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Results: 1-22 |
Results: 22
HUMAN MEIOTIC RECOMBINATION PRODUCTS REVEALED BY SEQUENCING A HOTSPOTFOR HOMOLOGOUS STRAND EXCHANGE IN MULTIPLE HNPP DELETION PATIENTS
Authors: REITER LT HASTINGS PJ NELIS E DEJONGHE P VANBROECKHOVEN C LUPSKI JR
Citation: Lt. Reiter et al., HUMAN MEIOTIC RECOMBINATION PRODUCTS REVEALED BY SEQUENCING A HOTSPOTFOR HOMOLOGOUS STRAND EXCHANGE IN MULTIPLE HNPP DELETION PATIENTS, American journal of human genetics, 62(5), 1998, pp. 1023-1033
CHARCOT-MARIE-TOOTH-DISEASE - AN INTERMEDIATE FORM
Authors: VILLANOVA M TIMMERMAN V DEJONGHE P MALANDRINI A RIZZUTO N VANBROECKHOVEN C GUAZZI GC ROSSI A
Citation: M. Villanova et al., CHARCOT-MARIE-TOOTH-DISEASE - AN INTERMEDIATE FORM, Neuromuscular disorders, 8(6), 1998, pp. 392-393
CONSTRUCTION OF A YAC CONTIG OF THE DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II REGION AT 12Q24
Authors: BEUTEN J DEJONGHE P CEUTERICK C MARTIN JJ VANBROECKHOVEN C TIMMERMAN V
Citation: J. Beuten et al., CONSTRUCTION OF A YAC CONTIG OF THE DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II REGION AT 12Q24, European journal of neuroscience, 10, 1998, pp. 15901-15901
PAINFUL HYPERESTHESIA CAUSED BY PROTEASE INHIBITORS
Authors: COLEBUNDERS R DEDROOGH E PELGROM Y DEPRAETERE K DEJONGHE P
Citation: R. Colebunders et al., PAINFUL HYPERESTHESIA CAUSED BY PROTEASE INHIBITORS, Infection, 26(4), 1998, pp. 250-251
MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP
Authors: NELIS E DEJONGHE P DEVRIENDT E PATEL PI MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP, Journal of Medical Genetics, 35(7), 1998, pp. 590-593
MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1 - IDENTIFICATION OF 5 NEW MUTATIONS
Authors: NELIS E SIMOKOVIC S TIMMERMAN V LOFGREN A BACKHOVENS H DEJONGHE P MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1 - IDENTIFICATION OF 5 NEW MUTATIONS, Human mutation, 9(1), 1997, pp. 47-52
MUTATION ANALYSIS OF THE HUMAN PANCREATIC PHOSPHOLIPASE A(2) GENE IN A FAMILY WITH DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II LINKED TO 12Q24
Authors: BEUTEN J DEVRIENDT E DEJONGHE P MARTIN JJ VANBROECKHOVEN C TIMMERMAN V
Citation: J. Beuten et al., MUTATION ANALYSIS OF THE HUMAN PANCREATIC PHOSPHOLIPASE A(2) GENE IN A FAMILY WITH DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II LINKED TO 12Q24, Neuroscience letters, 223(1), 1997, pp. 69-71
ASSIGNMENT OF THE LOCUS FOR DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II (DISTAL HMN-II) TO CHROMOSOME-12Q24
Authors: TIMMERMAN V BEUTEN J DEJONGHE P MARTIN JJ VANBROECKHOVEN C
Citation: V. Timmerman et al., ASSIGNMENT OF THE LOCUS FOR DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II (DISTAL HMN-II) TO CHROMOSOME-12Q24, Acta neurologica belgica, 97(1), 1997, pp. 56-56
MUTILATING NEUROPATHIC ULCERATIONS IN A CHROMOSOME 3Q13-Q22 LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 2B FAMILY
