المؤلفون: Innes, Josie, Reali, Lisa, Clayton-Smith, Jill, Hall, Georgina, Lim, Derek Hk, Burghel, George J, French, Kim, Khan, Unzela, Walker, Daniel, Lalloo, Fiona, Evans, D Gareth R, McMullan, Dominic, Maher, Eamonn R, Woodward, Emma R

مصطلحات موضوعية: copy-number, genetic screening/counselling, genetics, microarray, Bone Morphogenetic Protein Receptors, Type I, Child, Preschool, Chromosome Deletion, Cohort Studies, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Humans, Incidental Findings, Infant, Male, Membrane Proteins, Microarray Analysis, Neoplasms, Oncogenes, Pilot Projects, Proto-Oncogene Mas, Tuberous Sclerosis Complex 2 Protein

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/270684Test

الإتاحة: https://doi.org/10.17863/CAM.17633Test
https://www.repository.cam.ac.uk/handle/1810/270684Test

المؤلفون: Ricketts, Christopher J, Forman, Julia R, Rattenberry, Eleanor, Bradshaw, Nicola, Lalloo, Fiona, Izatt, Louise, Cole, Trevor R, Armstrong, Ruth, Kumar, V K Ajith, Morrison, Patrick J, Atkinson, A Brew, Douglas, Fiona, Ball, Steve G, Cook, Jackie, Srirangalingam, Umasuthan, Killick, Pip, Kirby, Gail, Aylwin, Simon, Woodward, Emma R, Evans, D Gareth R, Hodgson, Shirley V, Murday, Vicky, Chew, Shern L, Connell, John M, Blundell, Tom L, Macdonald, Fiona, Maher, Eamonn R

المصدر: Ricketts , C J , Forman , J R , Rattenberry , E , Bradshaw , N , Lalloo , F , Izatt , L , Cole , T R , Armstrong , R , Kumar , V K A , Morrison , P J , Atkinson , A B , Douglas , F , Ball , S G , Cook , J , Srirangalingam , U , Killick , P , Kirby , G , Aylwin , S , Woodward , E R , Evans , D G R , Hodgson , S V , Murday , V ....

مصطلحات موضوعية: Adolescent, Adrenal Gland Neoplasms/genetics, Adult, Aged, Child, Preschool, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genotype, Germ-Line Mutation, Head and Neck Neoplasms/genetics, Humans, Male, Middle Aged, Paraganglioma/genetics, Phenotype, Pheochromocytoma/genetics, Succinate Dehydrogenase/genetics, Young Adult

الإتاحة: https://doi.org/10.1002/humu.21136Test
https://kclpure.kcl.ac.uk/portal/en/publications/a36e2cb6-85a3-49cb-899f-ab00a5517466Test

المؤلفون: Sharif, Saba, Ferner, Rosalie, Birch, Jillian M, Gillespie, James E, Gattamaneni, Rao, Baser, Michael E, Evans, D Gareth R

المساهمون: Department of Clinical Genetics, St Mary's Hospital, Manchester, United Kingdom.

مصطلحات موضوعية: Cancer, Adolescent, Adult, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Male, Neoplasms, Second Primary, Neurofibromatosis 1, Optic Nerve Glioma, Radiotherapy, Risk Assessment, Risk Factors

العلاقة: Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. 2006, 24 (16):2570-5 J. Clin. Oncol.; http://hdl.handle.net/10541/72619Test; Journal of Clinical Oncology

الإتاحة: https://doi.org/10.1200/JCO.2005.03.8349Test
http://hdl.handle.net/10541/72619Test

المؤلفون: Warren, C, James, Louise A, Ramsden, Richard T, Wallace, A, Baser, Michael E, Varley, Jennifer, Evans, D Gareth R

المساهمون: Cancer Research UK Department of Cancer Genetics, The Paterson Institute for Cancer Research, Manchester, UK.

مصطلحات موضوعية: Adolescent, Adult, Aged, Child, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 9, Female, Gene Amplification, Genes, Neurofibromatosis 2, Humans, Loss of Heterozygosity, Male, Middle Aged, Neuroma, Acoustic, Nucleic Acid Hybridization, Recurrence

العلاقة: Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation. 2003, 40 (11):802-6 J. Med. Genet.; http://hdl.handle.net/10541/81285Test; Journal of Medical Genetics

الإتاحة: https://doi.org/10.1136/jmg.40.11.802Test
http://hdl.handle.net/10541/81285Test

المؤلفون: Astuti, Dewi, Hart-Holden, Niki, Latif, Farida, Lalloo, Fiona, Black, G C, Lim, Caron, Moran, Anthony, Grossman, Ashley B, Hodgson, Shirley V, Freemont, Anthony J, Ramsden, Richard T, Eng, Charis, Evans, D Gareth R, Maher, Eamonn R

المساهمون: Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham, UK.

مصطلحات موضوعية: Adrenal Gland Cancer, Head and Neck Cancer, Cancer Proteins, Adolescent, Adrenal Gland Neoplasms, Adult, Child, DNA Mutational Analysis, Genetic Predisposition to Disease, Germ-Line Mutation, Head and Neck Neoplasms, Humans, Iron-Sulfur Proteins, Membrane Proteins, Middle Aged, Neoplasm Proteins, Paraganglioma, Pheochromocytoma, Protein Subunits, Succinate Dehydrogenase

العلاقة: Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. 2003, 59 (6):728-33 Clin. Endocrinol.; http://hdl.handle.net/10541/78893Test; Clinical Endocrinology

الإتاحة: https://doi.org/10.1046/j.1365-2265.2003.01914.xTest
http://hdl.handle.net/10541/78893Test

المؤلفون: Singhal, S, Birch, Jillian M, Kerr, B, Lashford, Linda S, Evans, D Gareth R

المساهمون: Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, UK.

