Works matching Rubinstein-Taybi syndrome and genetics

Results: 60

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Published in:

Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 28, doi. 10.1186/s13052-015-0110-1

By:

Milani, Donatella;
Manzoni, Maria Paola;
Pezzani, Lidia;
Ajmone, Paola;
Gervasini, Cristina;
Menni, Francesca;
Esposito, Susanna

Publication type:

Article

Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1516565

By:

Ismagilova, Olga R.;
Adyan, Tagui A.;
Beskorovainaya, Tatiana S.;
Polyakov, Alexander V.

Publication type:

Article

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Published in:

Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103

By:

Enomoto, Yumi;
Yokoi, Takayuki;
Tsurusaki, Yoshinori;
Murakami, Hiroaki;
Tominaga, Makiko;
Minatogawa, Mari;
Abe‐Hatano, Chihiro;
Kuroda, Yukiko;
Ohashi, Ikuko;
Ida, Kazumi;
Shiiya, Shizuka;
Kumaki, Tatsuro;
Naruto, Takuya;
Mitsui, Jun;
Harada, Noriaki;
Kido, Yasuhiro;
Kurosawa, Kenji

Publication type:

Article

Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant.

Published in:

2022

By:

Lee, Yu-Rong;
Lin, Yu-Chen;
Chang, Yi-Han;
Huang, Hsin-Yu;
Hong, Yi-Kai;
Aala, Wilson Jr F.;
Tu, Wei-Ting;
Tsai, Meng-Che;
Chou, Yen-Yin;
Hsu, Chao-Kai

Publication type:

Case Study

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Published in:

Molecular Syndromology, 2025, v. 16, n. 3, p. 283, doi. 10.1159/000541941

By:

Erkan, Dilsu Dicle;
Soğukpınar, Merve;
Ürel Demir, Gizem;
Utine, Gülen Eda;
Şimşek-Kiper, Pelin Özlem

Publication type:

Article

Rubinstein-Taybi syndrome: further evidence of a genetic aetiology.

Published in:

1985

By:

Gillies, D. R. N.;
Roussounis, S. H.;
Gillies, D R

Publication type:

journal article

Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing.

Published in:

Neonatology Today, 2023, v. 18, n. 12, p. 165

By:

Hua Wang;
Ann Ly

Publication type:

Article

A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma.

Published in:

European Review for Medical & Pharmacological Sciences, 2021, v. 25, n. 3, p. 1447

By:

HUANG, F.-R.;
ZHANG, A.-M.;
XU, J.;
HUANG, L.

Publication type:

Article

Development and Behaviour in Genetic Syndromes: Rubinstein-Taybi Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 1999, v. 12, n. 4, p. 302, doi. 10.1111/j.1468-3148.1999.tb00086.x

By:

Boer, Harm;
Langton, John;
Clarke, David

Publication type:

Article

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1791

By:

Choi, Naye;
Kim, Hwa Young;
Lim, Byung Chan;
Chae, Jong‐Hee;
Kim, Soo Yeon;
Ko, Jung Min

Publication type:

Article

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.972

By:

Pérez‐Grijalba, Virginia;
García‐Oguiza, Alberto;
López, María;
Armstrong, Judith;
García‐Miñaur, Sixto;
Mesa‐Latorre, Jose María;
O'Callaghan, Mar;
Pineda Marfa, Mercé;
Ramos‐Arroyo, Maria Antonia;
Santos‐Simarro, Fernando;
Seidel, Verónica;
Domínguez‐Garrido, Elena

Publication type:

Article

Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1588657

By:

Wang, Yefeng;
Wu, Xinghan;
Zhao, Sha;
Xu, Ningan

Publication type:

Article

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.