Authors: DEJONGHE P TIMMERMAN V FITZPATRICK D SPOELDERS P MARTIN JJ VANBROECKHOVEN C
Citation: P. Dejonghe et al., MUTILATING NEUROPATHIC ULCERATIONS IN A CHROMOSOME 3Q13-Q22 LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 2B FAMILY, Journal of Neurology, Neurosurgery and Psychiatry, 62(6), 1997, pp. 570-573
DETECTION OF THE CMT1A HNPP RECOMBINATION HOTSPOT IN UNRELATED PATIENTS OF EUROPEAN DESCENT/
Authors: TIMMERMAN V RAUTENSTRAUSS B REITER LT KOEUTH T LOFGREN A LIEHR T NELIS E BATHKE KD DEJONGHE P GREHL H MARTIN JJ LUPSKI JR VANBROECKHOVEN C
Citation: V. Timmerman et al., DETECTION OF THE CMT1A HNPP RECOMBINATION HOTSPOT IN UNRELATED PATIENTS OF EUROPEAN DESCENT/, Journal of Medical Genetics, 34(1), 1997, pp. 43-49
CONSTRUCTION OF A YAC CONTIG OF THE 12Q24 REGION FOR THE FINE MAPPINGOF A LOCUS FOR DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II
Authors: BEUTEN J DEJONGHE P CEUTERICK C MARTIN JJ VANBROECKHOVEN C TIMMERMAN V
Citation: J. Beuten et al., CONSTRUCTION OF A YAC CONTIG OF THE 12Q24 REGION FOR THE FINE MAPPINGOF A LOCUS FOR DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II, American journal of human genetics, 61(4), 1997, pp. 1343-1343
GENETIC-LINKAGE ANALYSIS IN FAMILIES WITH CHARCOT-MARIE-TOOTH TYPE-2 NEUROPATHY
Authors: TIMMERMAN V DEJONGHE P DEVRIENDT E FITZPATRICK D MALCOLM S VANBROECKHOVEN C
Citation: V. Timmerman et al., GENETIC-LINKAGE ANALYSIS IN FAMILIES WITH CHARCOT-MARIE-TOOTH TYPE-2 NEUROPATHY, American journal of human genetics, 61(4), 1997, pp. 2358-2358
MOLECULAR-GENETIC ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 (CMT2) FAMILIES WITH CHROMOSOME 1P35-36 AND 3Q13-22 MARKERS
Authors: SPOELDERS P LOFGREN A DEJONGHE P NELIS E MARTIN JJ VANBROECKHOVEN C TIMMERMAN V
Citation: P. Spoelders et al., MOLECULAR-GENETIC ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 (CMT2) FAMILIES WITH CHROMOSOME 1P35-36 AND 3Q13-22 MARKERS, Archives of physiology and biochemistry, 104(3), 1996, pp. 51-51
PURE FAMILIAL SPASTIC PARAPLEGIA - CLINICAL AND GENETIC-ANALYSIS OF 9BELGIAN PEDIGREES
Authors: DEJONGHE P KROLS L MICHALIK A HAZAN J SMEYERS G LOFGREN A WEISSENBACH J MARTIN JJ VANBROECKHOVEN C
Citation: P. Dejonghe et al., PURE FAMILIAL SPASTIC PARAPLEGIA - CLINICAL AND GENETIC-ANALYSIS OF 9BELGIAN PEDIGREES, European journal of human genetics, 4(5), 1996, pp. 260-266
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II (DISTAL HMN-II) - MAPPING OF A LOCUS TO CHROMOSOME 12Q24
Authors: TIMMERMAN V DEJONGHE P SIMOKOVIC S LOFGREN A BEUTEN J NELIS E CEUTERICK C MARTIN JJ VANBROECKHOVEN C
Citation: V. Timmerman et al., DISTAL HEREDITARY MOTOR NEUROPATHY TYPE-II (DISTAL HMN-II) - MAPPING OF A LOCUS TO CHROMOSOME 12Q24, Human molecular genetics, 5(7), 1996, pp. 1065-1069
MOLECULAR-GENETIC ANALYSIS OF THE 17P11.2 REGION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)
