Pesquisa | Biblioteca Virtual em Saúde

1.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

Vasileiou, Georgia; Vergarajauregui, Silvia; Endele, Sabine; Popp, Bernt; Büttner, Christian; Ekici, Arif B; Gerard, Marion; Bramswig, Nuria C; Albrecht, Beate; Clayton-Smith, Jill; Morton, Jenny; Tomkins, Susan; Low, Karen; Weber, Astrid; Wenzel, Maren; Altmüller, Janine; Li, Yun; Wollnik, Bernd; Hoganson, George; Plona, Maria-Renée; Cho, Megan T; Thiel, Christian T; Lüdecke, Hermann-Josef; Strom, Tim M; Calpena, Eduardo; Wilkie, Andrew O M; Wieczorek, Dagmar; Engel, Felix B; Reis, André.

Am J Hum Genet; 102(3): 468-479, 2018 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-29429572

2.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz, Pawel; Khan, Tahir N; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A; Brown, Chester W; Rosenfeld, Jill A; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L; Parsons, Donald W; Plon, Sharon E; Vieira, Marta W; Quaio, Caio R D C; Baratela, Wagner A R; Acosta Guio, Johanna C; Armstrong, Ruth; Mehta, Sarju G; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M; Shinde, Deepali N; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, André; Bacino, Carlos A; Xiao, Rui; Breman, Amy M; Smith, Janice L; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E; Yang, Yaping.

Am J Hum Genet; 101(4): 503-515, 2017 Oct 05.

Artigo em Inglês | MEDLINE | ID: mdl-28942966

3.

TRIM28 haploinsufficiency predisposes to Wilms tumor.

Diets, Illja J; Hoyer, Juliane; Ekici, Arif B; Popp, Bernt; Hoogerbrugge, Nicoline; van Reijmersdal, Simon V; Bhaskaran, Rajith; Hadjihannas, Michel; Vasileiou, Georgia; Thiel, Christian T; Seven, Didem; Uebe, Steffen; Ilencikova, Denisa; Waanders, Esmé; Mavinkurve-Groothuis, Annelies M C; Roeleveld, Nel; de Krijger, Ronald R; Wegert, Jenny; Graf, Norbert; Vokuhl, Christian; Agaimy, Abbas; Gessler, Manfred; Reis, André; Kuiper, Roland P; Jongmans, Marjolijn C J; Metzler, Markus.

Int J Cancer; 145(4): 941-951, 2019 08 15.

Artigo em Inglês | MEDLINE | ID: mdl-30694527

4.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Johansen, Anide; Rosti, Rasim O; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Çaglayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, André; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B; Gleeson, Joseph G; Abou Jamra, Rami.

Am J Hum Genet; 99(4): 912-916, 2016 Oct 06.

Artigo em Inglês | MEDLINE | ID: mdl-27616480

5.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle.

Genet Med; 2019 Nov 14.

Artigo em Inglês | MEDLINE | ID: mdl-31723249

6.

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

Popp, Bernt; Agaimy, Abbas; Kraus, Cornelia; Knaup, Karl X; Ekici, Arif B; Uebe, Steffen; Reis, André; Wiesener, Michael; Zweier, Christiane.

BMC Cancer; 19(1): 435, 2019 May 10.

Artigo em Inglês | MEDLINE | ID: mdl-31077186

7.

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Hebebrand, Moritz; Vasileiou, Georgia; Krumbiegel, Mandy; Kraus, Cornelia; Uebe, Steffen; Ekici, Arif B; Thiel, Christian T; Reis, André; Popp, Bernt.

Am J Med Genet A; 179(1): 50-56, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30548383

8.

Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

Vasileiou, Georgia; Hoyer, Juliane; Thiel, Christian T; Schaefer, Jan; Zapke, Maren; Krumbiegel, Mandy; Kraus, Cornelia; Zweier, Markus; Uebe, Steffen; Ekici, Arif B; Schneider, Michael; Wiesener, Michael; Rauch, Anita; Faschingbauer, Florian; Reis, André; Zweier, Christiane; Popp, Bernt.

Prenat Diagn; 39(12): 1136-1147, 2019 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-31498910

9.

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.

Knaup, Karl X; Hackenbeck, Thomas; Popp, Bernt; Stoeckert, Johanna; Wenzel, Andrea; Büttner-Herold, Maike; Pfister, Frederick; Schueler, Markus; Seven, Didem; May, Annette M; Halbritter, Jan; Gröne, Hermann-Josef; Reis, André; Beck, Bodo B; Amann, Kerstin; Ekici, Arif B; Wiesener, Michael S.

J Am Soc Nephrol; 29(9): 2298-2309, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-30049680

10.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer, Nadine N; Popp, Bernt; Schoeller, Eva; Schuhmann, Sarah; Heath, Karen E; Hisado-Oliva, Alfonso; Klinger, Patricia; Kraus, Cornelia; Trautmann, Udo; Zenker, Martin; Zweier, Christiane; Wiesener, Antje; Abou Jamra, Rami; Kunstmann, Erdmute; Wieczorek, Dagmar; Uebe, Steffen; Ferrazzi, Fulvia; Büttner, Christian; Ekici, Arif B; Rauch, Anita; Sticht, Heinrich; Dörr, Helmuth-Günther; Reis, André; Thiel, Christian T.

Genet Med; 20(6): 630-638, 2018 06.

Artigo em Inglês | MEDLINE | ID: mdl-29758562

11.

