 1995, pp. 285-290
CONGENITAL KNEE DISLOCATION IN A 49,XXXXY BOY
Authors: SIJMONS RH VANESSEN AJ VISSER JD IPRENBURG M NELCK GF VOSBENDER ML DEJONG B
Citation: Rh. Sijmons et al., CONGENITAL KNEE DISLOCATION IN A 49,XXXXY BOY, Journal of Medical Genetics, 32(4), 1995, pp. 309-311
RELATIVELY MILD PHENOTYPE OF PARTIAL TRISOMY-13 (Q21.2-Q32), DUE TO FAMILIAL INSERTION (3-13), IN A 8-YEAR-OLD BOY
Authors: SIJMONS RH LEEGTE B VERSCHUURENBEMELMANS C VANDERVEEN AY DEJONG B
Citation: Rh. Sijmons et al., RELATIVELY MILD PHENOTYPE OF PARTIAL TRISOMY-13 (Q21.2-Q32), DUE TO FAMILIAL INSERTION (3-13), IN A 8-YEAR-OLD BOY, American journal of human genetics, 57(4), 1995, pp. 710-710
PIEBALDISM IN A MENTALLY-RETARDED GIRL WITH RARE DELETION OF THE LONGARM OF CHROMOSOME-4
Authors: SIJMONS RH KRISTOFFERSSON U TUERLINGS JHAM LJUNG R DIJKHUISSTOFFELSMA R BREED ASPM
Citation: Rh. Sijmons et al., PIEBALDISM IN A MENTALLY-RETARDED GIRL WITH RARE DELETION OF THE LONGARM OF CHROMOSOME-4, Pediatric dermatology, 10(3), 1993, pp. 235-239
TETRASOMY-5P MOSAICISM IN A BOY WITH DELAYED GROWTH, HYPOTONIA, MINORANOMALIES, AND AN ADDITIONAL ISOCHROMOSOME-5P [46,XY 47,XY,+I(5P)]/
Authors: SIJMONS RH LEEGTE B VANLINGEN RA DEPATER JM VANDERVEEN AY DELCANHO H BOS C TENKATE LP BREED ASPM
Citation: Rh. Sijmons et al., TETRASOMY-5P MOSAICISM IN A BOY WITH DELAYED GROWTH, HYPOTONIA, MINORANOMALIES, AND AN ADDITIONAL ISOCHROMOSOME-5P [46,XY 47,XY,+I(5P)]/, American journal of medical genetics, 47(4), 1993, pp. 559-562
Risultati: 1-11 |