Published in:

2020

By:

Wu, Yueheng;
Xia, Yu;
Li, Ping;
Qu, Hui-Qi;
Liu, Yichuan;
Yang, Yongchao;
Lin, Jijin;
Zheng, Meng;
Tian, Lifeng;
Wu, Zhuanbin;
Huang, Shufang;
Qin, Xianyu;
Zhou, Xianwu;
Chen, Shaoxian;
Liu, Yanying;
Wang, Yonghua;
Li, Xiaofeng;
Zeng, Hanshi;
Hakonarson, Hakon;
Zhuang, Jian

Publication type:

journal article

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. N.PAG, doi. 10.1038/s42003-024-06939-3

By:

Van Gils, Julien;
Karkar, Slim;
Barre, Aurélien;
Ley-Ngardigal, Seyta;
Nothof, Sophie;
Claverol, Stéphane;
Tokarski, Caroline;
Trani, Jean-Philippe;
Chevalier, Raphael;
Broucqsault, Natacha;
El Yazidi, Claire;
Lacombe, Didier;
Fergelot, Patricia;
Magdinier, Frédérique

Publication type:

Article

Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 17, p. 5210, doi. 10.3390/jcm13175210

By:

Rozensztrauch, Anna;
Basiak, Aleksander;
Twardak, Iwona

Publication type:

Article

General anesthetic management for dental surgery in an adult patient with Rubinstein-Taybi syndrome.

Published in:

JA Clinical Reports, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40981-023-00621-z

By:

Kotera, Atsushi

Publication type:

Article

Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2017, v. 47, n. 11, p. 3321, doi. 10.1007/s10803-017-3259-1

By:

Cazalets, Jean;
Bestaven, Emma;
Doat, Emilie;
Baudier, Marie;
Gallot, Cécile;
Amestoy, Anouck;
Bouvard, Manuel;
Guillaud, Etienne;
Guillain, Isabelle;
Grech, Emelyne;
Van-gils, Julien;
Fergelot, Patricia;
Fraisse, Sonia;
Taupiac, Emmanuelle;
Arveiler, Benoit;
Lacombe, Didier

Publication type:

Article

Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2016, v. 46, n. 6, p. 2064, doi. 10.1007/s10803-016-2736-2

By:

Waite, Jane;
Beck, Sarah;
Heald, Mary;
Powis, Laurie;
Oliver, Chris

Publication type:

Article

Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report.

Published in:

RGO: Revista Gaúcha de Odontologia, 2022, v. 70, p. 1, doi. 10.1590/1981-86372022005420210102

By:

SILVA, Sarah Katherine de Oliveira;
dos SANTOS, Nilton Cesar Nogueira;
SIMÕES, Francisco Xavier Paranhos Coêlho;
MAIA, Ana Carolina Del-Sarto Azevedo

Publication type:

Article

CRISPR/Cas9 genome editing clinical trials for neurodevelopmental disorders.

Published in:

2024

By:

Abdelmoula, B.;
Bouayed Abdelmoula, N.

Publication type:

Abstract

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537

By:

Spena, S.;
Milani, D.;
Rusconi, D.;
Negri, G.;
Colapietro, P.;
Elcioglu, N.;
Bedeschi, F.;
Pilotta, A.;
Spaccini, L.;
Ficcadenti, A.;
Magnani, C.;
Scarano, G.;
Selicorni, A.;
Larizza, L.;
Gervasini, C.

Publication type:

Article

Rubinstein-Taybi syndrome (CREBBP, EP300).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.124

By:

van Belzen, Martine;
Bartsch, Oliver;
Lacombe, Didier;
Peters, Dorien J. M.;
Hennekam, Raoul C. M.

Publication type:

Article

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Published in:

Congenital Anomalies, 2005, v. 45, n. 4, p. 125, doi. 10.1111/j.1741-4520.2005.00081.x

By:

Udaka, Toru;
Samejima, Hazuki;
Kosaki, Rika;
Kurosawa, Kenji;
Okamoto, Nobuhiko;
Mizuno, Seiji;
Makita, Yoshio;
Numabe, Hironao;
Toral, Joaquín Fernández;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Syndromes Associated with Hair Disorders.

Published in:

International Journal of Trichology, 2025, v. 17, n. 1, p. 4, doi. 10.4103/ijt.ijt_107_23

By:

Shah, Mauli M.;
Dhanani, Shree;
Nair, Pragya A.

