المؤلفون: von Salome, J, Liu, T, Keihas, M, Morak, M, Holinski-Feder, E, Berry, IR, Moilanen, JS, Baert-Desurmont, S, Lindblom, A, Lagerstedt-Robinson, K

المصدر: Familial cancer. 17(4):531-537

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139269660

المؤلفون: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A, Eccles, DM, Tischkowitz, M, Ellard, S, Ware, JS, Hanson, H, Turnbull, C

مصطلحات موضوعية: ACMG, Classification, Codon, PM5, Variant

وصف الملف: 552 - 563

Relation: GENETICS IN MEDICINE; https://qmro.qmul.ac.uk/xmlui/handle/123456789/75758

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/75758
https://doi.org/10.1016/j.gim.2021.11.011

المؤلفون: Loong, L, Garrett, A, Allen, S, Choi, S, Durkie, M, Callaway, A, Drummond, J, Burghel, GJ, Robinson, R, Torr, B, Berry, IR, Wallace, AJ, Eccles, DM, Ellard, S, Baple, E, Evans, DG, Woodward, ER, Kulkarni, A, Lalloo, F, Tischkowitz, M, Lucassen, A, Hanson, H, Turnbull, C, CanVIG-UK

المساهمون: Pronin, Lucy Wai Yee, Garrett, Alice, Allen, Sophie, Pemberton - Whiteley, Bethany, Turnbull, Clare

مصطلحات موضوعية: Classification, Reclassification, Recontact, Reinterpretation, Variant

جغرافية الموضوع: United States

وصف الملف: Print-Electronic; S1098-3600(22)00757-2 -; application/pdf

Relation: S1098-3600(22)00757-2; Genetics in Medicine, 2022, pp. S1098-3600(22)00757-2 -; https://repository.icr.ac.uk/handle/internal/5317

الاتاحة: https://repository.icr.ac.uk/handle/internal/5317
https://doi.org/10.1016/j.gim.2022.05.002

المؤلفون: Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Torr, B, Cubuk, C, Berry, IR, Wallace, AJ, Ellard, S, Eccles, DM, Tischkowitz, M, CanVIG-UK

المصدر: Durkie , M , Callaway , A , Burghel , GJ , Drummond , J , Torr , B , Cubuk , C , Berry , IR , Wallace , AJ , Ellard , S , Eccles , DM , Tischkowitz , M & CanVIG-UK 2020 , ' Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. ' , Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107248

وصف الملف: application/pdf

الاتاحة: https://research.manchester.ac.uk/en/publications/62e1e265-56c1-466a-aa87-c0a6a9bfb822
https://doi.org/10.1136/jmedgenet-2020-107248
https://pure.manchester.ac.uk/ws/files/184594093/jmedgenet_2020_107248.full.pdf
http://europepmc.org/abstract/med/33208383

المؤلفون: Garrett, A, Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, GJ, Robinson, R, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D, Berry, IR, Drummond, J, Wallace, AJ, Norbury, G, Eccles, DM, Ellard, S, Lalloo, F, Evans, DG, Woodward, E, Tischkowitz, M, Hanson, H, Turnbull, C, CanVIG-UK

مصطلحات موضوعية: clinical genetics, genetics, guidelines, molecular genetics, oncology

Relation: J Med Genet; https://qmro.qmul.ac.uk/xmlui/handle/123456789/67975

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/67975
https://doi.org/10.1136/jmedgenet-2019-106759

المؤلفون: Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER, Bateman M, Campbell C, Campbell J, Carey G, Cohen K, Collingwood E, Constantinou P, Delmege C, Ellis R, Evans J, Everett T, Pinto CF, Forrester N, Fowler E, Hamilton S, Healey K, Hudson R, Lewis R, Marton T, Mehta S, Park S-M, Rowland J, Steer J, Taylor EJ, Wilson E

المصدر: The Lancet, 23 February - 1 March 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/255527; https://eprints.ncl.ac.uk/fulltext.aspx?url=255527/CA73740A-7117-4AC6-A132-440C9B40C564.pdf&pub_id=255527

الاتاحة: https://eprints.ncl.ac.uk/255527

المؤلفون: Whitehouse, LLE, Smith, CEL, Poulter, JA, Brown, CJ, Patel, A, Lamb, T, Brown, LR, O'Sullivan, EA, Mitchell, RE, Berry, IR, Charlton, R, Inglehearn, CF, Mighell, AJ

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/134220/18/Whitehouse_et_al-2019-Oral_Diseases.pdf; Whitehouse, LLE, Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2019) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. Oral Diseases, 25 (1). pp. 182-191. ISSN 1354-523X

الاتاحة: https://eprints.whiterose.ac.uk/134220/
https://eprints.whiterose.ac.uk/134220/18/Whitehouse_et_al-2019-Oral_Diseases.pdf

