المؤلفون: Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, JF, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, PRHJ, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, DA, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Danecek, P, Day, INM, Day-Williams, A, Dominiczak, A, Down, T, Du, Y, Dunham, I, Durbin, R, Edkins, S, Ekong, R, Ellis, P, Evans, DM, Farooqi, IS, Fitzpatrick, DR, Flicek, P, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Gaunt, TR, Geihs, M, Geschwind, D, Greenwood, CMT, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, AE, Holmans, P, Howie, B, Huang, J, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Joyce, C, Karczewski, KJ, Kaye, J, Keane, T, Kemp, JP, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, van Kogelenberg, M, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, Mangino, M, Marchini, J, Marenne, G, Maslen, J, Mathieson, I, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Memari, Y, Metrustry, S, Migone, N, Mitchison, HM, Moayyeri, A, Morris, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, MC, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Payne, SJ, Perry, JRB, Pietilainen, O, Plagnol, V, Pollitt, RC, Porteous, DJ, Povey, S, Quail, MA, Quaye, L, Raymond, FL, Rehnstrom, K, Richards, JB, Ridout, CK, Ring, S, Ritchie, GRS, Roberts, N, Robinson, RL, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, RH, Semple, RK, Serra, E, Sharp, SI, Shaw, A, Shihab, HA, Shin, S-Y, Skuse, D, Small, KS, Smee, C, Smith, BH, Soranzo, N, Southam, L, Spasic-Boskovic, O, Spector, TD, St Clair, D, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vandersteen, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Wong, K, Xu, C, Yang, J, Zhang, F, Zhang, P, Zheng, H-F, Smith, GD, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bonnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B, UK10K Consortium

المساهمون: Epidemiology, Erasmus MC other, Pediatrics, Internal Medicine, Child and Adolescent Psychiatry / Psychology

المصدر: Nature Communications, 10:357. Nature Publishing Group

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6520f507a01a43d0aeb27c426c74275b
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf

المؤلفون: Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, Jl, Danecek, P, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hf, Gambaro, G, Richards, Jb, Durbin, R, Timpson, Nj, Marchini, J, Soranzo, N, Al Turki, S, Amuzu, A, Anderson, Ca, Anney, R, Antony, D, Artigas, Ms, Ayub, M, Bala, S, Barrett, Jc, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, Pf, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Casas, Jp, Chambers, Jc, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, Da, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, In, Day Williams, A, Dedoussis, G, Down, T, Du, Y, van Duijn, Cm, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, Dm, Farooqi, Is, Fitzpatrick, Dr, Flicek, P, Floyd, J, Foley, Ar, Franklin, Cs, Futema, M, Gallagher, L, Gasparini, P, Gaunt, Tr, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, Ae, Holmans, P, Huang, L, Hubbard, T, Humphries, Se, Hurles, Me, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, Dk, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, Kj, Kaye, J, Keane, T, Kemp, Jp, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, Me, van Kogelenberg, M, Kolb Kokocinski, A, Kooner, Js, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, van Leeuwen, Em, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, Lr, Lopes, M, Luan, J, Macarthur, Dg, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, Am, Mckechanie, Ag, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, Hm, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, Bg, Northstone, K, O'Donovan, Mc, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, Mj, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, Jr, Paternoster, L, Paunio, T, Payne, F, Payne, Sj, Perry, Jr, Pietilainen, O, Plagnol, V, Pollitt, Rc, Povey, S, Quail, Ma, Quaye, L, Raymond, L, Rehnström, K, Ridout, Ck, Ring, S, Ritchie, Gr, Roberts, N, Robinson, Rl, Savage, Db, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, Rh, Scott, Ra, Semple, Rk, Serra, E, Sharp, Si, Shaw, A, Shihab, Ha, Shin, Sy, Skuse, D, Small, Ks, Smee, C, Smith, Gd, Southam, L, Spasic Boskovic, O, Spector, Td, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, Md, Toniolo, D, Traglia, M, Tybjaerg Hansen, A, Valdes, Am, Vandersteen, Am, Varbo, A, Vijayarangakannan, P, Visscher, Pm, Wain, Lv, Walters, Jt, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, Hj, Williamson, Ka, Wilson, C, Wilson, Sg, Wong, K, Xu, C, Yang, J, Zaza, Gianluigi, Zeggini, E, Zhang, F, Zhang, P, Zhang, W.

