换一批Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
第一作者：
Crow, Yanick J.
作者：
Crow, Yanick J. [1]
;
Chase, Diana S. [2]
;
Schmidt, Johanna Lowenstein [3]
;
Szynkiewicz, Marcin [4]
;
Forte, Gabriella M. A. [5]
;
Gornall, Hannah L. [6]
;
Oojageer, Anthony [7]
;
Anderson, Beverley [8]
;
Pizzino, Amy [9]
;
Helman, Guy [10]
;
Abdel-Hamid, Mohamed S. [11]
;
Abdel-Salam, Ghada M. [12]
;
Ackroyd, Sam [13]
;
Aeby, Alec [14]
;
Agosta, Guillermo [15]
;
Albin, Catherine [16]
;
Allon-Shalev, Stavit [17]
;
Arellano, Montse [18]
;
Ariaudo, Giada [19]
;
Aswani, Vijay [20]
;
Babul-Hirji, Riyana [21]
;
Baildam, Eileen M. [22]
;
Bahi-Buisson, Nadia [23]
;
Bailey, Kathryn M. [24]
;
Barnerias, Christine [25]
;
Barth, Magalie [26]
;
Battini, Roberta [27]
;
Beresford, Michael W. [28]
;
Bernard, Genevieve [29]
;
Bianchi, Marika [30]
;
de Villemeur, Thierry Billette [31]
;
Blair, Edward M. [32]
;
Bloom, Miriam [33]
;
Burlina, Alberto B. [34]
;
Carpanelli, Maria Luisa [35]
;
Carvalho, Daniel R. [36]
;
Castro-Gago, Manuel [37]
;
Cavallini, Anna [38]
;
Cereda, Cristina [39]
;
Chandler, Kate E. [40]
;
Chitayat, David A. [41]
;
Collins, Abigail E. [42]
;
Sierra Corcoles, Concepcion [43]
;
Cordeiro, Nuno J. V. [44]
;
Crichiutti, Giovanni [45]
;
Dabydeen, Lyvia [46]
;
Dale, Russell C. [47]
;
D'Arrigo, Stefano [48]
;
De Goede, Christian G. E. L. [49]
;
De Laet, Corinne [50]
;
De Waele, Liesbeth M. H. [51]
;
Denzler, Ines [52]
;
Desguerre, Isabelle [53]
;
Devriendt, Koenraad [54]
;
Di Rocco, Maja [55]
;
Fahey, Michael C. [56]
;
Fazzi, Elisa [57]
;
Ferrie, Colin D. [58]
;
Figueiredo, Antonio [59]
;
Gener, Blanca [60]
;
Goizet, Cyril [61]
;
Gowrinathan, Nirmala R. [62]
;
Gowrishankar, Kalpana [63]
;
Hanrahan, Donncha [64]
;
Isidor, Bertrand [65]
;
Kara, Lent [66]
;
Khan, Nasaim [67]
;
King, Mary D. [68]
;
Kirk, Edwin P. [69]
;
Kumar, Ram [70]
;
Lagae, Lieven [71]
;
Landrieu, Pierre [72]
;
Lauffer, Heinz [73]
;
Laugel, Vincent [74]
;
La Piana, Roberta [75]
;
Lim, Ming J. [76]
;
Lin, Jean-Pierre S. -M. [77]
;
Linnankivi, Tarja [78]
;
Mackay, Mark T. [79]
;
Marom, Daphna R. [80]
;
Lourenco, Charles Marques [81]
;
McKee, Shane A. [82]
;
Moroni, Isabella [83]
;
Morton, Jenny E. V. [84]
;
Moutard, Marie-Laure [85]
;
Murray, Kevin [86]
;
Nabbout, Rima [87]
;
Nampoothiri, Sheela [88]
;
Nunez-Enamorado, Noemi [89]
;
Oades, Patrick J. [90]
;
Olivieri, Ivana [91]
;
Ostergaard, John R. [92]
;
Perez-Duenas, Belen [93]
;
Prendiville, Julie S. [94]
;
Ramesh, Venkateswaran [95]
;
Rasmussen, Magnhild [96]
;
Regal, Luc [97]
;
Ricci, Federica [98]
;
Rio, Marlene [99]
;
Rodriguez, Diana [100]
;
Roubertie, Agathe [101]
;
Salvatici, Elisabetta [102]
;
Segers, Karin A. [103]
;
Sinha, Gyanranjan P. [104]
;
Soler, Doriette [105]
;
Spiegel, Ronen [106]
;
Stoedberg, Tommy I. [107]
;
Straussberg, Rachel [108]
;
Swoboda, Kathryn J. [109]
;
Suri, Mohnish [110]
;
Tacke, Uta ;
Tan, Tiong Y. ;
Naude, Johann te Water ;
Teik, Keng Wee ;
Thomas, Maya Mary ;
Till, Marianne ;
Tonduti, Davide ;