Authors: TIMMERMAN V LOFGREN A LEGUERN E LIANG P DEJONGHE P MARTIN JJ VERHALLE D ROBBERECHT W GOUIDER R BRICE A VANBROECKHOVEN C
Citation: V. Timmerman et al., MOLECULAR-GENETIC ANALYSIS OF THE 17P11.2 REGION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP), Human genetics, 97(1), 1996, pp. 26-34
YAC CONTIG MAP OF THE CANDIDATE REGION FOR FAMILIAL SPASTIC PARAPLEGIA (SPG4) ON CHROMOSOME 2P21-]P14
Authors: KROLS L MICHALIK A DEJONGHE P MARTIN JJ VANBROECKHOVEN C
Citation: L. Krols et al., YAC CONTIG MAP OF THE CANDIDATE REGION FOR FAMILIAL SPASTIC PARAPLEGIA (SPG4) ON CHROMOSOME 2P21-]P14, Cytogenetics and cell genetics, 73(4), 1996, pp. 7-7
LINKAGE AND MUTATION ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 FAMILIES WITH CHROMOSOMES 1P35-P36 AND XQ13
Authors: TIMMERMAN V DEJONGHE P SPOELDERS P SIMOKOVIC S LOFGREN A NELIS E VANCE J MARTIN JJ VANBROECKHOVEN C
Citation: V. Timmerman et al., LINKAGE AND MUTATION ANALYSIS OF CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-2 FAMILIES WITH CHROMOSOMES 1P35-P36 AND XQ13, Neurology, 46(5), 1996, pp. 1311-1318
IDENTIFICATION OF A 5' SPLICE-SITE MUTATION IN THE PMP-22 GENE IN AUTOSOMAL-DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE-1
Authors: NELIS E TIMMERMAN V DEJONGHE P VANBROECKHOVEN C
Citation: E. Nelis et al., IDENTIFICATION OF A 5' SPLICE-SITE MUTATION IN THE PMP-22 GENE IN AUTOSOMAL-DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE-1, Human molecular genetics, 3(3), 1994, pp. 515-516
RAPID SCREENING OF MYELIN GENES IN CMT1 PATIENTS BY SSCP ANALYSIS - IDENTIFICATION OF NEW MUTATIONS AND POLYMORPHISMS IN THE P-0 GENE
Authors: NELIS E TIMMERMAN V DEJONGHE P VANDENBERGHE A PHAMDINH D DAUTIGNY A MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., RAPID SCREENING OF MYELIN GENES IN CMT1 PATIENTS BY SSCP ANALYSIS - IDENTIFICATION OF NEW MUTATIONS AND POLYMORPHISMS IN THE P-0 GENE, Human genetics, 94(6), 1994, pp. 653-657
LINKAGE AND MUTATION ANALYSIS IN AN EXTENDED FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B
Authors: NELIS E TIMMERMAN V DEJONGHE P MUYLLE L MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., LINKAGE AND MUTATION ANALYSIS IN AN EXTENDED FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B, Journal of Medical Genetics, 31(10), 1994, pp. 811-815
ORIGIN OF THE DE-NOVO DUPLICATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE1A - UNEQUAL NONSISTER CHROMATID EXCHANGE DURING SPERMATOGENESIS
Authors: PALAU F LOFGREN A DEJONGHE P BORT S NELIS E SEVILLA T MARTIN JJ VILCHEZ J PRIETO F VANBROECKHOVEN C
Citation: F. Palau et al., ORIGIN OF THE DE-NOVO DUPLICATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE1A - UNEQUAL NONSISTER CHROMATID EXCHANGE DURING SPERMATOGENESIS, Human molecular genetics, 2(12), 1993, pp. 2031-2035
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