المساهمون: Clinicum, Department of Psychiatry, Jie, Huang, Bryan, Howie, Shane, Mccarthy, Yasin, Memari, Klaudia, Walter, Josine L., Min, Petr, Danecek, Giovanni, Malerba, Elisabetta, Trabetti, Hou Feng, Zheng, Saeed Al, Turki, Antoinette, Amuzu, Carl A., Anderson, Richard, Anney, Dinu, Antony, María Soler, Artiga, Muhammad, Ayub, Senduran, Bala, Jeffrey C., Barrett, Inês, Barroso, Phil, Beale, Marianne, Benn, Jamie, Bentham, Shoumo, Bhattacharya, Ewan, Birney, Douglas, Blackwood, Martin, Bobrow, Elena, Bochukova, Patrick F., Bolton, Rebecca, Bound, Chris, Boustred, Gerome, Breen, Mattia, Calissano, Keren, Car, Juan Pablo, Casa, John C., Chamber, Ruth, Charlton, Krishna, Chatterjee, Lu, Chen, Antonio, Ciampi, Sebahattin, Cirak, Peter, Clapham, Gail, Clement, Guy, Coate, Cocca, Massimiliano, David A., Collier, Catherine, Cosgrove, Tony, Cox, Nick, Craddock, Lucy, Crook, Sarah, Curran, David, Curti, Allan, Daly, Ian N. M., Day, Aaron Day, William, George, Dedoussi, Thomas, Down, Yuanping, Du, Cornelia M., van Duijn, Ian, Dunham, Sarah, Edkin, Rosemary, Ekong, Peter, Elli, David M., Evan, I., Sadaf Farooqi, David R., Fitzpatrick, Paul, Flicek, James, Floyd, A., Reghan Foley, Christopher S., Franklin, Marta, Futema, Louise, Gallagher, Gasparini, Paolo, Tom R., Gaunt, Matthias, Geih, Daniel, Geschwind, Celia, Greenwood, Heather, Griffin, Detelina, Grozeva, Xiaosen, Guo, Xueqin, Guo, Hugh, Gurling, Deborah, Hart, Audrey E., Hendrick, Peter, Holman, Liren, Huang, Tim, Hubbard, Steve E., Humphrie, Matthew E., Hurle, Pirro, Hysi, Valentina, Iotchkova, Aaron, Isaac, David K., Jackson, Yalda, Jamshidi, Jon, Johnson, Chris, Joyce, Konrad J., Karczewski, Jane, Kaye, Thomas, Keane, John P., Kemp, Karen, Kennedy, Alastair, Kent, Julia, Keogh, Farrah, Khawaja, Marcus E., Kleber, Margriet van, Kogelenberg, Anja Kolb, Kokocinski, Jaspal S., Kooner, Genevieve, Lachance, Claudia, Langenberg, Cordelia, Langford, Daniel, Lawson, Irene, Lee, Elisabeth M., van Leeuwen, Monkol, Lek, Rui, Li, Yingrui, Li, Jieqin, Liang, Hong, Lin, Ryan, Liu, Jouko, Lönnqvist, Luis R., Lope, Margarida, Lope, Jian'An, Luan, Daniel G., Macarthur, Massimo, Mangino, Gaëlle, Marenne, Winfried, März, John, Maslen, Angela, Matchan, Iain, Mathieson, Peter, Mcguffin, Andrew M., Mcintosh, Andrew G., Mckechanie, Andrew, Mcquillin, Sarah, Metrustry, Nicola, Migone, Hannah M., Mitchison, Alireza, Moayyeri, James, Morri, Richard, Morri, Dawn, Muddyman, Francesco, Muntoni, Børge G., Nordestgaard, Kate, Northstone, Michael C., O'Donovan, Stephen, O'Rahilly, Alexandros, Onoufriadi, Karim, Oualkacha, Michael J., Owen, Aarno, Palotie, Kalliope, Panoutsopoulou, Victoria, Parker, Jeremy R., Parr, Lavinia, Paternoster, Tiina, Paunio, Felicity, Payne, Stewart J., Payne, John R. B., Perry, Olli, Pietilainen, Vincent, Plagnol, Rebecca C., Pollitt, Sue, Povey, Michael A., Quail, Lydia, Quaye, Lucy, Raymond, Karola, Rehnström, Cheryl K., Ridout, Susan, Ring, Graham R. S., Ritchie, Nicola, Robert, Rachel L., Robinson, David B., Savage, Peter, Scambler, Stephan, Schiffel, Miriam, Schmidt, Nadia, Schoenmaker, Richard H., Scott, Robert A., Scott, Robert K., Semple, Eva, Serra, Sally I., Sharp, Adam, Shaw, Hashem A., Shihab, So Youn, Shin, David, Skuse, Kerrin S., Small, Carol, Smee, George Davey, Smith, Lorraine, Southam, Olivera Spasic, Boskovic, Timothy D., Spector, David St, Clair, Beate St, Pourcain, Jim, Stalker, Elizabeth, Steven, Jianping, Sun, Gabriela, Surdulescu, Jaana, Suvisaari, Petros, Syrri, Ioanna, Tachmazidou, Rohan, Taylor, Jing, Tian, Martin D., Tobin, Daniela, Toniolo, Michela, Traglia, Anne Tybjaerg, Hansen, Ana M., Valde, Anthony M., Vandersteen, Anette, Varbo, Parthiban, Vijayarangakannan, Peter M., Visscher, Louise V., Wain, James T. R., Walter, Guangbiao, Wang, Jun, Wang, Yu, Wang, Kirsten, Ward, Eleanor, Wheeler, Peter, Whincup, Tamieka, Whyte, Hywel J., William, Kathleen A., Williamson, Crispian, Wilson, Scott G., Wilson, Kim, Wong, Changjiang, Xu, Jian, Yang, Gianluigi, Zaza, Eleftheria, Zeggini, Feng, Zhang, Pingbo, Zhang, Weihua, Zhang, Giovanni, Gambaro, J., Brent Richard, Richard, Durbin, Nicholas J., Timpson, Jonathan, Marchini, Nicole, Soranzo

