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Items: 1 to 20 of 145

1.
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Lisa Pavinato, Silvia Carestiato, Slavica Trajkova, Lorena Sorasio, Giovanna Mantovani, Luisa De Sanctis, Jennifer Kerkhof, Haley McConkey, Jessica Rzasa, Emily Todd, Maria Balzo, Simona Cardaropoli, Alessandro Bruselles, Silvia De Rubeis, Joseph D. Buxbaum, Marco Tartaglia, Bekim Sadikovic, Giovanni Battista Ferrero, Alfredo Brusco
Clin Genet. 2025 Mar; 107(3): 354–358. Published online 2024 Nov 27. doi: 10.1111/cge.14654
PMCID:
PMC11790522
ArticlePDF–3.0M
2.
Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome
Lilly Tran, Julius T. Oatts, Maanasa Indaram
Am J Ophthalmol Case Rep. 2024 Dec; 36: 102226. Published online 2024 Nov 28. doi: 10.1016/j.ajoc.2024.102226
PMCID:
PMC11652752
ArticlePDF–859K
3.
Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
Julien Van Gils, Slim Karkar, Aurélien Barre, Seyta Ley-Ngardigal, Sophie Nothof, Stéphane Claverol, Caroline Tokarski, Jean-Philippe Trani, Raphael Chevalier, Natacha Broucqsault, Claire El Yazidi, Didier Lacombe, Patricia Fergelot, Frédérique Magdinier
Commun Biol. 2024; 7: 1331. Published online 2024 Oct 15. doi: 10.1038/s42003-024-06939-3
PMCID:
PMC11480426
ArticlePDF–2.3M
4.
Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning
Anna Rozensztrauch, Aleksander Basiak, Iwona Twardak
J Clin Med. 2024 Sep; 13(17): 5210. Published online 2024 Sep 2. doi: 10.3390/jcm13175210
PMCID:
PMC11396274
ArticlePDF–248K
5.
Histone acetylation and disease
S. Timmermann, H. Lehrmann, A. Polesskaya, A. Harel-Bellan
Cell Mol Life Sci. 2001 May; 58(5-6): 728–736. doi: 10.1007/PL00000896
PMCID:
PMC11337357
PDF–80K
6.
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
Genes (Basel) 2024 Jun; 15(6): 654. Published online 2024 May 22. doi: 10.3390/genes15060654
PMCID:
PMC11202993
ArticlePDF–669K
7.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Chiara Parodi, Elisa Adele Colombo, Paolo Grazioli, Federica Natacci, Paola Marchisio, Lidia Pezzani, Grazia Fazio, Donatella Milani, Valentina Massa, Cristina Gervasini
Hum Genet. 2024; 143(6): 747–759. Published online 2024 May 16. doi: 10.1007/s00439-024-02675-0
PMCID:
PMC11186948
ArticlePDF–3.2M
8.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
J Med Genet. 2024 Jun; 61(6): 503–519. Published online 2024 Mar 12. doi: 10.1136/jmg-2023-109438
PMCID:
PMC11137475
ArticlePDF–1.0M
9.
Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction
T. M. Hallam, R. Bourtchouladze
Cell Mol Life Sci. 2006 Aug; 63(15): 1725. Published online 2006 Jun 19. doi: 10.1007/s00018-005-5555-8
PMCID:
PMC11136099
ArticlePDF–269K
10.
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome
Yasuhito Nagai, Masaki Nishioka, Tatsuki Tanaka, Takahisa Shimano, Eiji Kirino, Toshihito Suzuki, Tadafumi Kato
PCN Rep. 2022 Sep; 1(3): e34. Published online 2022 Jul 28. doi: 10.1002/pcn5.34
PMCID:
PMC11114328
ArticlePDF–839K
11.
The role of genetics in the establishment and maintenance of the epigenome
Covadonga Huidobro, Agustin F. Fernandez, Mario F. Fraga
Cell Mol Life Sci. 2013 May; 70(9): 1543–1573. Published online 2013 Mar 10. doi: 10.1007/s00018-013-1296-2
PMCID:
PMC11113764
ArticlePDF–1.6M
12.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, MKHK Research Consortium, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke
HGG Adv. 2024 Jul 18; 5(3): 100287. Published online 2024 Mar 29. doi: 10.1016/j.xhgg.2024.100287
Correction in:
HGG Adv. 2024 Oct 10; 5(4): 100337.
PMCID:
PMC11040166
ArticlePDF–4.9M
13.
A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
Jee-Woo Kim, Jung Min Ko, Dong Yoon Lee, Jung-Won Shin
Ann Dermatol. 2023 May; 35(Suppl 1): S19–S24. Published online 2023 May 3. doi: 10.5021/ad.20.320
PMCID:
PMC10608378
ArticlePDF–14M
14.
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children
Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Mol Genet Genomic Med. 2023 Sep; 11(9): e2192. Published online 2023 May 10. doi: 10.1002/mgg3.2192
PMCID:
PMC10496081
ArticlePDF–952K
15.
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Mol Genet Genomic Med. 2023 Sep; 11(9): e2219. Published online 2023 Jun 23. doi: 10.1002/mgg3.2219
PMCID:
PMC10496051
ArticlePDF–573K
16.
EP300 facilitates human trophoblast stem cell differentiation
A. Jantine van Voorden, Remco Keijser, Geertruda J. M. Veenboer, Solange A. Lopes Cardozo, Dina Diek, Jennifer A. Vlaardingerbroek, Marie van Dijk, Carrie Ris-Stalpers, Ans M. M. van Pelt, Gijs B. Afink
Proc Natl Acad Sci U S A. 2023 Jul 11; 120(28): e2217405120. Published online 2023 Jul 5. doi: 10.1073/pnas.2217405120
PMCID:
PMC10334808
ArticlePDF–4.5M
17.
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Dima Qu’d, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Anne Slavotinek, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson
Front Genet. 2023; 14: 1116919. Published online 2023 Jun 21. doi: 10.3389/fgene.2023.1116919
PMCID:
PMC10321757
ArticlePDF–2.1M
18.
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng
BMC Med Genomics. 2023; 16: 84. Published online 2023 Apr 21. doi: 10.1186/s12920-023-01516-9
PMCID:
PMC10120144
ArticlePDF–1.5M
19.
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study
Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino
Am J Med Genet A. 2023 Feb; 191(2): 424–436. Published online 2022 Nov 14. doi: 10.1002/ajmg.a.63039
PMCID:
PMC10099472
ArticlePDF–2.1M
20.
Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen
Front Pediatr. 2023; 11: 1059658. Published online 2023 Mar 3. doi: 10.3389/fped.2023.1059658
PMCID:
PMC10022664
ArticlePDF–11M

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