Works matching Rubinstein-Taybi syndrome

Results: 355

Achados audiológicos na síndrome de Rubinstein-Taybi: revisão sistemática.

Published in:

Fisioterapia Brasil, 2023, v. 24, n. 1, p. 113, doi. 10.33233/fb.v24i1.5298

By:

Melchiors Angst, Otília Valéria;
Machado Rosa, Rafael Fabiano;
Gazzola Zen, Paulo Ricardo;
Sleifer, Pricila

Publication type:

Article

Correction of thumb angulations after physiolysis of delta phalanges in a child with Rubinstein-Taybi syndrome: a case report.

Published in:

Case Reports in Plastic Surgery & Hand Surgery, 2015, v. 2, n. 1, p. 12, doi. 10.3109/23320885.2014.997236

By:

Iba, Kousuke;
Wada, Takuro;
Yamashita, Toshihiko

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

Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome.

Published in:

Clinical Ophthalmology, 2012, v. 6, p. 1369, doi. 10.2147/OPTH.S31023

By:

Jacobs, David J.;
Sein, Julia;
Berrocal, Audina M.;
Grajewski, Alana L.;
Hodapp, Elizabeth

Publication type:

Article

Antibody deficiency in Rubinstein-Taybi syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 3, p. 355, doi. 10.1111/cge.12671

By:

Herriot, R.;
Miedzybrodzka, Z.

Publication type:

Article

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348

By:

Negri, G.;
Milani, D.;
Colapietro, P.;
Forzano, F.;
Della Monica, M.;
Rusconi, D.;
Consonni, L.;
Caffi, L. G.;
Finelli, P.;
Scarano, G.;
Magnani, C.;
Selicorni, A.;
Spena, S.;
Larizza, L.;
Gervasini, C.

Publication type:

Article

Multiple supernumerary teeth in a child with Rubinstein-Taybi syndrome: a rare feature.

Published in:

Archives of Orofacial Science, 2014, v. 9, n. 1, p. 47

By:

Marimuthoo, Thavamalar;
Sockalingam, S. Nagarajan M.P.

Publication type:

Article

RUBINSTEIN TAYBI SYNDROME; A VERY RARE CONDITION.

Published in:

2016

By:

Khan, Firdous;
Cheema, Tahseen Ahmed;
Tahir, Muhammad

Publication type:

Case Study

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.

Published in:

2015

By:

Bounakis, Nikolaos;
Karampalis, Christos;
Sharp, Hilary;
Tsirikos, Athanasios I.

Publication type:

Case Study

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.

Published in:

2015

By:

Bounakis, Nikolaos;
Karampalis, Christos;
Sharp, Hilary;
Tsirikos, Athanasios I.

Publication type:

Case Study

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.

Published in:

2015

By:

Bounakis, Nikolaos;
Karampalis, Christos;
Sharp, Hilary;
Tsirikos, Athanasios I.

Publication type:

Case Study

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein- Taybi syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 39, doi. 10.1002/mgg3.177

By:

Wincent, Josephine;
Luthman, Aron;
Belzen, Martine;
Lans, Christian;
Albert, Johanna;
Nordgren, Ann;
Anderlid, Britt‐Marie

Publication type:

Article

The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein--Taybi Syndrome.

Published in:

Health & Social Work, 2017, v. 42, n. 1, p. e32, doi. 10.1093/hsw/hlw062

By:

Burke, Shanna L.;
Maramaldi, Peter

Publication type:

Article

Rubinstein-Taybi Sendromlu Bir Konjenital Glokom Olgusu.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2011, v. 41, n. 4, p. 260, doi. 10.4274/tjo.41.57441

By:

Eren, Mümin Hakan;
Altinkaynak, Hasan;
Güngei, Hülya;
Gürsel, Tanil

Publication type:

Article

A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 1, p. 127, doi. 10.1007/s10803-019-04232-5

By:

Crawford, Hayley;
Moss, Joanna;
Groves, Laura;
Dowlen, Robyn;
Nelson, Lisa;
Reid, Donna;
Oliver, Chris

Publication type:

Article

Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2017, v. 47, n. 12, p. 3728, doi. 10.1007/s10803-016-3015-y

By:

Crawford, Hayley;
Waite, Jane;
Oliver, Chris

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

Repetitive Behavior in Rubinstein-Taybi Syndrome: Parallels with Autism Spectrum Phenomenology.

