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1.

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Lupiáñez, Darío G; Kraft, Katerina; Heinrich, Verena; Krawitz, Peter; Brancati, Francesco; Klopocki, Eva; Horn, Denise; Kayserili, Hülya; Opitz, John M; Laxova, Renata; Santos-Simarro, Fernando; Gilbert-Dussardier, Brigitte; Wittler, Lars; Borschiwer, Marina; Haas, Stefan A; Osterwalder, Marco; Franke, Martin; Timmermann, Bernd; Hecht, Jochen; Spielmann, Malte; Visel, Axel; Mundlos, Stefan.

Cell; 161(5): 1012-1025, 2015 May 21.

Artigo em Inglês | MEDLINE | ID: mdl-25959774

2.

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Schaffer, Ashleigh E; Eggens, Veerle R C; Caglayan, Ahmet Okay; Reuter, Miriam S; Scott, Eric; Coufal, Nicole G; Silhavy, Jennifer L; Xue, Yuanchao; Kayserili, Hulya; Yasuno, Katsuhito; Rosti, Rasim Ozgur; Abdellateef, Mostafa; Caglar, Caner; Kasher, Paul R; Cazemier, J Leonie; Weterman, Marian A; Cantagrel, Vincent; Cai, Na; Zweier, Christiane; Altunoglu, Umut; Satkin, N Bilge; Aktar, Fesih; Tuysuz, Beyhan; Yalcinkaya, Cengiz; Caksen, Huseyin; Bilguvar, Kaya; Fu, Xiang-Dong; Trotta, Christopher R; Gabriel, Stacey; Reis, André; Gunel, Murat; Baas, Frank; Gleeson, Joseph G.

Cell; 157(3): 651-63, 2014 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-24766810

3.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi, Emmanuelle; Altunoglu, Umut; Leushacke, Marc; Bosso-Lefèvre, Célia; Khatoo, Muznah; Thi Tran, Hong; Naert, Thomas; Noelanders, Rivka; Hajamohideen, Amin; Beneteau, Claire; de Sousa, Sergio B; Karaman, Birsen; Latypova, Xenia; Basaran, Seher; Yücel, Esra Börklü; Tan, Thong Teck; Vlaminck, Lena; Nayak, Shalini S; Shukla, Anju; Girisha, Katta Mohan; Le Caignec, Cédric; Soshnikova, Natalia; Uyguner, Zehra Oya; Vleminckx, Kris; Barker, Nick; Kayserili, Hülya; Reversade, Bruno.

Nature; 557(7706): 564-569, 2018 05.

Artigo em Inglês | MEDLINE | ID: mdl-29769720

4.

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Szenker-Ravi, Emmanuelle; Altunoglu, Umut; Leushacke, Marc; Bosso-Lefèvre, Célia; Khatoo, Muznah; Thi Tran, Hong; Naert, Thomas; Noelanders, Rivka; Hajamohideen, Amin; Beneteau, Claire; de Sousa, Sergio B; Karaman, Birsen; Latypova, Xenia; Basaran, Seher; Yücel, Esra Börklü; Tan, Thong Teck; Vlaminck, Lena; Nayak, Shalini S; Shukla, Anju; Girisha, Katta Mohan; Le Caignec, Cédric; Soshnikova, Natalia; Uyguner, Zehra Oya; Vleminckx, Kris; Barker, Nick; Kayserili, Hülya; Reversade, Bruno.

Nature; 561(7722): E7, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29977062

5.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Vandervore, Laura V; Schot, Rachel; Milanese, Chiara; Smits, Daphne J; Kasteleijn, Esmee; Fry, Andrew E; Pilz, Daniela T; Brock, Stefanie; Börklü-Yücel, Esra; Post, Marco; Bahi-Buisson, Nadia; Sánchez-Soler, María José; van Slegtenhorst, Marjon; Keren, Boris; Afenjar, Alexandra; Coury, Stephanie A; Tan, Wen-Hann; Oegema, Renske; de Vries, Linda S; Fawcett, Katherine A; Nikkels, Peter G J; Bertoli-Avella, Aida; Al Hashem, Amal; Alwabel, Abdulmalik A; Tlili-Graiess, Kalthoum; Efthymiou, Stephanie; Zafar, Faisal; Rana, Nuzhat; Bibi, Farah; Houlden, Henry; Maroofian, Reza; Person, Richard E; Crunk, Amy; Savatt, Juliann M; Turner, Lisbeth; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Saadi, Nebal Waill; Akhondian, Javad; Lequin, Maarten H; Kayserili, Hülya; van der Spek, Peter J; Jansen, Anna C; Kros, Johan M; Verdijk, Robert M; Milosevic, Natasa Jovanov; Fornerod, Maarten; Mastroberardino, Pier Giorgio; Mancini, Grazia M S.

Am J Hum Genet; 2019 Nov 12.

Artigo em Inglês | MEDLINE | ID: mdl-31735293

6.

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Guillemyn, Brecht; Kayserili, Hülya; Demuynck, Lynn; Sips, Patrick; De Paepe, Anne; Syx, Delfien; Coucke, Paul J; Malfait, Fransiska; Symoens, Sofie.

Hum Mol Genet; 28(11): 1801-1809, 2019 06 01.

Artigo em Inglês | MEDLINE | ID: mdl-30657919

7.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp.

Am J Hum Genet; 101(3): 391-403, 2017 Sep 07.

Artigo em Inglês | MEDLINE | ID: mdl-28886341

8.

Cohesin complex-associated holoprosencephaly.