Valente, Enza Maria ;
Van Coster, Rudy Noel ;
van der Knaap, Marjo S. ;
Vassallo, Grace ;
Vijzelaar, Raymon ;
Vogt, Julie ;
Wallace, Geoffrey B. ;
Wassmer, Evangeline ;
Webb, Hannah J. ;
Whitehouse, William P. ;
Whitney, Robyn N. ;
Zaki, Maha S. ;
Zuberi, Sameer M. ;
Livingston, John H. ;
Rozenberg, Flore ;
Lebon, Pierre ;
Vanderver, Adeline ;
Orcesi, Simona ;
Rice, Gillian I.
作者单位：
Kings Hlth Partners AHSC, Evelina London Childrens Hosp, Dept Childrens Neurosci, London, England
[1]
Kocaeli Univ, Fac Med, Dept Pediat, Dept Paediat Neurol, Kocaeli, Turkey
[2]
Univ Queensland, Mater Childrens Hosp, Dept Neurosci, Brisbane, Qld 4101, Australia
[3]
Univ Barcelona, Dept Paediat Neurol, Hosp St Joan de Deu, Barcelona, Spain
[4]
Univ Liverpool, Inst Translat Med, Dept Womens & Childrens Hlth, Liverpool L69 3BX, Merseyside
[5]
Hop Gui de Chauliac, Montpellier, France
[6]
Univ Sydney, Inst Neurosci & Muscle Res, Childrens Hosp Westmead, Sydney, NSW 2006, Australia
[7]
Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England
[8]
Univ Hosp, Div Inherited Metab Dis, Dept Pediat, Padua, Italy
[9]
Univ Leuven, Ctr Human Genet, Leuven, Belgium
[10]
Ctr Hosp Univ Liege, Dept Human Genet, Liege, Belgium
[11]
Univ Hosp Ghent, Div Pediat Neurol, Dept Pediat, Ghent, Belgium
[12]
Univ Santiago de Compostela, Hosp Clin Univ, Dept Pediat Neurol, Santiago De Compostela, Spain
[13]
Strasbourg Hautepierre Univ Hosp, Dept Paediat Neurol, Strasbourg, France
[14]
Univ Milan, San Paolo Hosp, Dept Pediat, Milan, Italy
[15]
Natl Res Ctr, Human Genet & Genome Res Div, Med Mol Genet Dept, Cairo, Egypt
[16]
Alder Hey Childrens NHS Fdn Trust, Dept Paediat Neurol, Liverpool, Merseyside, England
[17]
IRCCS Eugenio Medea, Inst Sci, Neuropsychiat & Neurorehabil Unit, Bosisio Parini, Italy
[18]
IRCCS Stella Maris, Dept Dev Neurosci, Pisa, Italy
[19]
Univ Toronto, Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Dept Obstet & Gynecol, Toronto, ON
[20]
CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France
[21]
Azienda Osped Univ Udine, Dept Paediat, Udine, Italy
[22]
Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia
[23]
Temple St Childrens Univ Hosp, Dept Paediat Neurol, Dublin, Eire, Ireland
[24]
Belfast City Hosp, Dept Med Genet, Belfast BT9 7AD, Antrim, North Ireland
[25]
C Mondino Natl Neurol Inst, Child Neurol & Psychiat Unit, I-27100 Pavia, Italy
[26]
Christian Med Coll & Hosp, Dept Neurol Sci, Vellore, Tamil Nadu, India
[27]
Univ Pavia, Dept Brain & Behav Sci, Child Neurol & Psychiat Unit, I-27100 Pavia, Italy
[28]
Kaiser Permanente, Dept Neurol, Los Angeles, CA USA
[29]
Royal Childrens Hosp, Dept Paediat Neurol, Melbourne, Vic, Australia
[30]
Univ Sao Paulo, Neurogenet Unit, Clin Hosp Ribeirao Preto, Sao Paulo, Brazil
[31]
Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
[32]
Karolinska Univ Hosp, Dept Paediat Neurol, Stockholm, Sweden
[33]
Kaiser Permanente, Dept Pediat Neurol, Santa Clara, CA USA
[34]
Ku Leuven Kulak, Dept Paediat Neurol, Univ Hosp Leuven, Kortrijk, Belgium
