Works matching DE "HOLT-Oram syndrome"

Results: 36

Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature.

Published in:

2018

By:

Ma, Minglei;
Wu, Mingxing;
Li, Yanbin;
Wu, Di;
Zhang, Bingke

Publication type:

Case Study

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 557, doi. 10.1002/mgg3.234

By:

Dreßen, Martina;
Lahm, Harald;
Lahm, Armin;
Wolf, Klaudia;
Doppler, Stefanie;
Deutsch, Marcus‐André;
Cleuziou, Julie;
Pabst von Ohain, Jelena;
Schön, Patric;
Ewert, Peter;
Malcic, Ivan;
Lange, Rüdiger;
Krane, Markus

Publication type:

Article

EP13.08: Prenatal diagnosis of Holt-Oram syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 314, doi. 10.1002/uog.18515

By:

Maeda, K.;
Morine, M.;
Kaji, T.;
Nakaoku, D.;
Yamasaki, M.;
Kondo, A.;
Hinokio, K.;
Imoto, I.

Publication type:

Article

A CASE REPORT ON HOLT-ORAM SYNDROME (HEART-HAND).

Published in:

ARYA Atherosclerosis, 2011, v. 7, n. 2, p. 1

By:

Nourzad, Gholamreza;
Baghershiroodi, Mahnaz

Publication type:

Article

Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report.

Published in:

2019

By:

Ng, Perryn;
Deepak, Doddabele;
Teo, Lynette;
Low, Ting Ting

Publication type:

Case Study

Intraabdominal Pseudocyst Developed after Ventriculoperitoneal Shunt: A Case Report.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 6, p. 5, doi. 10.7860/JCDR/2015/14064.6114

By:

AYAN, ERDOGAN;
TANRIVERDI, HALIL IBRAHIM;
CALıSKAN, TEZCAN;
SENEL, UFUK;
KARAARSLAN, NUMAN

Publication type:

Article

Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation.

Published in:

Case Reports in Cardiology, 2014, p. 1, doi. 10.1155/2014/130617

By:

Kumar, Rupesh;
Mahapatra, Subhendu Sekhar;
Datta, Monalisa;
Hoque, Amanul;
Datta, Swarnendu;
Ghosh, Soumyajit;
Datta, Santanu;
Bhattacharjee, Subhankar

Publication type:

Article

Interventional Closure of Secundum Type Atrial Septal Defects in Infants Less Than 10 Kilograms: Indications and Procedural Outcome.

Published in:

2016

By:

Wyss, Yves;
Quandt, Daniel;
Weber, Roland;
Stiasny, Brian;
Weber, Benedikt;
Knirsch, Walter;
Kretschmar, Oliver

Publication type:

journal article

Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.

Published in:

Heart Views, 2016, v. 17, n. 1, p. 27, doi. 10.4103/1995-705X.182644

By:

Rodagi, Sunil B.;
Surana, Snehal S.;
Potdar, Vijaykumar R.;
Kirdi, Sharanbasav S.

Publication type:

Article

Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision.

Published in:

Anesthesia: Essays & Researches, 2014, v. 8, n. 1, p. 83, doi. 10.4103/0259-1162.128917

By:

Shetti, Akshaya N.;
Dhulkhed, Vithal K.;
Panchgar, Vinayak;
Prakash, Lokesh

Publication type:

Article

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.

Published in:

PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006521

By:

Sulaiman, Fatima A.;
Nishimoto, Satoko;
Murphy, George R. F.;
Kucharska, Anna;
Butterfield, Natalie C.;
Newbury-Ecob, Ruth;
Logan, Malcolm P. O.

Publication type:

Article

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-54312-w

By:

Ghosh, Tushar K.;
Aparicio-Sánchez, José J.;
Buxton, Sarah;
Brook, J. David

Publication type:

Article

Monilethrix with Holt-Oram Syndrome: Case Report of a Rare Association.

Published in:

2015

By:

Shah, Vivek;
Tharini, G. K.;
Manoharan, K.

Publication type:

Case Study

543 miR-19a replacement rescues cardiac and fin defects in zebrafish model of holt-oram syndrome.

Published in:

Cardiovascular Research, 2014, v. 103, n. suppl_1, p. S99, doi. 10.1093/cvr/cvu095.1

By:

Chiavacci, E;
Cremisi, F;
Guzzolino, E;
Cellerino, A;
Baumgart, M;
D'aurizio, R;
Pitto, L

Publication type:

Article

Unusual Combination of Holt-Oram Syndrome and Persistent Left Superior Vena Cava.

Published in:

Congenital Heart Disease, 2012, v. 7, n. 4, p. E46, doi. 10.1111/j.1747-0803.2011.00594.x

By:

Thal, Sergio;
Boyella, Ravichandra;
Arsanjani, Reza;
Thai, Hoang;
Juneman, Elizabeth;
Movahed, Mohammad Reza;
Goldman, Steven

Publication type:

Article

Genetic Analyses Identified a <italic>SALL4</italic> Gene Mutation Associated with Holt–Oram Syndrome.

Published in:

DNA & Cell Biology, 2018, v. 37, n. 4, p. 398, doi. 10.1089/dna.2017.4094

By:

Li, Bojian;
Chen, Sun;
Sun, Kun;
Xu, Rang;
Wu, Yurong

Publication type:

Article

Pneumopericardium after Minimally Invasive Atrial Septal Defect Closure.