Published in:

Journal of Autism & Developmental Disorders, 2015, v. 45, n. 5, p. 1238, doi. 10.1007/s10803-014-2283-7

By:

Waite, Jane;
Moss, Joanna;
Beck, Sarah;
Richards, Caroline;
Nelson, Lisa;
Arron, Kate;
Burbidge, Cheryl;
Berg, Katy;
Oliver, Chris

Publication type:

Article

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493

By:

Van‐Gils, Julien;
Naudion, Sophie;
Toutain, Jérôme;
Lancelot, Gwenaelle;
Taine, Laurence;
Arveiler, Benoit;
Lacombe, Didier;
Fergelot, Patricia;
Attié‐Bitach, Tania;
Martinovic, Jelena;
Blesson, Sophie;
Demeer, Bénédicte;
Doray, Bérénice;
Gonzales, Marie;
Whalen, Sandra

Publication type:

Article

Oro-Facio-Dental Findings of Rubinstein-Taybi Syndrome as a Useful Diagnostic Feature.

Published in:

2014

By:

TIRALI, R. EBRU;
SAR, CAGLA;
CEHRELI, S. BURCAK

Publication type:

Case Study

Keloids: An Unwanted Spontaneity in Rubinstein-Taybi Syndrome.

Published in:

Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152594

By:

P., Shilpashree;
Jaiswal, Ashok Kumar;
Kharge, Priyadarshini M.

Publication type:

Article

Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 3, p. 5697, doi. 10.3390/ijms16035697

By:

Hee Jeong Yoo;
Kyung Kim;
In Hyang Kim;
Seong-Hwan Rho;
Jong-Eun Park;
Ki Young Lee;
Soon Ae Kim;
Byung Yoon Choi;
Namshin Kim

Publication type:

Article

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

Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome.

Published in:

Annals of Pediatric Cardiology, 2015, v. 8, n. 2, p. 157, doi. 10.4103/0974-2069.154151

By:

Loomba, Rohit S.;
Geddes, Gabrielle

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

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.

Published in:

Turkish Journal of Pediatrics, 2017, v. 59, n. 5, p. 601, doi. 10.24953/turkjped.2017.05.017

By:

Eser, Metin;
Ayaz, Akif;
Yeşil, Gözde

Publication type:

Article

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-28

By:

Marzuillo, Pierluigi;
Grandone, Anna;
Coppola, Ruggero;
Cozzolino, Domenico;
Festa, Adalgisa;
Messa, Federica;
Luongo, Caterina;
del Giudice, Emanuele Miraglia;
Perrone, Laura

Publication type:

Article

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

Rubinstein‐Taybi syndrome with ileocecal volvulus: A case report.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15762

By:

Aikoh, Takato;
Kanada, Satoshi;
Yokota, Naoki;
Hashizume, Naoki;
Watanabe, Kenichi;
Tsuru, Hirofumi

Publication type:

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

Patellofemoral Ligament Reconstruction in a Patient with Rubinstein--Taybi Syndrome.

Published in:

Acta Medica Iranica, 2014, v. 52, n. 3, p. 228

By:

Mirzatolooei, Fardin

Publication type:

Article

Evaluation of Ayres Sensory Integration ® Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report.

Published in:

Clinical Medicine Insights: Case Reports, 2023, p. 1, doi. 10.1177/11795476221148866

By:

Balikci, Aymen;
May-Benson, Teresa A;
Aracikul Balikci, Ayse Firdevs;
Tarakci, Ela;
Ikbal Dogan, Zeynep;
Ilbay, Gul

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

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0747-5

By:

Al-Qattan, Mohammad M.;
Jarman, Abdulaziz;
Rafique, Atif;
Al-Hassnan, Zuhair N.;
Al-Qattan, Heba M.

Publication type:

Article

Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability.

Published in:

Journal of Intellectual & Developmental Disability, 2021, v. 46, n. 1, p. 80, doi. 10.3109/13668250.2020.1776455

By:

Taupiac, Emmanuelle;
Lacombe, Didier;
Thiébaut, Eric;
Van-Gils, Julien;
Michel, Grégory;
Fergelot, Patricia;
Adrien, Jean-Louis

Publication type:

Article

Rubinstein-taybi syndrome: A case report and Review.