مصطلحات موضوعية: Brain Cancer, Cancer Recurrence, Second Primary Cancer, Central Nervous System Cancer, Adolescent, Age Distribution, Brain Neoplasms, Central Nervous System Neoplasms, Child, Preschool, England, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Neoplasm Recurrence, Local, Neoplasms, Second Primary, Neurofibromatosis 1, Optic Nerve Glioma, Retrospective Studies, Survival Rate, Vision Disorders

العلاقة: Neurofibromatosis type 1 and sporadic optic gliomas. 2002, 87 (1):65-70 Arch. Dis. Child.; http://hdl.handle.net/10541/80199Test; Archives of Disease in Childhood

الإتاحة: https://doi.org/10.1136/adc.87.1.65Test
http://hdl.handle.net/10541/80199Test

المؤلفون: Birch, Jillian M, Alston, Robert D, McNally, Richard J Q, Evans, D Gareth R, Kelsey, Anna M, Harris, Martin, Eden, Tim O B, Varley, Jennifer

المساهمون: CRC Paediatric and Familial Cancer Research Group and Department of Pathology, Royal Manchester Children's Hospital, Stancliffe, Hospital Road, Manchester M27 4HA, UK. Jillian.m.birch@man.ac.uk

مصطلحات موضوعية: Tumour Suppressor Protein p53, Adolescent, Adult, Aged, Child, Preschool, Cohort Studies, Family Health, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Heterozygote, Humans, Infant, Li-Fraumeni Syndrome, Male, Middle Aged, Tumor Suppressor Protein p53

العلاقة: Relative frequency and morphology of cancers in carriers of germline TP53 mutations. 2001, 20 (34):4621-8 Oncogene; http://hdl.handle.net/10541/84125Test; Oncogene

الإتاحة: https://doi.org/10.1038/sj.onc.1204621Test
http://hdl.handle.net/10541/84125Test

المؤلفون: Varley, Jennifer, McGown, Gail, Thorncroft, Mary R, James, Louise A, Margison, Geoffrey P, Forster, Gill, Evans, D Gareth R, Harris, Martin, Kelsey, Anna M, Birch, Jillian M

المساهمون: Cancer Research Campaign, Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, United Kingdom. jvarley@picr.man.ac.uk

مصطلحات موضوعية: Adrenal Cortex Cancer, Cancer Proteins, Adaptor Proteins, Signal Transducing, Adolescent, Adrenal Cortex Neoplasms, Adult, Age of Onset, Aged, Alleles, Carrier Proteins, Child, Preschool, DNA Mutational Analysis, DNA-Binding Proteins, Female, Genes, p53, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Humans, Immunohistochemistry, Li-Fraumeni Syndrome, Loss of Heterozygosity, Male, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, MutS Homolog 2 Protein

العلاقة: Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 1999, 65 (4):995-1006 Am. J. Hum. Genet.; http://hdl.handle.net/10541/91399Test; American Journal of Human Genetics

الإتاحة: https://doi.org/10.1086/302575Test
http://hdl.handle.net/10541/91399Test

المؤلفون: Varley, Jennifer, McGown, Gail, Thorncroft, Mary R, White, Gavin R M, Tricker, K J, Kelsey, Anna M, Birch, Jillian M, Evans, D Gareth R

المساهمون: CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.

مصطلحات موضوعية: Kidney Cancer, Tumour Suppressor Protein p53, Wilms Tumour, Child, Preschool, Exons, Female, Germ-Line Mutation, Heterozygote, Humans, Kidney Neoplasms, Li-Fraumeni Syndrome, Male, Pedigree, Point Mutation, Tumor Suppressor Protein p53, Wilms Tumor

العلاقة: A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 1998, 78 (8):1081-3 Br. J. Cancer; 9792154; http://hdl.handle.net/10541/93411Test; British Journal of Cancer

الإتاحة: http://hdl.handle.net/10541/93411Test

المؤلفون: Birch, Jillian M, Blair, Val, Kelsey, Anna M, Evans, D Gareth R, Harris, Martin, Tricker, K J, Varley, Jennifer

المساهمون: CRC Paediatric and Familial Cancer Research Group and Department of Histopathology, Royal Manchester Children's Hospital, UK.

مصطلحات موضوعية: Tumour Suppressor Protein p53, Cancer, Adolescent, Adult, Age Factors, Aged, 80 and over, Chi-Square Distribution, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Family, Family Health, Female, Genotype, Germ-Line Mutation, Humans, Infant, Newborn, Li-Fraumeni Syndrome, Male, Middle Aged, Neoplasms, Pedigree, Phenotype, Tumor Suppressor Protein p53

العلاقة: Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. 1998, 17 (9):1061-8 Oncogene; 9764816; http://hdl.handle.net/10541/92046Test; Oncogene

الإتاحة: https://doi.org/10.1038/sj.onc.1202033Test
http://hdl.handle.net/10541/92046Test