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

Saunier, Chloé; Støve, Svein Isungset; Popp, Bernt; Gérard, Bénédicte; Blenski, Marina; AhMew, Nicholas; de Bie, Charlotte; Goldenberg, Paula; Isidor, Bertrand; Keren, Boris; Leheup, Bruno; Lampert, Laetitia; Mignot, Cyril; Tezcan, Kamer; Mancini, Grazia M S; Nava, Caroline; Wasserstein, Melissa; Bruel, Ange-Line; Thevenon, Julien; Masurel, Alice; Duffourd, Yannis; Kuentz, Paul; Huet, Frédéric; Rivière, Jean-Baptiste; van Slegtenhorst, Marjon; Faivre, Laurence; Piton, Amélie; Reis, André; Arnesen, Thomas; Thauvin-Robinet, Christel; Zweier, Christiane.

Hum Mutat; 37(8): 755-64, 2016 08.

Artigo em Inglês | MEDLINE | ID: mdl-27094817

12.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Hoyer, Juliane; Ekici, Arif B; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André.

Am J Hum Genet; 90(3): 565-72, 2012 Mar 09.

Artigo em Inglês | MEDLINE | ID: mdl-22405089

13.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

Freunscht, Inga; Popp, Bernt; Blank, Rainer; Endele, Sabine; Moog, Ute; Petri, Holger; Prott, Eva-Christina; Reis, Andre; Rübo, Jochen; Zabel, Bernhard; Zenker, Martin; Hebebrand, Johannes; Wieczorek, Dagmar.

Behav Brain Funct; 9: 20, 2013 May 29.

Artigo em Inglês | MEDLINE | ID: mdl-23718928

14.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand, Moritz; Hüffmeier, Ulrike; Trollmann, Regina; Hehr, Ute; Uebe, Steffen; Ekici, Arif B; Kraus, Cornelia; Krumbiegel, Mandy; Reis, André; Thiel, Christian T; Popp, Bernt.

Orphanet J Rare Dis; 14(1): 38, 2019 02 11.

Artigo em Inglês | MEDLINE | ID: mdl-30744660

15.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer, Nadine N; Popp, Bernt; Taher, Leila; Vogl, Carina; Dhandapany, Perundurai S; Büttner, Christian; Uebe, Steffen; Sticht, Heinrich; Ferrazzi, Fulvia; Ekici, Arif B; De Luca, Alessandro; Klinger, Patrizia; Kraus, Cornelia; Zweier, Christiane; Wiesener, Antje; Jamra, Rami Abou; Kunstmann, Erdmute; Rauch, Anita; Wieczorek, Dagmar; Jung, Anna-Marie; Rohrer, Tilman R; Zenker, Martin; Doerr, Helmuth-Guenther; Reis, André; Thiel, Christian T.

Eur J Hum Genet; 27(7): 1061-1071, 2019 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-30809043

16.

SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients.

Agaimy, Abbas; Amin, Mahul B; Gill, Anthony J; Popp, Bernt; Reis, André; Berney, Daniel M; Magi-Galluzzi, Cristina; Sibony, Mathilde; Smith, Steven C; Suster, Saul; Trpkov, Kiril; Hes, Ondrej; Hartmann, Arndt.

Hum Pathol; 77: 139-146, 2018 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-29689242

17.

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

Wenzel, Andrea; Altmueller, Janine; Ekici, Arif B; Popp, Bernt; Stueber, Kurt; Thiele, Holger; Pannes, Alois; Staubach, Simon; Salido, Eduardo; Nuernberg, Peter; Reinhardt, Richard; Reis, André; Rump, Patrick; Hanisch, Franz-Georg; Wolf, Matthias T F; Wiesener, Michael; Huettel, Bruno; Beck, Bodo B.

Sci Rep; 8(1): 4170, 2018 Mar 08.

Artigo em Inglês | MEDLINE | ID: mdl-29520014

18.

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Popp, Bernt; Krumbiegel, Mandy; Grosch, Janina; Sommer, Annika; Uebe, Steffen; Kohl, Zacharias; Plötz, Sonja; Farrell, Michaela; Trautmann, Udo; Kraus, Cornelia; Ekici, Arif B; Asadollahi, Reza; Regensburger, Martin; Günther, Katharina; Rauch, Anita; Edenhofer, Frank; Winkler, Jürgen; Winner, Beate; Reis, André.

Sci Rep; 8(1): 17201, 2018 Nov 21.

Artigo em Inglês | MEDLINE | ID: mdl-30464253

19.

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring, Pernille Mathiesen; Larsen, Martin Jakob; Brasch-Andersen, Charlotte; Krogh, Lotte Nylandsted; Kibæk, Maria; Laulund, Lone; Illum, Niels; Dunkhase-Heinl, Ulrike; Wiesener, Antje; Popp, Bernt; Marangi, Giuseppe; Hjortshøj, Tina Duelund; Ek, Jakob; Vogel, Ida; Becher, Naja; Roos, Laura; Zollino, Marcella; Fagerberg, Christina Ringmann.

Eur J Med Genet; 2018 Jun 27.

Artigo em Inglês | MEDLINE | ID: mdl-29959045

20.

Exome Pool-Seq in neurodevelopmental disorders.

Popp, Bernt; Ekici, Arif B; Thiel, Christian T; Hoyer, Juliane; Wiesener, Antje; Kraus, Cornelia; Reis, André; Zweier, Christiane.

Eur J Hum Genet; 25(12): 1364-1376, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-29158550

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