المصدر: Nature Communications, 6, 8111
Nature Communications, 6, pp. 8111
Nature Communications
Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H-F, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J & Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, pp. 8111 . https://doi.org/10.1038/ncomms9111
Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H, Al Turki, S, Amuzu, A, Anderson, C A, Anney, R, Antony, D, Artigas, M S, Ayub, M, Bala, S, Barrett, J C, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P F, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Pablo Casas, J, Chambers, J C, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D A, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, I N M, Day-williams, A, Dedoussis, G, Down, T, Du, Y, Van Duijn, C M, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, D M, Farooqi, I S, Fitzpatrick, D R, Flicek, P, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Gallagher, L, Gasparini, P, Gaunt, T R, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Guo, X, Gurling, H, Hart, D, Hendricks, A E, Holmans, P, Huang, L, Hubbard, T, Humphries, S E, Hurles, M E, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, D K, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, K J, Kaye, J, Keane, T, Kemp, J P, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, M E, Van Kogelenberg, M, Kolb-kokocinski, A, Kooner, J S, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, Van Leeuwen, E M, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, L R, Lopes, M, Luan, J, Macarthur, D G, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, A M, Mckechanie, A G, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, H M, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, B, Northstone, K, O'donovan, M C, O'rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, M J, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, J R, Paternoster, L, Paunio, T, Payne, F, Payne, S J, Perry, J R B, Pietilainen, O, Plagnol, V, Pollitt, R C, Povey, S, Quail, M A, Quaye, L, Raymond, L, Rehnström, K, Ridout, C K, Ring, S, Ritchie, G R S, Roberts, N, Robinson, R L, Savage, D B, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, R H, Scott, R A, Semple, R K, Serra, E, Sharp, S I, Shaw, A, Shihab, H A, Shin, S, Skuse, D, Small, K S, Smee, C, Smith, G D, Southam, L, Spasic-boskovic, O, Spector, T D, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, M D, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, Valdes, A M, Vandersteen, A M, Varbo, A, Vijayarangakannan, P, Visscher, P M, Wain, L V, Walters, J T R, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, H J, Williamson, K A, Wilson, C, Wilson, S G, Wong, K, Xu, C, Yang, J, Zaza, G, Zeggini, E, Zhang, F, Zhang, P, Zhang, W, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J, Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, 8111 . https://doi.org/10.1038/ncomms9111

مصطلحات موضوعية: Computer science, General Physics and Astronomy, Genome-wide association study, 0302 clinical medicine, Gene Frequency, Haplotype, Genetics,Biological sciences, Settore MED/14 - NEFROLOGIA, Aged, 80 and over, Genetics, 0303 health sciences, education.field_of_study, Multidisciplinary, TWINSUK, Middle Aged, single-nucleotide polymorphism, Whole-genome sequencing, WGS imputation panel, single-nucleotide polymorphism, Biological sciences, Italy, MAP, Adult, Adolescent, Genotype, WGS imputation panel, Population, Single-nucleotide polymorphism, FORMAT, Computational biology, GENOTYPE IMPUTATION, Polymorphism, Single Nucleotide, Article, White People, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, Humans, GENOME-WIDE ASSOCIATION, 1000 Genomes Project, education, Allele frequency, Alleles, Aged, 030304 developmental biology, Whole-genome sequencing, Models, Statistical, Models, Genetic, Genome, Human, Genetic Variation, General Chemistry, United Kingdom, Minor allele frequency, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Haplotypes, 3111 Biomedicine, 030217 neurology & neurosurgery, Imputation (genetics)

