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Outcome of Tetralogy of Fallot Through Initial Palliation and Surgical Repair 法洛四联症经初始姑息治疗和手术修复的结局 Giacobbe, Miriam; Vigneswaran, Trisha V.; Desouza, Shuwayne; Witter, Thomas; Mansour, Sahar; Austin, Conal; Jones, Mathew; Rosenthal, Eric; Qureshi, Shakeel A.; Simpson, John M.; Zidere, Vita 分享 收藏
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis Wai, Htoo A.; Constable, Matthew; Drewes, Cosima; Davies, Ian C.; Svobodova, Eliska; Dempsey, Esther; Saggar, Anand; Homfray, Tessa; Mansour, Sahar; Douzgou, Sofia; Barr, Kate; Scott, Stephanie; Hunt, David; Douglas, Andrew G. L.; Baralle, Diana 分享 收藏
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Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP MacKenzie, Katherine C.; de Graaf, Bianca M.; Syrimis, Andreas; Zhao, Yuying; Brosens, Erwin; Mancini, Grazia M. S.; Schot, Rachel; Halley, Dicky; Wilke, Martina; Vollo, Arve; Flinter, Frances; Green, Andrew; Mansour, Sahar; Pilch, Jacek; Stark, Zornitza; Zamba-Papanicolaou, Eleni; Christophidou-Anastasiadou, Violetta; Hofstra, Robert M. W.; Jongbloed, Jan D. H.; Nicolaou, Nayia; Tanteles, George A.; Brooks, Alice S.; Alves, Maria M. 分享 收藏
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Loennqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana 分享 收藏
Clinical and molecular consequences of disease-associated de novo mutations in SATB2 Bengani, Hemant; Handley, Mark; Alvi, Mohsan; Ibitoye, Rita; Lees, Melissa; Lynch, Sally Ann; Lam, Wayne; Fannemel, Madeleine; Nordgren, Ann; Malmgren, H.; Kvarnung, M.; Mehta, Sarju; McKee, Shane; Whiteford, Margo; Stewart, Fiona; Connell, Fiona; Clayton-Smith, Jill; Mansour, Sahar; Mohammed, Shehla; Fryer, Alan; Morton, Jenny; Grozeva, Detelina; Asam, Tara; Moore, David; Sifrim, Alejandro; McRae, Jeremy; Hurles, Matthew E.; Firth, Helen V.; Raymond, F. Lucy; Kini, Usha; Nellaker, Christoffer; FitzPatrick, David R. 分享 收藏
Mosaic structural variation in children with developmental disorders King, Daniel A.; Jones, Wendy D.; Crow, Yanick J.; Dominiczak, Anna F.; Foster, Nicola A.; Gaunt, Tom R.; Harris, Jade; Hellens, Stephen W.; Homfray, Tessa; Innes, Josie; Jones, Elizabeth A.; Joss, Shelagh; Kulkarni, Abhijit; Mansour, Sahar; Morris, Andrew D.; Parker, Michael J.; Porteous, David J.; Shihab, Hashem A.; Smith, Blair H.; Tatton-Brown, Katrina; Tolmie, John L.; Trzaskowski, Maciej; Vasudevan, Pradeep C.; Wakeling, Emma; Wright, Michael; Plomin, Robert; Timpson, Nicholas J.; Hurles, Matthew E. 分享 收藏
Myhre and LAPS syndromes: clinical and molecular review of 32 patients (vol 22, pg 1272, 2014) Michot, Caroline; Le Goff, Carine; Mahaut, Clementine; Afenjar, Alexandra; Brooks, Alice S.; Campeau, Philippe M.; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sebastien; Kannu, Peter; Lin, Angela E.; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marlene; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R.; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valerie 分享 收藏