Publication type:

Article

Ecology of development in children with brain impairment.

Published in:

Child: Care, Health & Development, 2003, v. 29, n. 2, p. 131, doi. 10.1046/j.1365-2214.2003.00323.x

By:

Lebeer, J.;
Rijke, R.

Publication type:

Article

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Published in:

2018

By:

Paulraj, Prabakaran;
Palumbos, Janice C.;
Openshaw, amanda;
Carey, John C.;
Toydemir, Reha M.

Publication type:

Case Study

Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways.

Published in:

Journal of Computational Neuroscience, 2021, v. 49, n. 1, p. 37, doi. 10.1007/s10827-020-00771-4

By:

Smolen, Paul;
Wood, Marcelo A.;
Baxter, Douglas A.;
Byrne, John H.

Publication type:

Article

Rubinstein Taybi Syndrome.

Published in:

2013

By:

Das, N.;
Ghosh, N.;
Biswas, S.;
Nayek, K.

Publication type:

Case Study

Multiple perforating and non perforating pilomatricomas in a patient with Churg–Strauss syndrome and Rubinstein−Taybi syndrome.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2004, v. 18, n. 5, p. 607, doi. 10.1111/j.1468-3083.2004.00991.x

By:

Bayle, P.;
Bazex, J.;
Lamant, L.;
Lauque, D.;
Durieu, C.;
Albes, B.

Publication type:

Article

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05608-6

By:

Zhou, Jiaji;
Dan, Tang;
Zeng, Lan;
Xiong, Fu;
Pi, Guanghuan;
Chen, Ai;
Liu, Haiting;
Zhu, Shuyao

Publication type:

Article

Rubinstein–Taybi Syndrome in a Male Child: Unusual Manifestations of a Rare Disease.

Published in:

Indian Journal of Paediatric Dermatology, 2019, v. 20, n. 2, p. 151, doi. 10.4103/ijpd.IJPD_44_18

By:

Balikai, Deepak;
Shetty, Varsha;
Rao, Raghavendra;
Pai, B

Publication type:

Article

Patent arterial duct.

Published in:

2009

By:

Forsey JT;
Elmasry OA;
Martin RP;
Forsey, Jonathan T;
Elmasry, Ola A;
Martin, Robin P

Publication type:

journal article

Rubinstein-Taybi Syndrome: A Case Report.

Published in:

Case Reports in Dentistry, 2012, p. 1, doi. 10.1155/2012/483867

By:

Münevveroglu, A. P.;
Akgöl, B. B.

Publication type:

Article

Caregivers of individuals with Rubinstein–Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.

Published in:

Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 153, doi. 10.1002/jgc4.1464

By:

Webster, Joshua;
Wiley, Susan;
Schorry, Elizabeth;
Bowers, Katherine;
Collins Ruff, Kathleen;
Riddle, Ilka

Publication type:

Article

Rubinstein-Taybi syndrome with agenesis of corpus callosum.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 175, doi. 10.4103/1817-1745.159207

By:

Mishra, Shubhankar;
Agarwalla, Sunil Kumar;
Potpalle, Dnyaneshwar Ramesh;
Dash, Nishant Nilotpal

Publication type:

Article

Dental treatment of a child with Rubinstein-Taybi syndrome.

Published in:

2005

By:

Davidovich, Esti;
Eimerl, Dan;
Peretz, Benjamin

Publication type:

journal article

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant.

Published in:

2022

By:

Yumul, Rhea Camille R.;
Chiong, Mary Anne D.

Publication type:

Case Study

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

Published in:

2011

By:

Akın, Mustafa Ali;
Güneş, Tamer;
Akın, Leyla;
Çoban, Dilek;
Oncu, Sena Kara;
Kiraz, Aslıhan;
Kurtoğlu, Selim

Publication type:

Case Study

The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome.

Published in:

Child's Nervous System, 2012, v. 28, n. 12, p. 2163, doi. 10.1007/s00381-012-1893-7

By:

Giussani, Carlo;
Selicorni, Angelo;
Fossati, Chiara;
Ingelmo, Pablo;
Canonico, Francesco;
Landi, Andrea;
Trezza, Andrea;
Riva, Matteo;
Sganzerla, Erik

Publication type:

Article

Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.