Kruszka, Paul; Berger, Seth I; Casa, Valentina; Dekker, Mike R; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F; Murdock, David R; Louie, Raymond J; Prijoles, Eloise J; Lichty, Angie W; Brouwer, Oebele F; Zonneveld-Huijssoon, Evelien; Stephan, Mark J; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L; Prasad, Chitra; Cereda, Anna; Iascone, Maria; Schreiber, Allison; Zurcher, Vickie; Corsten-Janssen, Nicole; Escobar, Luis; Clegg, Nancy J; Delgado, Mauricio R; Hajirnis, Omkar; Balasubramanian, Meena; Kayserili, Hülya; Deardorff, Matthew; Poot, Raymond A; Wendt, Kerstin S; Lipinski, Robert J; Muenke, Maximilian.

Brain; 142(9): 2631-2643, 2019 Sep 01.

Artigo em Inglês | MEDLINE | ID: mdl-31334757

9.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Marques Lourenço, Charles; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A; De Vries, Bert B A; Schinzel, Albert; Fisher, Simon E; Hoischen, Alexander; van Bon, Bregje W.

PLoS Genet; 13(3): e1006683, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-28346496

10.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Palencia-Campos, Adrián; Martínez-Fernández, María-Luisa; Altunoglu, Umut; Soto-Bielicka, Patricia; Torres, Antonio; Marín, Purificación; Aller, Elena; Sentürk, Leyli; Berköz, Ömer; Yildiran, Mehmet; Kayserili, Hülya; Gil-Camarero, Elena; Colli-Lista, Gloria; Sanchís-Calvo, Amparo; Carretero, Alba; Guillén-Navarro, Encarna; López-González, Vanesa; Ballesta-Martínez, María; Rosell, Jordi; Aglan, Mona S; Temtamy, Samia; Otaify, Ghada A; Cuevas-Catalina, Lourdes; Torres-Saavedra, María-Nieves; Nevado, Julian; Tenorio, Jair; Lapunzina, Pablo; Bermejo-Sánchez, Eva; Ruiz-Pérez, Víctor L.

Hum Mutat; 2019 Sep 24.

Artigo em Inglês | MEDLINE | ID: mdl-31549748

11.

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Palencia-Campos, Adrian; Ullah, Asmat; Nevado, Julian; Yildirim, Ruken; Unal, Edip; Ciorraga, Maria; Barruz, Pilar; Chico, Lucia; Piceci-Sparascio, Francesca; Guida, Valentina; De Luca, Alessandro; Kayserili, Hülya; Ullah, Irfan; Burmeister, Margit; Lapunzina, Pablo; Ahmad, Wasim; Morales, Aixa V; Ruiz-Perez, Victor L.

Hum Mol Genet; 26(23): 4556-4571, 2017 12 01.

Artigo em Inglês | MEDLINE | ID: mdl-28973407

12.

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.

Güven, Yeliz; Bal, Elodie; Altunoglu, Umut; Yücel, Esra; Hadj-Rabia, Smail; Koruyucu, Mine; Bahar Tuna, Elif; Çildir, Sule; Aktören, Oya; Bodemer, Christine; Uyguner, Zehra O; Smahi, Asma; Kayserili, Hülya.

Cytogenet Genome Res; 157(4): 189-196, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-30974434

13.

Correction: 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-Wödl, 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, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M S.

Genet Med; 21(9): 2160-2161, 2019 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30696996

14.

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.

Azakli, Hülya; Akkaya, Ayse Deniz; Aygün, Murat Serhat; Demirkesen, Cüyan; Eraslan, Serpil; Kayserili, Hülya.

Am J Med Genet A; 179(1): 123-129, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30561107

15.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N; Çaglayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yesil, Gözde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam.

J Med Genet; 2018 Nov 28.

Artigo em Inglês | MEDLINE | ID: mdl-30487245

16.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du, Renqian; Dinckan, Nuriye; Song, Xiaofei; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Petty, Lauren E; Muzny, Donna M; Below, Jennifer E; Boerwinkle, Eric; Wu, Nan; Gibbs, Richard A; Posey, Jennifer E; Lupski, James R; Letra, Ariadne; Uyguner, Z Oya.

Hum Genet; 137(9): 689-703, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30046887

17.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White, Janson; Mazzeu, Juliana F; Hoischen, Alexander; Jhangiani, Shalini N; Gambin, Tomasz; Alcino, Michele Calijorne; Penney, Samantha; Saraiva, Jorge M; Hove, Hanne; Skovby, Flemming; Kayserili, Hülya; Estrella, Elicia; Vulto-van Silfhout, Anneke T; Steehouwer, Marloes; Muzny, Donna M; Sutton, V Reid; Gibbs, Richard A; Lupski, James R; Brunner, Han G; van Bon, Bregje W M; Carvalho, Claudia M B.

Am J Hum Genet; 96(4): 612-22, 2015 Apr 02.

Artigo em Inglês | MEDLINE | ID: mdl-25817016

18.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M R; Gilissen, Christian; Hoischen, Alexander; Cremers, Cor W; Verbist, Berit; de Brouwer, Arjan P M; Padberg, George W; Pennings, Ronald; Kayserili, Hülya; Kremer, Hannie; Van Camp, Guy; van Bokhoven, Hans.

Genet Med; 2018 Oct 05.

Artigo em Inglês | MEDLINE | ID: mdl-30287925

19.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs, Eline P J; Jansen, Sandra; Vergano, Samantha A; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, 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, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M S.

Genet Med; 2018 Nov 08.

Artigo em Inglês | MEDLINE | ID: mdl-30349098

20.

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

Dinckan, Nuriye; Du, Renqian; Akdemir, Zeynep C; Bayram, Yavuz; Jhangiani, Shalini N; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Boerwinkle, Eric; Gibbs, Richard A; Posey, Jennifer E; Lupski, James R; Uyguner, Zehra O; Letra, Ariadne.

Am J Med Genet A; 176(4): 1015-1022, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29436111

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