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M.; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hulya; Avci, Sahin; Hennekam, Raoul C. M.; Lampe, Anne K.; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Smeland, Marie Falkenberg; Mansour, Sahar; Parker, Michael J.; Cook, Jacqueline A.; Splitt, Miranda; Fisher, Richard B.; Fryer, Alan; Magee, Alex C.; Wilkie, Andrew; Barnicoat, Angela; Brady, Angela F.; Cooper, Nicola S.; Mercer, Catherine; Deshpande, Charu; Bennett, Christopher P.; Pilz, Daniela T.; Ruddy, Deborah; Cilliers, Deirdre; Johnson, Diana S.; Josifova, Dragana; Rosser, Elisabeth; Thompson, Elizabeth M.; Wakeling, Emma; Kinning, Esther; Stewart, Fiona; Flinter, Frances; Girisha, Katta M.; Cox, Helen; Firth, Helen V.; Kingston, Helen; Wee, Jamie S.; Hurst, Jane A.; Clayton-Smith, Jill; Tolmie, John; Vogt, Julie; Tatton-Brown, Katrina; Chandler, Kate; Prescott, Katrina; Wilson, Louise; Behnam, Mahdiyeh; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally-Ann; Sisodiya, Sanjay; Mehta, Sarju G.; McKee, Shane A.; Mohammed, Shehla; Holden, Simon; Park, Soo-Mi; Holder, Susan E.; Harrison, Victoria; McConnell, Vivienne; Lam, Wayne K.; Green, Andrew J.; Donnai, Dian; Bitner-Glindzicz, Maria; Donnelly, Deirdre E.; Nellaker, Christoffer; Taylor, Martin S.; FitzPatrick, David R. 分享 收藏
Hypomorphic PCNA mutation underlies a human DNA repair disorder Baple, Emma L.; Chambers, Helen; Cross, Harold E.; Fawcett, Heather; Nakazawa, Yuka; Chioza, Barry A.; Harlalka, Gaurav V.; Mansour, Sahar; Sreekantan-Nair, Ajith; Patton, Michael A.; Muggenthaler, Martina; Rich, Phillip; Wagner, Karin; Coblentz, Roselyn; Stein, Constance K.; Last, James I.; Taylor, A. Malcolm R.; Jackson, Andrew P.; Ogi, Tomoo; Lehmann, Alan R.; Green, Catherine M.; Crosby, Andrew H. 分享 收藏
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome Schepers, Dorien; Doyle, Alexander J.; Oswald, Gretchen; Sparks, Elizabeth; Myers, Loretha; Willems, Patrick J.; Mansour, Sahar; Simpson, Michael A.; Frysira, Helena; Maat-Kievit, Anneke; Van Minkelen, Rick; Hoogeboom, Jeanette M.; Mortier, Geert R.; Titheradge, Hannah; Brueton, Louise; Starr, Lois; Stark, Zornitza; Ockeloen, Charlotte; Lourenco, Charles Marques; Blair, Ed; Hobson, Emma; Hurst, Jane; Maystadt, Isabelle; Destree, Anne; Girisha, Katta M.; Miller, Michelle; Dietz, Harry C.; Loeys, Bart; Van Laer, Lut 分享 收藏
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Koehler, Sebastian; Doelken, Sandra C.; Mungall, Christopher J.; Bauer, Sebastian; Firth, Helen V.; Bailleul-Forestier, Isabelle; Black, Graeme C. M.; Brown, Danielle L.; Brudno, Michael; Campbell, Jennifer; FitzPatrick, David R.; Eppig, Janan T.; Jackson, Andrew P.; Freson, Kathleen; Girdea, Marta; Helbig, Ingo; Hurst, Jane A.; Jaehn, Johanna; Jackson, Laird G.; Kelly, Anne M.; Ledbetter, David H.; Mansour, Sahar; Martin, Christa L.; Moss, Celia; Mumford, Andrew; Ouwehand, Willem H.; Park, Soo-Mi; Riggs, Erin Rooney; Scott, Richard H.; Sisodiya, Sanjay; Van Vooren, Steven; Wapner, Ronald J.; Wilkie, Andrew O. M.; Wright, Caroline F.; Vulto-van Silfhout, Anneke T.; de Leeuw, Nicole; de Vries, Bert B. A.; Washingthon, Nicole L.; Smith, Cynthia L.; Westerfield, Monte; Schofield, Paul; Ruef, Barbara J.; Gkoutos, Georgios V.; Haendel, Melissa; Smedley, Damian; Lewis, Suzanna E.; Robinson, Peter N. 分享 收藏