Published in:

2014

By:

Yunus, Shaikh Mohd;
Bhagwat, Bhagyashree

Publication type:

Abstract

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

Published in:

2016

By:

López, María;
Seidel, Verónica;
Santibáñez, Paula;
Cervera-Acedo, Cristina;
Castro-de Castro, Pedro;
Domínguez-Garrido, Elena

Publication type:

Case Study

Anesthetic Management for Patient with Rubinstein-Taybi Syndrome.

Published in:

International Student Journal of Nurse Anesthesia, 2016, v. 15, n. 3, p. 52

By:

Chand, Maureen

Publication type:

Article

RUBINSTEIN-TAYBI SYNDROME (RTS).

Published in:

2014

By:

Nabi, Ghulam;
Nabi Siraj, Omar

Publication type:

Case Study

A novel EP300 mutation associated with Rubinstein‐Taybi syndrome type 2 presenting as combined immunodeficiency.

Published in:

2018

By:

Saettini, Francesco;
Moratto, Daniele;
Grioni, Andrea;
Maitz, Silvia;
Iascone, Maria;
Rizzari, Carmelo;
Pavan, Fabio;
Spinelli, Marco;
Bettini, Laura Rachele;
Biondi, Andrea;
Badolato, Raffaele

Publication type:

Case Study

Septate Uterus in a Girl with Rubinstein–Taybi Syndrome.

Published in:

Case Reports in Pediatrics, 2018, p. 1, doi. 10.1155/2018/7878156

By:

de Castro Coelho, Filipa;
Câmara, Sara;
Alves, Inês;
Brazão, Kathleen

Publication type:

Article

Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent.

Published in:

2016

By:

Zavras, Nick;
Mennonna, Rosario;
Maris, Spyros;
Vaos, George

Publication type:

Case Study

Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report.

Published in:

2012

By:

Mohd Fadley, Md A;
Ismail, Azli;
Keong, Thong Meow;
Yusoff, Narazah Mohd;
Zakaria, Zubaidah

Publication type:

journal article

Infantile glaucoma in Rubinstein-Taybi syndrome.

Published in:

Eye (0950-222X), 2012, v. 26, n. 9, p. 1270, doi. 10.1038/eye.2012.123

By:

DaCosta, J;
Brookes, J

Publication type:

Article

New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.

Published in:

Clinical Genetics, 2013, v. 83, n. 3, p. 291, doi. 10.1111/j.1399-0004.2012.01894.x

By:

Suzuki, KT;
Torres, LC;
Sugayama, SMM;
Aguiar Alves, B da Costa;
Moreira‐Filho, CA;
Carneiro‐Sampaio, M

Publication type:

Article

Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome--like skeletal defects induced by Pdk1 or Cbp mutations in mice.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 1, p. 91, doi. 10.1172/JCI59466

By:

Jae-Hyuck Shim;
Greenblatt, Matthew B.;
Singh, Anju;
Brady, Nicholas;
Hu, Dorothy;
Drapp, Rebecca;
Ogawa, Wataru;
Kasuga, Masato;
Noda, Tetsuo;
Sang-Hwa Yang;
Sang-Kyou Lee;
Rebel, Vivienne I.;
Glimcher, Laurie H.

Publication type:

Article

A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.

Published in:

Clinical Endocrinology, 2015, v. 83, n. 3, p. 437, doi. 10.1111/cen.12748

By:

Tornese, Gianluca;
Marzuillo, Pierluigi;
Pellegrin, Maria Chiara;
Germani, Claudio;
Faleschini, Elena;
Zennaro, Floriana;
Grandone, Anna;
Miraglia del Giudice, Emanuele;
Perrone, Laura;
Ventura, Alessandro

Publication type:

Article

Rubinstein–Taybi syndrome – a window into follicular lymphoma biology.

Published in:

Leukemia & Lymphoma, 2016, v. 57, n. 12, p. 2908, doi. 10.3109/10428194.2016.1165816

By:

Mar, Nataliya;
Digiuseppe, Joseph A.;
Dailey, Mark E.

Publication type:

Article

Rubinstein-Taybi syndrome:A report of two siblings with unreported cutaneous stigmata.

Published in:

2013

By:

Bansal, Shuchi;
Relhan, Vineet;
Garg, Vijay K.

Publication type:

Case Study