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Results: 1-9 |
Results: 9
MUTATION SPECTRUM AND GENOTYPE-PHENOTYPE ANALYSES IN COWDEN-DISEASE AND BANNAYAN-ZONANA-SYNDROME, 2 HAMARTOMA SYNDROMES WITH GERMLINE PTEN MUTATION
Authors: MARSH DJ COULON V LUNETTA KL ROCCASERRA P DAHIA PLM ZHENG ZM LIAW D CARON S DUBOUE B LIN AY RICHARDSON AL BONNETBLANC JM BRESSIEUX JM CABARROTMOREAU A CHOMPRET A DEMANGE L EELES RA YAHANDA AM FEARON ER FRICKER JP GORLIN RJ HODGSON SV HUSON S LACOMBE D LEPRAT F ODENT S TOULOUSE C OLOPADE OI SOBOL H TISHLER S WOODS CG ROBINSON BG WEBER HC PARSONS R PEACOCKE M LONGY M ENG C
Citation: Dj. Marsh et al., MUTATION SPECTRUM AND GENOTYPE-PHENOTYPE ANALYSES IN COWDEN-DISEASE AND BANNAYAN-ZONANA-SYNDROME, 2 HAMARTOMA SYNDROMES WITH GERMLINE PTEN MUTATION, Human molecular genetics, 7(3), 1998, pp. 507-515
DEL(18P) SHOWN TO BE A CRYPTIC TRANSLOCATION USING A MULTIPROBE FISH ASSAY FOR SUBTELOMERIC CHROMOSOME REARRANGEMENTS
Authors: HORSLEY SW KNIGHT SJL NIXON J HUSON S FITCHETT M BOONE RA HILTONJONES D FLINT J KEARNEY L
Citation: Sw. Horsley et al., DEL(18P) SHOWN TO BE A CRYPTIC TRANSLOCATION USING A MULTIPROBE FISH ASSAY FOR SUBTELOMERIC CHROMOSOME REARRANGEMENTS, Journal of Medical Genetics, 35(9), 1998, pp. 722-726
PANCREAS TUMORS ASSOCIATED WITH VON-HIPPEL-LINDAU-DISEASE
Authors: BLAIR E OKAJIMA H XU M BRAMHALL SR BRITON BJ HUSON S MAHER ER HEATH D BUCKELS JAC
Citation: E. Blair et al., PANCREAS TUMORS ASSOCIATED WITH VON-HIPPEL-LINDAU-DISEASE, Journal of Medical Genetics, 34, 1997, pp. 546-546
A SEX BIAS IN THE ORIGIN OF NEW MUTATIONS IN THE NF1 GENE - THE NATURE OF MUTATIONS AND THEIR POSSIBLE MOLECULAR MECHANISMS
Authors: UPADHYAYA M MAYNARD J RUGGIERI M HUSON S PONDER M KRAWCZAK M PONDER BAJ COOPER DN
Citation: M. Upadhyaya et al., A SEX BIAS IN THE ORIGIN OF NEW MUTATIONS IN THE NF1 GENE - THE NATURE OF MUTATIONS AND THEIR POSSIBLE MOLECULAR MECHANISMS, American journal of human genetics, 61(4), 1997, pp. 2045-2045
LATE-ONSET HUNTINGTONS-DISEASE AS A CAUSE OF DEMENTIA - WHERE SHOULD THE CLINICIAN INDEX OF SUSPICION LIE
Authors: HINDLEY N NORBURY G JOBST K ROSSER E HUSON S PEARCE MJ KING E
Citation: N. Hindley et al., LATE-ONSET HUNTINGTONS-DISEASE AS A CAUSE OF DEMENTIA - WHERE SHOULD THE CLINICIAN INDEX OF SUSPICION LIE, International journal of geriatric psychiatry, 11(8), 1996, pp. 729-733
A PERICENTRIC-INVERSION OF CHROMOSOME-6 IN A PATIENT WITH PEUTZ-JEGHERS SYNDROME AND THE USE OF FISH TO LOCALIZE THE BREAKPOINTS ON A GENETIC-MAP
Authors: MARKIE D HUSON S MAHER E DAVIES A TOMLINSON I BODMER WF
Citation: D. Markie et al., A PERICENTRIC-INVERSION OF CHROMOSOME-6 IN A PATIENT WITH PEUTZ-JEGHERS SYNDROME AND THE USE OF FISH TO LOCALIZE THE BREAKPOINTS ON A GENETIC-MAP, Human genetics, 98(2), 1996, pp. 125-128
ARTHROGRYPOSIS MULTIPLEX CONGENITA ASSOCIATED WITH MATERNAL ANTIBODIES TO FETAL ACETYLCHOLINE-RECEPTOR
Authors: VINCENT A RIEMERSMA S BEESON D HUSON S BRUETON L NEWLAND C NEWSOMDAVIS J
Citation: A. Vincent et al., ARTHROGRYPOSIS MULTIPLEX CONGENITA ASSOCIATED WITH MATERNAL ANTIBODIES TO FETAL ACETYLCHOLINE-RECEPTOR, Neurology, 46(2), 1996, pp. 1004-1004
MYASTHENIA-GRAVIS - AN IMPORTANT CAUSE OF THE PENA-SHOKEIR PHENOTYPE
Authors: BRUETON L HUSON S THOMPSON E VINCENT A HAWKE S PRICE J SHIRLEY D BARNES P NEWSOMDAVIS J
Citation: L. Brueton et al., MYASTHENIA-GRAVIS - AN IMPORTANT CAUSE OF THE PENA-SHOKEIR PHENOTYPE, Journal of Medical Genetics, 31(2), 1994, pp. 167-167
DIAGNOSTIC EXPERIENCE OF ANALYSIS FOR MYOTONIC-DYSTROPHY
Authors: NORBURY G SELLER A HUSON S
Citation: G. Norbury et al., DIAGNOSTIC EXPERIENCE OF ANALYSIS FOR MYOTONIC-DYSTROPHY, Journal of Medical Genetics, 31(2), 1994, pp. 171-172
Risultati: 1-9 |