المؤلفون: Lord, J, McMullan, DJ, Eberhardt, RY, Rinck, G, Hamilton, SJ, Quinlan-Jones, E, Prigmore, E, Keelagher, R, Best, SK, Carey, GK, Mellis, R, Robart, S, Berry, IR, Chandler, KE, Cilliers, D, Cresswell, L, Edwards, SL, Gardiner, C, Henderson, A, Holden, ST, Homfray, T, Lester, T, Lewis, RA, Newbury-Ecob, R, Prescott, K, Quarrell, OW, Ramsden, SC, Roberts, E, Tapon, D, Tooley, MJ, Vasudevan, PC, Weber, AP, Wellesley, DG, Westwood, P, White, H, Parker, M, Williams, D, Jenkins, L, Scott, RH, Kilby, MD, Chitty, LS, Hurles, ME, Maher, ER

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdf; Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173). pp. 747-757. ISSN 0140-6736

الاتاحة: https://eprints.whiterose.ac.uk/157005/
https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdf

المؤلفون: Hartill, VL, van de Hoek, G, Patel, MP, Little, R, Watson, CM, Berry, IR, Shoemark, A, Abdelmottaleb, D, Parkes, E, Bacchelli, C, Szymanska, K, Knoers, NV, Scambler, PJ, Ueffing, M, Boldt, K, Yates, R, Winyard, PJ, Adler, B, Moya, E, Hattingh, L, Shenoy, A, Hogg, C, Sheridan, E, Roepman, R, Norris, D, Mitchison, HM, Giles, RH, Johnson, CA

المصدر: Human Molecular Genetics (2017) (In press).

مصطلحات موضوعية: phenotype, situs, inversu mutation, congenital heart disease, adenosine, triphosphatases, carrier proteins, cell motility, cytoplasm, dynein atpase, embryo, homozygote, missense mutation, relationship - sibling, zebrafish arm cilia, heart, handedness, mice vesicle pathogenicity heart looping gene complementation cardiac development

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10040807/1/ddx422.pdf; https://discovery.ucl.ac.uk/id/eprint/10040807/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10040807/1/ddx422.pdf
https://discovery.ucl.ac.uk/id/eprint/10040807/

المؤلفون: Whitehouse, LLE, Smith, CEL, Poulter, JA, Brown, CJ, Patel, A, Lamb, T, Brown, LR, O'Sullivan, EA, Mitchell, RE, Berry, IR, Charlton, R, Inglehearn, CF, Mighell, AJ

المصدر: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology ; volume 132, issue 1, page e52 ; ISSN 2212-4403

الاتاحة: http://dx.doi.org/10.1016/j.oooo.2021.03.184
https://api.elsevier.com/content/article/PII:S2212440321003667?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2212440321003667?httpAccept=text/plain

المؤلفون: Lenk, GM, Berry, IR, Stutterd, CA, Blyth, M, Green, L, Vadlamani, G, Warren, D, Craven, I, Fanjul-Fernandez, M, Rodriguez-Casero, V, Lockhart, PJ, Vanderver, A, Simons, C, Gibb, S, Sadedin, S, White, SM, Christodoulou, J, Skibina, O, Ruddle, J, Tan, TY, Leventer, RJ, Livingston, JH, Meisler, MH

Relation: Lenk, G. M., Berry, I. R., Stutterd, C. A., Blyth, M., Green, L., Vadlamani, G., Warren, D., Craven, I., Fanjul-Fernandez, M., Rodriguez-Casero, V., Lockhart, P. J., Vanderver, A., Simons, C., Gibb, S., Sadedin, S., White, S. M., Christodoulou, J., Skibina, O., Ruddle, J. ,. Meisler, M. H. (2019). Cerebral hypomyelination associated with biallelic variants of FIG4. HUMAN MUTATION, 40 (5), pp.619-630. https://doi.org/10.1002/humu.23720.; http://hdl.handle.net/11343/285498

الاتاحة: http://hdl.handle.net/11343/285498

المؤلفون: Hartill, VL, Van de Hoek, G, Patel, MP, Little, R, Watson, CM, Berry, IR, Shoemark, A, Abdelmottaleb, D, Parkes, E, Bacchelli, C, Szymanska, K, Knoers, NV, Scambler, PJ, Ueffing, M, Boldt, K, Yates, R, Winyard, PJ, Adler, B, Moya, E, Hattingh, L, Shenoy, A, Hogg, C, Sheridan, E, Roepman, R, Norris, D, Mitchison, HM, Giles, RH, Johnson, CA

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/124772/8/ddx422.pdf; Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

الاتاحة: https://eprints.whiterose.ac.uk/124772/
https://eprints.whiterose.ac.uk/124772/8/ddx422.pdf