[35]
Univ Utah, Sch Med, Neurol Pediat Motor Disorders Res Program, Salt Lake City, UT USA
[36]
Univ Melbourne, Dept Paediat, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic
[37]
Tel Aviv Univ, Sackler Sch Med, Schneiders Children Med Ctr, IL-69978 Tel Aviv, Israel
[38]
Hosp Univ Mutua Terrassa, Dept Pediat Neurol, Barcelona, Spain
[39]
NHS Ayrshire & Arran, Dept Paediat, Irvine, North Ayrshire, Scotland
[40]
Univ Paris 05, Serv Virol, Inserm U1016, Paris, France
[41]
George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA
[42]
Univ Hosp Leuven, Dept Pediat Metab Disorders, Leuven, Belgium
[43]
Hop Necker Enfants Malad, AP HP, Dept Paediat Neurol, Paris, France
[44]
Univ Wales Hosp, Dept Child Hlth, Cardiff, Wales
[45]
Royal Preston Hosp, Dept Paediat Neurol, Preston, Lancs, England
[46]
British Columbia Childrens Hosp, Dept Pediat Dermatol, Vancouver, BC, Canada
[47]
Hop Necker Enfants Malad, AP HP, Serv Genet, Paris, France
[48]
Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, Gen Neurol & Complex Motor Disorders Serv
[49]
IRCCS Casa Sollievo Sofferenza Inst, Mendel Lab, San Giovanni Rotondo, Italy
[50]
IRCCS Fdn Ist Neurol C Besta, Child Neurol Dept, Milan, Italy
[51]
McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Pediat,Div Pediat Neurol, Montreal, PQ H3H 1P3
[52]
Univ Colorado, Childrens Hosp Colorado, Dept Pediat & Neurol, Boulder, CO 80309 USA
[53]
Birmingham Childrens Hosp, Dept Paediat Neurol, Birmingham, W Midlands, England
[54]
Kanchi Kamakoti Childs Trust Hosp, Dept Med Genet, Chennai, Tamil Nadu, India
[55]
Hosp Univ Cruces, BioCruces Hlth Res Inst, Serv Genet, Baracaldo, Spain
[56]
CHU Bicetre, Le Kremlin Bicetre, France
[57]
Schneider Childrens Med Ctr Israel, Dept Paediat, Petah Tiqwa, Israel
[58]
Regina Margherita Children Hosp, Dept Publ Hlth & Pediat Sci, Child Neurol & Psychiat Unit, Turin
[59]
Nottingham Univ Hosp NHS Trust, Dept Paediat Neurol, Nottingham, England
[60]
MRC Holland, Amsterdam, Netherlands
[61]
Univ Childrens Hosp, Dept Paediat Neurol, Basel, Switzerland
[62]
Hosp Civils Lyon, GHE, Serv Genet, Lyon, France
[63]
Paris Descartes Sorbonne Paris Cite Univ, Lab Neurogenet & Neuroinflammat, Hop Necker, INSERM UMR
[64]
Alder Hey Childrens Natl Hlth Serv NHS Fdn Trust, Dept Paediat Rheumatol, Liverpool, Merseyside
[65]
McGill Univ, Montreal Neurol Inst & Hosp, Dept Neuroradiol, Montreal, PQ, Canada
[66]
Manor Hosp, Dept Pediat, Walsall, W Midlands, England
[67]
Marshfield Clin Fdn Med Res & Educ, Dept Internal Med & Pediat, Marshfield, MA USA
[68]
Univ Hosp Leicester NHS Trust, Childrens Dept, Leicester, Leics, England
[69]
Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford, England
[70]
Complejo Hospitalario Jaen, Dept Paediat Neurol, Jaen, Spain
[71]
Hop Univ Enfants Reine Fabiola, Nutr & Metab Unit, Brussels, Belgium
[72]
Univ Helsinki, Cent Hosp, Childrens Hosp, Dept Paediat Neurol, Helsinki, Finland
[73]
