Not logged in Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J.; Davies, Sally J.; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E.; Greenhalgh, Lynn; Holder, Susan E.; Johnson, Diana; Kumar, Ajith; Ladda, Roger L.; Sell, Susan; Begtrup, Amber; Lynch, Sally A.; Mccann, Emma; Ostern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew E. Share Save
Prostate Cancer Risk by BRCA2 Genomic Regions Nyberg, Tommy; Frost, Debra; Barrowdale, Daniel; Evans, D. Gareth; Bancroft, Elizabeth; Adlard, Julian; Ahmed, Munaza; Barwell, Julian; Brady, Angela F.; Brewer, Carole; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Eason, Jacqueline; Gregory, Helen; Henderson, Alex; Izatt, Louise; Kennedy, M. John; Miller, Claire; Morrison, Patrick J.; Murray, Alex; Ong, Kai-Ren; Porteous, Mary; Pottinger, Caroline; Rogers, Mark T.; Side, Lucy; Snape, Katie; Tripathi, Vishakha; Walker, Lisa; Tischkowitz, Marc; Eeles, Rosalind; Easton, Douglas F.; Antoniou, Antonis C. Share Save
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study Nyberg, Tommy; Frost, Debra; Barrowdale, Daniel; Evans, D. Gareth; Bancroft, Elizabeth; Adlard, Julian; Ahmed, Munaza; Barwell, Julian; Brady, Angela F.; Brewer, Carole; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Eason, Jacqueline; Gregory, Helen; Henderson, Alex; Izatt, Louise; Kennedy, M. John; Miller, Claire; Morrison, Patrick J.; Murray, Alex; Ong, Kai-Ren; Porteous, Mary; Pottinger, Caroline; Rogers, Mark T.; Side, Lucy; Snape, Katie; Walker, Lisa; Tischkowitz, Marc; Eeles, Rosalind; Easton, Douglas F.; Antoniou, Antonis C. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study Girardi, Fabio; Barnes, Daniel R.; Barrowdale, Daniel; Frost, Debra; Brady, Angela F.; Miller, Claire; Henderson, Alex; Donaldson, Alan; Murray, Alex; Brewer, Carole; Pottinger, Caroline; Evans, Gareth; Eccles, Diana; Lalloo, Fiona; Gregory, Helen; Cook, Jackie; Eason, Jacqueline; Adlard, Julian; Barwell, Julian; Ong, Kai Ren; Walker, Lisa; Izatt, Louise; Side, Lucy E.; Kennedy, M. John; Tischkowitz, Marc; Rogers, Mark T.; Porteous, Mary E.; Morrison, Patrick J.; Eeles, Ros; Davidson, Rosemarie; Snape, Katie; Easton, Douglas F.; Antoniou, Antonis C. Share Save
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Santen, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W. M.; van Minderhout, Ivonne J. H. M.; Snowdowne, Ronelle; van der Lans, Christian A. C.; Boogaard, Merel; Linssen, Margot M. L.; Vijfhuizen, Linda; van der Wielen, Michiel J. R.; Vollebregt, M. J. (Ellen); Breuning, Martijn H.; Kriek, Marjolein; van Haeringen, Arie; den Dunnen, Johan T.; Hoischen, Alexander; Clayton-Smith, Jill; de Vries, Bert B. A.; Hennekam, Raoul C. M.; van Belzen, Martine J. Share Save
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) Logan, Clare V.; Lucke, Barbara; Pottinger, Caroline; Abdelhamed, Zakia A.; Parry, David A.; Szymanska, Katarzyna; Diggle, Christine P.; van Riesen, Anne; Morgan, Joanne E.; Markham, Grace; Ellis, Ian; Manzur, Adnan Y.; Markham, Alexander F.; Shires, Mike; Helliwell, Tim; Scoto, Mariacristina; Huebner, Christoph; Bonthron, David T.; Taylor, Graham R.; Sheridan, Eamonn; Muntoni, Francesco; Carr, Ian M.; Schuelke, Markus; Johnson, Colin A. Share Save
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome Bowen, Margot E.; Boyden, Eric D.; Holm, Ingrid A.; Campos-Xavier, Belinda; Bonafe, Luisa; Superti-Furga, Andrea; Ikegawa, Shiro; Cormier-Daire, Valerie; Bovee, Judith V.; Pansuriya, Twinkal C.; de Sousa, Sergio B.; Savarirayan, Ravi; Andreucci, Elena; Vikkula, Miikka; Garavelli, Livia; Pottinger, Caroline; Ogino, Toshihiko; Sakai, Akinori; Regazzoni, Bianca M.; Wuyts, Wim; Sangiorgi, Luca; Pedrini, Elena; Zhu, Mei; Kozakewich, Harry P.; Kasser, James R.; Seidman, Jon G.; Kurek, Kyle C.; Warman, Matthew L. Share Save
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