Works matching DE "RUBINSTEIN-Taybi syndrome"

Results: 85

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

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

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

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

Bilateral Talon Cusp-An unusual presentation and its management.

Published in:

Indian Journal of Public Health Research & Development, 2012, v. 3, n. 2, p. 113

By:

Dave, Bhavna;
Rajashekhara, B. S.;
Manjunatha, B. S.;
Sujan, Sunanda G.

Publication type:

Article

Does Electrical Conductivity of Linear Polyelectrolytes in Aqueous Solutions Follow the Dynamic Scaling Laws? A Critical Review and a Summary of the Key Relations.

Published in:

Polymers (20734360), 2014, v. 6, n. 4, p. 1207, doi. 10.3390/polym6041207

By:

Cametti, Cesare

Publication type:

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

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

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

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

Early Intervention in Children (0-6 Years) with a Rare Developmental Disability: The Occupational Therapy Role.

Published in:

2014

By:

Dall'Alba, Lucy;
Gray, Marion;
Williams, Gary;
Lowe, Sharon

Publication type:

Journal Article

Corrigendum.

Published in:: 2012
Publication type:: Correction Notice

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

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:A report of two siblings with unreported cutaneous stigmata.

Published in:

2013

By:

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

Publication type:

Case Study

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

Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein--Taybi syndromes: potential role of H3K27 modifications.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005058

By:

Gamu, Daniel;
Gibson, William T.

Publication type:

Article

Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.

Published in:

Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5

By:

Amara, Pavan

Publication type:

Article

Odontoma.

Published in:

ENT: Ear, Nose & Throat Journal, 2021, v. 100, p. 536S, doi. 10.1177/0145561319890175

By:

Thompson, Lester D. R.

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

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: 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

Successful use of air-Q intubating laryngeal airway after failed rapid sequence intubation in a child with Rubinstein-Taybi syndrome.

Published in:

2013

By:

Khanna, Puneet;
Baidya, Dalim Kumar;
Tomar, Vinay;
Agarwal, Anil

Publication type:

Case Study

Menke–Hennekam Syndrome: A Literature Review and a New Case Report.

Published in:

Children, 2022, v. 9, n. 5, p. 759, doi. 10.3390/children9050759

By:

Sima, Aurora;
Smădeanu, Roxana Elena;
Simionescu, Anca Angela;
Nedelea, Florina;
Vlad, Andreea-Maria;
Becheanu, Cristina

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

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

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

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 (RTS).

Published in:

2014

By:

Nabi, Ghulam;
Nabi Siraj, Omar

Publication type:

Case Study

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

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Published in:

Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y

By:

Negri, Gloria;
Magini, Pamela;
Milani, Donatella;
Crippa, Milena;
Biamino, Elisa;
Piccione, Maria;
Sotgiu, Stefano;
Perrìa, Chiara;
Vitiello, Giuseppina;
Frontali, Marina;
Boni, Antonella;
Di Fede, Elisabetta;
Gandini, Maria Chiara;
Colombo, Elisa Adele;
Bamshad, Michael J.;
Nickerson, Deborah A.;
Smith, Joshua D.;
Loddo, Italia;
Finelli, Palma;
Seri, Marco

Publication type:

Article

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Published in:

Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9

By:

Rusconi, Daniela;
Negri, Gloria;
Colapietro, Patrizia;
Picinelli, Chiara;
Milani, Donatella;
Spena, Silvia;
Magnani, Cinzia;
Silengo, Margherita;
Sorasio, Lorena;
Curtisova, Vaclava;
Cavaliere, Maria;
Prontera, Paolo;
Stangoni, Gabriela;
Ferrero, Giovanni;
Biamino, Elisa;
Fischetto, Rita;
Piccione, Maria;
Gasparini, Paolo;
Salviati, Leonardo;
Selicorni, Angelo

Publication type:

Article

Genetic syndromes caused by mutations in epigenetic genes.

Published in:

Human Genetics, 2013, v. 132, n. 4, p. 359, doi. 10.1007/s00439-013-1271-x

By:

Berdasco, María;
Esteller, Manel

Publication type:

Article

Keloids in Rubinstein-Taybi syndrome: a clinical study.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 3, p. 615, doi. 10.1111/bjd.13124

By:

Kar, A.L.;
Houge, G.;
Shaw, A.C.;
Jong, D.;
Belzen, M.J.;
Peters, D.J.M.;
Hennekam, R.C.M.

Publication type:

Article

Rare genetic diseases, signalling pathways, and keloid scar formation.

Published in:

British Journal of Dermatology, 2014, v. 171, n. 3, p. 452, doi. 10.1111/bjd.13257

By:

Lacombe, D.;
Morice‐Picard, F.

Publication type:

Article

Psychiatric Profile in Rubinstein-Taybi Syndrome.

Published in:: Psychopathology, 2009, v. 43, n. 1, p. 63
Publication type:: 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

The Genetics Corner: A Genetics Consultation for Agenesis of the Corpus Callosum and Poor Feeding.

Published in:

2019

By:

Clark, Robin;
Ramanathan, Subhadra

Publication type:

Case Study