Pesquisa | Biblioteca Virtual em Saúde

1.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M E; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Kiliç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank.

Am J Hum Genet; 99(1): 236-45, 2016 Jul 07.

Artigo em Inglês | MEDLINE | ID: mdl-27392078

2.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Kiper, Pelin O Simsek; Saito, Hiroaki; Gori, Francesca; Unger, Sheila; Hesse, Eric; Yamana, Kei; Kiviranta, Riku; Solban, Nicolas; Liu, Jeff; Brommage, Robert; Boduroglu, Koray; Bonafé, Luisa; Campos-Xavier, Belinda; Dikoglu, Esra; Eastell, Richard; Gossiel, Fatma; Harshman, Keith; Nishimura, Gen; Girisha, Katta M; Stevenson, Brian J; Takita, Hiroyuki; Rivolta, Carlo; Superti-Furga, Andrea; Baron, Roland.

N Engl J Med; 374(26): 2553-2562, 2016 Jun 30.

Artigo em Inglês | MEDLINE | ID: mdl-27355534

3.

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Akgun-Dogan, Ozlem; Simsek-Kiper, Pelin O; Taskiran, Ekim; Lissewski, Christina; Brinkmann, Julia; Schanze, Denny; Göçmen, Rahsan; Cagdas, Deniz; Bilginer, Yelda; Utine, Gülen E; Zenker, Martin; Ozen, Seza; Tezcan, Ilhan; Alikasifoglu, Mehmet; Boduroglu, Koray.

Am J Med Genet A; 179(12): 2474-2480, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-31584751

4.

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

Simsek-Kiper, Pelin Ozlem; Taskiran, Ekim; Kosukcu, Can; Arslan, Umut Ece; Cormier-Daire, Valérie; Gonc, Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Utine, Gulen Eda; Alanay, Yasemin; Alikasifoglu, Mehmet; Boduroglu, Koray.

Am J Med Genet A; 179(7): 1157-1172, 2019 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-30980518

5.

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray, Naz; Kosukcu, Can; Taskiran, Zihni Ekim; Simsek Kiper, Pelin Ozlem; Utine, Gulen Eda; Gucer, Safak; Tokatli, Aysegul; Boduroglu, Koray; Alikasifoglu, Mehmet.

Fetal Pediatr Pathol; : 1-9, 2019 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-31303091

6.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir, Gizem; Simsek-Kiper, Pelin Ozlem; Akgün-Dogan, Özlem; Göçmen, Rahsan; Wang, Zheng; Matsumoto, Naomichi; Miyake, Noriko; Utine, Gülen Eda; Nishimura, Gen; Ikegawa, Shiro; Boduroglu, Koray.

J Hum Genet; 63(9): 1003-1007, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29884795

7.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper, Pelin O; Taskiran, Ekim Z; Kosukcu, Can; Urel-Demir, Gizem; Akgun-Dogan, Ozlem; Yilmaz, Guney; Utine, Gulen E; Nishimura, Gen; Boduroglu, Koray; Alikasifoglu, Mehmet.

Am J Med Genet A; 176(9): 2009-2016, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30063090

8.

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.

Akgün Dogan, Özlem; Ürel Demir, Gizem; Arslan, Umut; Simsek-Kiper, Pelin Özlem; Utine, Gülen Eda; Alikasifoglu, Mehmet; Boduroglu, Koray.

Am J Perinatol; 35(5): 427-433, 2018 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-29112995

9.

Anauxetic dysplasia: A rare clinical entity.

Akgün-Dogan, Özlem; Simsek-Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroglu, Koray.

Turk J Pediatr; 60(1): 89-93, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30102486

10.

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Zengin-Akkus, Pinar; Taskiran, Ekim Z; Kabaçam, Serkan; Simsek-Kiper, Pelin Özlem; Haliloglu, Göknur; Boduroglu, Koray; Utine, Gülen Eda.

Turk J Pediatr; 60(1): 1-9, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30102473

11.

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Bilgin, Burçak; Kabaçam, Serkan; Taskiran, Ekim; Simsek-Kiper, Pelin Özlem; Alanay, Yasemin; Boduroglu, Koray; Utine, Gülen Eda.

Turk J Pediatr; 60(5): 506-513, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30968633

12.

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran, Ekim Z; Karaosmanoglu, Beren; Kosukcu, Can; Dogan, Özlem A; Taylan-Sekeroglu, Hande; Simsek-Kiper, Pelin Ö; Utine, Eda G; Boduroglu, Koray; Alikasifoglu, Mehmet.

Am J Med Genet A; 173(12): 3143-3152, 2017 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-28988429

13.

Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.

Çetinkaya, Arda; Taskiran, Ekim; Soyer, Tutku; Simsek-Kiper, Pelin Özlem; Utine, Gülen Eda; Tunçbilek, Gökhan; Boduroglu, Koray; Alikasifoglu, Mehmet.

Turk J Pediatr; 59(6): 619-624, 2017.

Artigo em Inglês | MEDLINE | ID: mdl-30035392

14.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Ürel Demir, Gizem; Dogan, Özlem Akgün; Simsek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroglu, Koray; Gucer, Safak; Alikasifoglu, Mehmet.

Fetal Pediatr Pathol; 36(6): 445-451, 2017 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-29220612

15.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Hülya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin Özlem; Barat-Houari, Mouna; Elcioglu, Nursel H; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M; Fabre, Aurélie; Baynam, Gareth; Sanchez, Elodie; Nürnberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valérie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nürnberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Geneviève, David; Yigit, Gökhan; Wollnik, Bernd.

Hum Mutat; 37(9): 847-64, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27302555

16.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M E; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Kiliç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank.

Am J Hum Genet; 102(4): 713, 2018 04 05.

Artigo em Inglês | MEDLINE | ID: mdl-29625027

17.

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.

Bekircan-Kurt, Can Ebru; Simsek-Kiper, Pelin Özlem; Boduroglu, Koray; Dericioglu, Nese.

Turk J Pediatr; 58(1): 97-100, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-27922244

18.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz, Sybille; Lissewski, Christina; Simsek-Kiper, Pelin O; Alanay, Yasemin; Boduroglu, Koray; Zenker, Martin; Rosenberger, Georg.

Hum Mol Genet; 22(8): 1643-53, 2013 Apr 15.

Artigo em Inglês | MEDLINE | ID: mdl-23335589

19.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane.

Hum Mol Genet; 22(25): 5121-35, 2013 Dec 20.

Artigo em Inglês | MEDLINE | ID: mdl-23906836

20.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Bramswig, Nuria C; Lüdecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillén-Navarro, Encarna; Kiper, Pelin Özlem Simsek; López-González, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J; Wollnik, Bernd; Strom, Tim M; Wieczorek, Dagmar.

Hum Genet; 134(6): 553-68, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25724810

Biblioteca Virtual em Saúde

Brasil

Sua seleção (0)

Formato de exportação:

Exportar:

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.

Anauxetic dysplasia: A rare clinical entity.

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.