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95b9da2183aba8a33d77fef6e097ebb
http://hdl.handle.net/2066/153109

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المؤلفون: Balasubramanian M; Highly Specialised Severe, Complex & Atypical OI Service, Sheffield Children's NHS Foundation Trust, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Fratzl-Zelman N; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1st Med. Dept. Hanusch Hospital, 1140 Vienna, Austria., O'Sullivan R; Medical School, University of Sheffield, UK., Bull M; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK., Fa Peel N; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK., Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Jones R; Department of Psychology, Sheffield Children's NHS Foundation Trust, UK., Milne E; Department of Psychology, University of Sheffield, UK., Smith K; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Roschger P; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1st Med. Dept. Hanusch Hospital, 1140 Vienna, Austria., Klaushofer K; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1st Med. Dept. Hanusch Hospital, 1140 Vienna, Austria., Bishop NJ; Academic Unit of Child Health, University of Sheffield, UK.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Jul; Vol. 176 (7), pp. 1578-1586. Date of Electronic Publication: 2018 May 07.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Calcification, Physiologic* , Mutation*, Genetic Diseases, X-Linked/*genetics , Membrane Glycoproteins/*genetics , Microfilament Proteins/*genetics , Osteoporosis/*genetics, Adolescent ; Adult ; Female ; Genetic Diseases, X-Linked/pathology ; Humans ; Male ; Osteoporosis/pathology ; Pedigree ; Phenotype ; Prognosis

المؤلفون: Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Highly Specialised Service for Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Padidela R; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Pollitt RC; Academic Unit of Child Health, University of Sheffield, Sheffield, UK.; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Bishop NJ; Academic Unit of Child Health, University of Sheffield, Sheffield, UK., Mughal MZ; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Offiah AC; Academic Unit of Child Health, University of Sheffield, Sheffield, UK., Wagner BE; Department of Histopathology, Royal Hallamshire Hospital, Sheffield, UK., McCaughey J; Cell Biology Laboratories, School of Biochemistry, University of Bristol, Bristol, UK., Stephens DJ; Cell Biology Laboratories, School of Biochemistry, University of Bristol, Bristol, UK.

المصدر: Journal of medical genetics [J Med Genet] 2018 Mar; Vol. 55 (3), pp. 158-165. Date of Electronic Publication: 2017 Dec 20.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses/*genetics , Eye Abnormalities/*genetics , Hydrocephalus/*genetics , Osteogenesis Imperfecta/*genetics , Procollagen-Proline Dioxygenase/*genetics , Protein Disulfide-Isomerases/*genetics, Child, Preschool ; Craniosynostoses/physiopathology ; Eye Abnormalities/physiopathology ; Female ; Genotype ; Heterozygote ; Humans ; Hydrocephalus/physiopathology ; Mutation, Missense/genetics ; Osteogenesis Imperfecta/pathology ; Osteogenesis Imperfecta/physiopathology ; Pedigree ; Phenotype

SCR Disease Name: Cole Carpenter syndrome

المؤلفون: Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland., Baumann M; Department of Pediatrics I, Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Lindert U; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland., Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Brady AF; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Collins J; Mercy Clinic Pediatric Neurology, Springfield, Missouri, and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Dastgir J; Pediatric Neurology, Goryeb Children's Hospital, Morristown, New Jersey, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Ghali N; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Johnson DS; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Koch J; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Kraenzlin M; Medical Faculty of the University of Basel, and Clinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, Basel, Switzerland., Lahiri N; South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, UK., Lozic B; Department of Pediatrics University Hospital Centre Split, Split, Croatia., Manzur AY; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK., Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland., Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Schreiber G; Department of Pediatric Neurology, Children's Hospital, Kassel, Germany., Shannon NL; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK., Sobey G; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., van Dijk FS; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Witsch-Baumgartner M; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Pope FM; North West Thames Regional Genetics Service, Kennedy Galton Centre, London, UK., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Rohrbach M; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Jan; Vol. 20 (1), pp. 42-54. Date of Electronic Publication: 2017 Jun 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Alleles* , Genetic Association Studies* , Mutation* , Phenotype*, Ehlers-Danlos Syndrome/*diagnosis , Ehlers-Danlos Syndrome/*genetics , Peptidylprolyl Isomerase/*genetics, Child ; Child, Preschool ; Chromosome Mapping ; Cohort Studies ; DNA Mutational Analysis ; Female ; Humans ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Male