Published in:

Pediatric Neurosurgery, 2024, v. 59, n. 5/6, p. 181, doi. 10.1159/000540931

By:

Shanahan, Regan M.;
Hudson, Joseph S.;
Piazza, Martin G.;
Kehinde, Faith;
Anand, Sharath Kumar;
Ortiz, Damara;
Madan-Khetarpal, Suneeta;
Greene, Stephanie

Publication type:

Article

Rubinstein-Taybi Syndrome; A Case Report.

Published in:

2011

By:

Omran, Mohammad Reza SALEHI;
Sorkhi, Hadi;
Vostacolaee, Yasser ASGHARI;
Juibari, Ali GHABELI

Publication type:

Journal Article

Rubinstein-Taybi Syndrome; A Case Report.

Published in:

Iranian Journal of Child Neurology, 2011, v. 5, n. 2, p. 39

By:

OMRAN, Mohammad Reza SALEHI;
SORKHI, Hadi;
VOSTACOLAEE, Yasser ASGHARI;
JUIBARI, Ali GHABELI

Publication type:

Article

The role of genetics in the establishment and maintenance of the epigenome.

Published in:

Cellular & Molecular Life Sciences, 2013, v. 70, n. 9, p. 1543, doi. 10.1007/s00018-013-1296-2

By:

Huidobro, Covadonga;
Fernandez, Agustin;
Fraga, Mario

Publication type:

Article

Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.

Published in:

Cellular & Molecular Life Sciences, 2006, v. 63, n. 15, p. 1725, doi. 10.1007/s00018-005-5555-8

By:

Hallam, T. M.;
Bourtchouladze, R.

Publication type:

Article

Challenges in Prenatal Ultrasound Diagnosis of Rubinstein–Taybi Syndrome: A Case Report and Comprehensive Literature Review.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5142, doi. 10.3390/ijms26115142

By:

Matasariu, Daniela Roxana;
Bujor, Iuliana-Elena;
Gireada, Roxana Maria;
Guzga, Luiza Maria;
Nedelea, Florina Mihaela;
Titianu, Monica;
Ursache, Alexandra

Publication type:

Article

Rubinstein Taybi syndrome.

Published in:

Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2006, p. S27

By:

Stalin A.;
Varma B.;
Jayanthi

Publication type:

Article

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95133-0

By:

Park, Jong Eun;
Kim, Eunmi;
Lee, Dong-Won;
Park, Taek Kyu;
Kim, Min Sun;
Jang, Shin Yi;
Ahn, Jaemyung;
Park, Kwang Bo;
Kim, Keon-Ha;
Park, Hae-Chul;
Ki, Chang-Seok;
Kim, Duk-Kyung

Publication type:

Article

Multiple Pilomatricomas and Gliomatosis Cerebri—A New Association?

Published in:

Pediatric Dermatology, 2009, v. 26, n. 1, p. 75, doi. 10.1111/j.1525-1470.2008.00827.x

By:

Wachter-Giner, Tina;
Bieber, Imke;
Warmuth-Metz, Monika;
Bröcker, Eva-B.;
Hamm, Henning

Publication type:

Article

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Published in:

Genes, 2024, v. 15, n. 6, p. 654, doi. 10.3390/genes15060654

By:

Marchetti, Giulia Bruna;
Milani, Donatella;
Pisciotta, Livia;
Pezzoli, Laura;
Marchisio, Paola;
Rinaldi, Berardo;
Iascone, Maria

Publication type:

Article

Rubinstein-Taybi Syndrome with Psychosis.

Published in:

Indian Journal of Psychological Medicine, 2012, v. 34, n. 2, p. 184, doi. 10.4103/0253-7176.101796

By:

Nayak, Raghavendra B.;
Lakshmappa, Ambika;
Patil, Nanasaheb M.;
Chate, Sameeran S.;
Somashekar, Lohit

Publication type:

Article