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Results: 1-13 |
Results: 13
SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS AS A CAUSE FOR MENTAL-RETARDATION
Authors: HOOVERS JMN BIJLSMA EK SLUIJTER S HENNEKAM RCM
Citation: Jmn. Hoovers et al., SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS AS A CAUSE FOR MENTAL-RETARDATION, European journal of human genetics, 6, 1998, pp. 707-707
A G-]A TRANSITION CREATES A BRANCH POINT SEQUENCE AND ACTIVATION OF ACRYPTIC EXON, RESULTING IN THE HEREDITARY DISORDER NEUROFIBROMATOSIS-2
Authors: DEKLEIN A RIEGMAN PHJ BIJLSMA EK HELDOORN A MUIJTJENS M DENBAKKER MA AVEZAAT CJJ ZWARTHOFF EC
Citation: A. Deklein et al., A G-]A TRANSITION CREATES A BRANCH POINT SEQUENCE AND ACTIVATION OF ACRYPTIC EXON, RESULTING IN THE HEREDITARY DISORDER NEUROFIBROMATOSIS-2, Human molecular genetics, 7(3), 1998, pp. 393-398
MISLEADING LINKAGE RESULTS IN AN NF2 PRESYMPTOMATIC TEST OWING TO MOSAICISM
Authors: BIJLSMA EK WALLACE AJ EVANS DGR
Citation: Ek. Bijlsma et al., MISLEADING LINKAGE RESULTS IN AN NF2 PRESYMPTOMATIC TEST OWING TO MOSAICISM, Journal of Medical Genetics, 34(11), 1997, pp. 934-936
NEUROFIBROMATOSIS TYPE-2 IN AN ADOLESCENT BOY WITH POLYNEUROPATHY ANDA MUTATION IN THE NF2 GENE
Authors: OVERWEGPLANDSOEN WCG BROUWERMLADIN R MEREL P DEVRIES L BIJLSMA EK
Citation: Wcg. Overwegplandsoen et al., NEUROFIBROMATOSIS TYPE-2 IN AN ADOLESCENT BOY WITH POLYNEUROPATHY ANDA MUTATION IN THE NF2 GENE, Journal of neurology, 243(10), 1996, pp. 724-726
MOLECULAR ANALYSIS OF GENETIC CHANGES IN EPENDYMOMAS
Authors: BIJLSMA EK VOESTEN AMJ BIJLEVELD EH TROOST D WESTERVELD A MEREL P THOMAS G HULSEBOS TJM
Citation: Ek. Bijlsma et al., MOLECULAR ANALYSIS OF GENETIC CHANGES IN EPENDYMOMAS, Genes, chromosomes & cancer, 13(4), 1995, pp. 272-277
PREDOMINANT OCCURRENCE OF SOMATIC MUTATIONS OF THE NF2 GENE IN MENINGIOMAS AND SCHWANNOMAS
Authors: MEREL P HOANGXUAN K SANSON M MOREAUAUBRY A BIJLSMA EK LAZARO C MOISAN JP RESCHE F NISHISHO I ESTIVILL X DELATTRE JY POISSON M THEILLET C HULSEBOS T DELATTRE O THOMAS G
Citation: P. Merel et al., PREDOMINANT OCCURRENCE OF SOMATIC MUTATIONS OF THE NF2 GENE IN MENINGIOMAS AND SCHWANNOMAS, Genes, chromosomes & cancer, 13(3), 1995, pp. 211-216
FAMILY WITH NEUROFIBROMATOSIS TYPE-2 AND AUTOSOMAL-DOMINANT HEARING-LOSS - IDENTIFICATION OF CARRIERS OF THE MUTATED NF2 GENE
Authors: BIJLSMA EK MEREL P FLEURY P VANASPEREN CJ WESTERVELD A DELATTRE O THOMAS G HULSEBOS TJM
Citation: Ek. Bijlsma et al., FAMILY WITH NEUROFIBROMATOSIS TYPE-2 AND AUTOSOMAL-DOMINANT HEARING-LOSS - IDENTIFICATION OF CARRIERS OF THE MUTATED NF2 GENE, Human genetics, 96(1), 1995, pp. 1-5
SCREENING FOR GERMLINE MUTATIONS OF THE NF2 GENE
Authors: MEREL P HOANGXUAN K SANSON M BIJLSMA EK HULSEBOS TMJ DELATTRE O THOMAS G
Citation: P. Merel et al., SCREENING FOR GERMLINE MUTATIONS OF THE NF2 GENE, Neurology, 45(4), 1995, pp. 244-244
AMPLIFICATION OF THE ANONYMOUS MARKER D17S67 IN MALIGNANT ASTROCYTOMAS
Authors: BIJLSMA EK LEENSTRA S WESTERVELD A BOSCH DA HULSEBOS TJM
Citation: Ek. Bijlsma et al., AMPLIFICATION OF THE ANONYMOUS MARKER D17S67 IN MALIGNANT ASTROCYTOMAS, Genes, chromosomes & cancer, 9(2), 1994, pp. 148-152
ANALYSIS OF MUTATIONS IN THE SCH GENE IN SCHWANNOMAS
Authors: BIJLSMA EK MEREL P BOSCH DA WESTERVELD A DELATTRE O THOMAS G HULSEBOS TJM
Citation: Ek. Bijlsma et al., ANALYSIS OF MUTATIONS IN THE SCH GENE IN SCHWANNOMAS, Genes, chromosomes & cancer, 11(1), 1994, pp. 7-14
ALLELE LOSS ON CHROMOSOME-10 AND CHROMOSOME-17P AND EPIDERMAL GROWTH-FACTOR RECEPTOR GENE AMPLIFICATION IN HUMAN-MALIGNANT ASTROCYTOMA RELATED TO PROGNOSIS
Authors: LEENSTRA S BIJLSMA EK TROOST D OOSTING J WESTERVELD A BOSCH DA HULSEBOS TJM
Citation: S. Leenstra et al., ALLELE LOSS ON CHROMOSOME-10 AND CHROMOSOME-17P AND EPIDERMAL GROWTH-FACTOR RECEPTOR GENE AMPLIFICATION IN HUMAN-MALIGNANT ASTROCYTOMA RELATED TO PROGNOSIS, British Journal of Cancer, 70(4), 1994, pp. 684-689
REGIONAL FINE MAPPING OF THE BETA-CRYSTALLIN GENES ON CHROMOSOME-22 EXCLUDES THESE GENES AS PHYSICALLY LINKED MARKERS FOR NEUROFIBROMATOSISTYPE-2
Authors: BIJLSMA EK DELATTRE O JUYN JA MELOT T WESTERVELD A DUMANSKI JP THOMAS G HULSEBOS TJM
Citation: Ek. Bijlsma et al., REGIONAL FINE MAPPING OF THE BETA-CRYSTALLIN GENES ON CHROMOSOME-22 EXCLUDES THESE GENES AS PHYSICALLY LINKED MARKERS FOR NEUROFIBROMATOSISTYPE-2, Genes, chromosomes & cancer, 8(2), 1993, pp. 112-118
A PSTL POLYMORPHISM ASSOCIATED WITH CRYBA4 ON HUMAN CHROMOSOME-22
Authors: BIJLSMA EK HULSEBOS TJM
Citation: Ek. Bijlsma et Tjm. Hulsebos, A PSTL POLYMORPHISM ASSOCIATED WITH CRYBA4 ON HUMAN CHROMOSOME-22, Human molecular genetics, 2(11), 1993, pp. 1984-1984
Risultati: 1-13 |