Mutations in PIK3R1 Cause SHORT Syndrome Dyment, David A.; Smith, Amanda C.; Alcantara, Diana; Schwartzentruber, Jeremy A.; Basel-Vanagaite, Lina; Curry, Cynthia J.; Temple, I. Karen; Reardon, William; Mansour, Sahar; Haq, Mushfequr R.; Gilbert, Rodney; Lehmann, Ordan J.; Vanstone, Megan R.; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O'Driscoll, Mark; Boycott, Kym M.; Innes, A. Micheil 分享 收藏
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling Hanson, D.; Murray, P. G.; Coulson, T.; Sud, A.; Omokanye, A.; Stratta, E.; Sakhinia, F.; Bonshek, C.; Wilson, L. C.; Wakeling, E.; Temtamy, S. A.; Aglan, M.; Rosser, E. M.; Mansour, S.; Carcavilla, A.; Nampoothiri, S.; Khan, W. I.; Banerjee, I.; Chandler, K. E.; Black, G. C. M.; Clayton, P. E. 分享 收藏
Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome Clayton-Smith, Jill; O'Sullivan, James; Daly, Sarah; Bhaskar, Sanjeev; Day, Ruth; Anderson, Beverley; Voss, Anne K.; Thomas, Tim; Biesecker, Leslie G.; Smith, Philip; Fryer, Alan; Chandler, Kate E.; Kerr, Bronwyn; Tassabehji, May; Lynch, Sally-Ann; Krajewska-Walasek, Malgorzata; McKee, Shane; Smith, Janine; Sweeney, Elizabeth; Mansour, Sahar; Mohammed, Shehla; Donnai, Dian; Black, Graeme 分享 收藏
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia Allali, Slimane; Le Goff, Carine; Pressac-Diebold, Isabelle; Pfennig, Gwendoline; Mahaut, Clementine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F.; Crow, Yanick J.; Devriendt, Koen; Drouin-Garraud, Valerie; Flori, Elisabeth; Genevieve, David; Hennekam, Raoul C.; Hurst, Jane; Krakow, Deborah; Le Merrer, Martine; Lichtenbelt, Klaske D.; Lynch, Sally A.; Lyonnet, Stanislas; MacDermot, Kay; Mansour, Sahar; Megarbane, Andre; Santos, Heloisa G.; Splitt, Miranda; Superti-Furga, Andrea; Unger, Sheila; Williams, Denise; Munnich, Arnold; Cormier-Daire, Valerie 分享 收藏
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss Simpson, Michael A.; Irving, Melita D.; Asilmaz, Esra; Gray, Mary J.; Dafou, Dimitra; Elmslie, Frances V.; Mansour, Sahar; Holder, Sue E.; Brain, Caroline E.; Burton, Barbara K.; Kim, Katherine H.; Pauli, Richard M.; Aftimos, Salim; Stewart, Helen; Kim, Chong Ae; Holder-Espinasse, Muriel; Robertson, Stephen P.; Drake, William M.; Trembath, Richard C. 分享 收藏
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families p.M292T NDUFS2突变在多个家庭中导致复杂的I缺陷Leigh综合征 Tuppen, Helen A. L.; Hogan, Vanessa E.; He, Langping; Blakely, Emma L.; Worgan, Lisa; Al-Dosary, Mazhor; Saretzki, Gabriele; Alston, Charlotte L.; Morris, Andrew A.; Clarke, Michael; Jones, Simon; Devlin, Anita M.; Mansour, Sahar; Chrzanowska-Lightowlers, Zofia M. A.; Thorburn, David R.; McFarland, Robert; Taylor, Robert W. 分享 收藏
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