Works matching DE "RUBINSTEIN-Taybi syndrome"

Results: 85

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

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

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

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Published in:

2019

By:

Tang, Hui;
Guo, Jing;
Linpeng, Siyuan;
Wu, Lingqian

Publication type:

journal 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

Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.

Published in:

Clinical Case Reports, 2016, v. 4, n. 7, p. 696, doi. 10.1002/ccr3.598

By:

Sellars, Elizabeth A.;
Sullivan, Bonnie R.;
Schaefer, G. Bradley

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

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

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

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

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

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

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

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

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

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

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

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

Multiple keloids in a 16-year-old boy with Rubinstein- Taybi syndrome.

Published in:

2015

By:

Bienias, Wojciech;
Pastuszka, Marta;
Gutfreund, Katarzyna;
Kaszuba, Andrzej

Publication type:

Letter to the Editor

Air-Q blocker: A novel supraglottic airway device for patients with difficult airway and risk of aspiration.

Published in:

2014

By:

Darlong, Vanlal;
Biyani, Ghanshyam;
Baidya, Dalim Kumar;
Pandey, Ravindra;
Punj, Jyotsna

Publication type:

Case Study

Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 3, p. 422, doi. 10.4103/0970-9185.137285

By:

Darlong, Vanlal;
Pandey, Ravinder;
Garg, Rakesh;
Pahwa, Deepak

Publication type:

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

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

Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.

Published in:

Scientific Reports, 2015, p. 16256, doi. 10.1038/srep16256

By:

Ateca-Cabarga, Juan C.;
Cosa, Alejandro;
Pallarés, Vicente;
López-Atalaya, José P.;
Barco, Ángel;
Canals, Santiago;
Moratal, David

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

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

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

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 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

Erratum.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 367, doi. 10.1002/mgg3.218

By:

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

Publication type:

Article

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 QUALITY OF LIFE OF THE PARENTS OF A CHILD WITH RUBINSTEIN-TAYBI SYNDROME.

Published in:

Acta Neuropsychologica, 2013, v. 11, n. 1, p. 53

By:

Bidzan, Mariola;
Koszewska, Aneta;
Bieleninik, Łucja

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

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

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

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 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

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

Management of Anesthesia for Rubinstein-Taybi syndrome.

Published in:

2012

By:

Park, Cheon-Hee;
Kyung Hee Park;
Choi, Bo-Yoon

Publication type:

Letter

Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography.

Published in:

2018

By:

Cardalliac, Claire;
Vincent, Marie;
Joubert, Madeleine;
Le Vaillant, Claudine

Publication type:

Case Study

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

Non-syndromic multiple talon cusps in siblings.

Published in:

Indian Journal of Dental Research, 2014, v. 25, n. 2, p. 272, doi. 10.4103/0970-9290.135943

By:

Sharma, Gaurav;
Mutneja, Anudeep R.;
Nagpal, Archna;
Mutneja, Puneet

Publication type:

Article

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

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