المؤلفون: Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK; Highly Specialised Service for Severe, Complex and Atypical OI, UK. Electronic address: meena.balasubramanian@nhs.net., Hurst J; NE Thames Clinical Genetics Service, Great Ormond Street Hospital, UK., Brown S; Sheffield RNAi Screening Facility, Department of Biomedical Sciences, University of Sheffield, UK., Bishop NJ; Highly Specialised Service for Severe, Complex and Atypical OI, UK; Academic Unit of Child Health, University of Sheffield, UK., Arundel P; Highly Specialised Service for Severe, Complex and Atypical OI, UK., DeVile C; Highly Specialised Service for Severe, Complex and Atypical OI, UK., Pollitt RC; Academic Unit of Child Health, University of Sheffield, UK; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Crooks L; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK; Department of Biosciences and Chemistry, Sheffield Hallam University, UK., Longman D; MRC Human Genetics Unit, IGMM, University of Edinburgh, UK., Caceres JF; MRC Human Genetics Unit, IGMM, University of Edinburgh, UK., Shackley F; Department of Paediatric Immunology, Sheffield Children's NHS Foundation Trust, UK., Connolly S; Department of Paediatric Hepatology, Sheffield Children's NHS Foundation Trust, UK., Payne JH; Department of Paediatric Haematology, Sheffield Children's NHS Foundation Trust, UK., Offiah AC; Highly Specialised Service for Severe, Complex and Atypical OI, UK; Academic Unit of Child Health, University of Sheffield, UK., Hughes D; Department of Histopathology, Sheffield Teaching Hospitals NHS Foundation Trust, UK., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Hide W; Centre for Computational Biology, Sheffield Institute of Translational Neuroscience, University of Sheffield, UK., Skerry TM; Mellanby Bone Research Centre, Department of Oncology & Metabolism, University of Sheffield, UK.

مؤلفون مشاركون: DDD Study; DDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

المصدر: Bone [Bone] 2017 Jan; Vol. 94, pp. 65-74. Date of Electronic Publication: 2016 Oct 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

مواضيع طبية MeSH: Mutation/*genetics , Neoplasm Proteins/*genetics , Osteogenesis Imperfecta/*genetics, Base Sequence ; Cells, Cultured ; Child ; Child, Preschool ; Fibroblasts/pathology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Neoplasm Proteins/chemistry ; Osteogenesis Imperfecta/diagnostic imaging ; Protein Domains ; Skin/pathology ; Skin/ultrastructure

المؤلفون: Marshall C; Medical School, University of Sheffield, UK., Lopez J; Genetics Department, Centenario Hospital Miguel Hidalgo, Aguascalientes, Mexico; Neonatology Department, Hospital de la Mujer, Aguascalientes, Mexico., Crookes L; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, UK., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK; Highly Specialised Severe, Complex & Atypical OI Service, Sheffield Children's NHS Foundation Trust, UK. Electronic address: meena.balasubramanian@nhs.net.

المصدر: Gene [Gene] 2016 Dec 20; Vol. 595 (1), pp. 49-52. Date of Electronic Publication: 2016 Sep 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Base Sequence* , Exons* , Homozygote* , Sequence Deletion*, HSP47 Heat-Shock Proteins/*genetics , Hydranencephaly/*genetics , Osteogenesis Imperfecta/*genetics, Adolescent ; Female ; Humans ; Hydranencephaly/pathology ; Infant, Newborn ; Male ; Osteogenesis Imperfecta/pathology

SCR Disease Name: Osteogenesis imperfecta, type 2A

المؤلفون: Marshall CJ; Medical School, University of Sheffield, Sheffield, United Kingdom., Arundel P; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Academic Unit of Child Health, University of Sheffield, Sheffield, United Kingdom., Mushtaq T; Department of Paediatric Endocrinology, Leeds Teaching Hospitals, Leeds, United Kingdom., Offiah AC; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Academic Unit of Child Health, University of Sheffield, Sheffield, United Kingdom., Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Bishop NJ; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Academic Unit of Child Health, University of Sheffield, Sheffield, United Kingdom., Balasubramanian M; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3303-3307. Date of Electronic Publication: 2016 Aug 23.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Heterozygote* , Mutation*, Collagen Type I/*genetics , Osteochondrodysplasias/*diagnosis , Osteochondrodysplasias/*genetics , Osteogenesis Imperfecta/*diagnosis , Osteogenesis Imperfecta/*genetics, Alleles ; Amino Acid Substitution ; Child, Preschool ; Collagen Type I, alpha 1 Chain ; Facies ; Genetic Association Studies ; Genetic Testing ; Humans ; Male ; Phenotype ; Physical Examination ; Radiography