Published in:

Annals of Cardiac Anaesthesia, 2018, v. 21, n. 1, p. 97, doi. 10.4103/aca.ACA_37_17

By:

Lamba, Aditya;
Dutta, Rahul;
Chand, Rajesh K.

Publication type:

Article

Holt-Oram syndrome: Anesthetic challenges and safe outcome.

Published in:

2017

By:

Rana, Meenal;
Solanki, Sohan Lal;
Agarwal, Vandana;
Divatia, Jigeeshu V.

Publication type:

journal article

The Classical Holt Oram Syndrome.

Published in:

2016

By:

Naik, Nitin;
Rao, M Sudhakar;
S, Sneha;
Reddy, Sravan

Publication type:

Case Study

Prospective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Published in:

Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00191

By:

Gui, Baoheng;
Slone, Jesse;
Taosheng Huang

Publication type:

Article

A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 157, doi. 10.2147/TACG.S183418

By:

Ríos-Serna, Lady J;
Díaz-Ordoñez, Lorena;
Candelo, Estephania;
Pachajoa, Harry

Publication type:

Article

Unilateral Hypoplastic Kidney in a Case of Holt-Oram Syndrome.

Published in:

2013

By:

Dasgupta, M. K.;
Dutta, A.;
Sarkar, S.;
Patra, C.;
Dey, C.

Publication type:

Case Study

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 863, doi. 10.1038/ejhg.2012.16

By:

Patel, Chirag;
Silcock, Lee;
McMullan, Dominic;
Brueton, Louise;
Cox, Helen

Publication type:

Article

Holt-oram syndrome associated with double outlet right ventricle: A rare association.

Published in:

2013

By:

Singh, Bhupinder;
Kariyappa, Mallesh;
Balekundri Vijayalakshmi, Ishwarappa;
Nanjappa, Manjunath C.

Publication type:

Case Study

Guidewire replacement of leaking paediatric intravenous cannula.

Published in:

Indian Journal of Anaesthesia, 2016, v. 60, n. 1, p. 70, doi. 10.4103/0019-5049.174814

By:

Singh, Parikshit;
Kishore, Kunal

Publication type:

Article

Holt–Oram syndrome with aortopulmonary window – a rare association.

Published in:

2014

By:

Srinivas, Sunil K.;
Balekundri, Vijayalakshmi I.;
Manjunath, Cholenahally N.

Publication type:

Case Study

Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 499, doi. 10.1111/cge.12870

By:

Zaragoza, M.V.;
Hakim, S.A.;
Hoang, V.;
Elliott, A.M.

Publication type:

Article

Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 284, doi. 10.1111/cge.12777

By:

Sawardekar, K.P.

Publication type:

Article

Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2023, v. 57, n. 4, p. 563, doi. 10.14744/SEMB.2022.02359

By:

Ozdemir, Ozmert Muhammet Ali;
Turgut, Musa;
Demir, Gulay Sonmez;
Uzunlu, Osman;
Ergin, Hacer

Publication type:

Article

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 5, p. 4349, doi. 10.3892/mmr.2016.5043

By:

DONG-FENG GUO;
RUO-GU LI;
FANG YUAN;
HONG-YU SHI;
XU-MIN HOU;
XIN-KAI QU;
YING-JIA XU;
MIN ZHANG;
XU LIU;
JIN-QI JIANG;
YI-QING YANG;
XING-BIAO QIU

Publication type:

Article

Successful surgical closure of an aortopulmonary window associated with Holt-Oram syndrome in adulthood.

Published in:

2018

By:

Stefanović, Igor;
Milić, Aleksa;
Matejić, Kristina;
Jovanović, Ida

Publication type:

Case Study

Association Between the 4p16 Susceptibility Locus and the Risk of Atrial Septal Defect in Population from Southeast China.

Published in:

Pediatric Cardiology, 2016, v. 37, n. 1, p. 120, doi. 10.1007/s00246-015-1248-8

By:

Pei, Kaiyan;
Huang, Qiuyu;
Zhang, Guican;
Lu, Cailing;
Yu, Benzhang;
Yang, Liping

Publication type:

Article

Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome.

Published in:

2015

By:

Kimura, Masato;
Kikuchi, Atsuo;
Ichinoi, Natsuko;
Kure, Shigeo

Publication type:

Report

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

Published in:

2016

By:

Usang, Usang E.;
Agan, Thomas U.;
Inyang, Akan W.;
Emehute, John-Daniel C.;
Itam, Itam H.

Publication type:

journal article

Coronary artery compression by pectus excavatum and an epicardial pacing lead.

Published in:

2021

By:

Spentzou, Georgia;
Atkin, Karen;
Konstantinov, Igor E;
Pflaumer, Andreas

Publication type:

Case Study

Holt Oram syndrome: a registry-based study in Europe.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0156-y

By:

Barisic, Ingeborg;
Boban, Ljubica;
Greenlees, Ruth;
Garne, Ester;
Wellesley, Diana;
Calzolari, Elisa;
Addor, Marie-Claude;
Arriola, Larraitz;
Bergman, Jorieke E. H.;
Braz, Paula;
Budd, Judith L. S.;
Gatt, Miriam;
Haeusler, Martin;
Khoshnood, Babak;
Klungsoyr, Kari;
McDonnell, Bob;
Nelen, Vera;
Pierini, Anna;
Queisser-Wahrendorf, Annette;
Rankin, Judith

Publication type:

Article