Paediat Neurosci Res Grp, Fraser Allander Neurosci Unit, Glasgow, Lanark, Scotland
[74]
Aarhus Univ Hosp, Ctr Rare Dis, Dept Pediat, DK-8000 Aarhus, Denmark
[75]
C Mondino Natl Neurol Inst, Lab Expt Neurobiol, I-27100 Pavia, Italy
[76]
Mater Dei Hosp, Dept Paediat Neurol, Msida, Malta
[77]
Hosp Italiano Buenos Aires, Child Neurol Div, Buenos Aires, Argentina
[78]
Univ Brescia, Child Neurol & Psychiat Unit, Dept Clin & Expt Sci, Brescia, Italy
[79]
Great Northern Childrens Hosp, Dept Paediat Neurol, Newcastle Upon Tyne, Tyne & Wear, England
[80]
Emek Med Ctr, Genet Inst, Afula, Israel
[81]
EPE, Hosp Prof Doutor Fernando Fonseca, Dept Paediat, Lisbon, Portugal
[82]
St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 0JH, Lancs, England
[83]
Inst Gaslini, Dept Pediat, Unit Rare Dis, Genoa, Italy
[84]
Monash Univ, Dept Paediat, Melbourne, Vic 3004, Australia
[85]
Princess Margaret Hosp Children, Dept Rheumatol, Perth, WA, Australia
[86]
Ernst Moritz Arndt Univ Greifswald, Childrens Hosp, Dept Neuroped, Greifswald, Germany
[87]
Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Dept Mol Genet, Toronto, ON M5G 1X8
[88]
SARAH Network Rehabil Hosp, Genet Unit, Brasilia, DF, Brazil
[89]
Univ Libre Bruxelles, Hop Erasme, Dept Neuropediat, Brussels, Belgium
[90]
CHU Angers, Dept Genet, Angers, France
[91]
Royal Belfast Hosp Sick Children, Dept Paediat Neurol, Belfast, Antrim, North Ireland
[92]
Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham, W Midlands, England
[93]
Bradford Teaching Hosp NHS Trust, St Lukes Hosp, Child Dev Ctr, Bradford, W Yorkshire, England
[94]
Univ Hosp Coventry, Dept Paediat, Coventry, W Midlands, England
[95]
Royal Devon & Exeter Fdn NHS Trust, Dept Child Hlth, Exeter, Devon, England
[96]
Univ Manchester, Manchester Ctr Genom Med, Inst Human Dev, Fac Med & Human Sci,Manchester Acad Hlth
[97]
Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia
[98]
Vrije Univ Amsterdam Med Ctr, Dept Paediat Neurol, Amsterdam, Netherlands
[99]
Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, Nottingham, England
[100]
Univ Paris 06, Univ Paris 04, Paris, France
[101]
Bradford Royal Infirm, Dept Haematol, Bradford BD9 6RJ, W Yorkshire, England
[102]
Oslo Univ Hosp, Sect Child Neurol, Women & Childrens Div, Oslo, Norway
[103]
12 October Univ Hosp, Dept Paediat Neurol, Madrid, Spain
[104]
A Manzoni Hosp, Dept Child Neurol & Psychiat, Lecce, Italy
[105]
George Washington Univ, Sch Med, Div Hospitalist Med, Childrens Natl Hlth Syst, Washington, DC USA
[106]
Hop Pellegrin, CHU Bordeaux, Dept Med Genet, F-33076 Bordeaux, France
[107]
McMaster Univ, McMaster Childrens Hosp, Div Pediat Neurol, Dept Pediat, Hamilton, ON L8S 4L8, Canada
[108]
Royal Manchester Childrens Hosp, Dept Paediat Neurol, Manchester M27 1HA, Lancs, England
[109]
Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, India
[110]
发布时间
2015-05-10
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American journal of medical genetics, Part A
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