Works matching Holt-Oram syndrome

Results: 184

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The Classical Holt Oram Syndrome.

Published in:

2016

By:

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

Publication type:

Case Study

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

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

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

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

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

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

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

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

Caesarean delivery in a parturient with Holt-Oram syndrome and implantable cardioverter defibrillator: anaesthetic considerations.

Published in:

2009

By:

Kanniah, Senthil;
Kanniah, Senthil K

Publication type:

journal article

Holt-Oram Sendromlu Bir Olgu.

Published in:

Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi, 2021, v. 31, n. 3, p. 425, doi. 10.5222/terh.2021.73644

By:

Demircan, Tülay;
Kızılca, Özgür;
Yılmaz, Nuh;
Kır, Mustafa;
Ünal, Nurettin

Publication type:

Article

Holt-Oram sindromas - literatūros apžvalga ir klinikinis atvejis.

Published in:

Neurologijos Seminarai, 2014, v. 18, n. 2, p. 144

By:

Serapinas, D.;
Puišyte, E.

Publication type:

Article

Holt-Oram Syndrome; A Case report.

Published in:

Tanzania Journal of Health Research, 2022, v. 23, n. 2, p. 1, doi. 10.4314/thrb.v23i2.9

By:

Damji, Rahim;
Hamel, Ben;
Binde, Yahya;
Kassim, Kamaria

Publication type:

Article

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Published in:

2015

By:

Jhang, Won Kyoung;
Lee, Beom Hee;
Kim, Gu-Hwan;
Lee, Jin-Ok;
Yoo, Han-Wook

Publication type:

journal article

A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome.

Published in:

Journal of the Turkish-German Gynecological Association, 2016, v. 17, n. 1, p. 55, doi. 10.5152/jtgga.2015.15233

By:

Ersoy, Ali Özgür;
Topçu, Vehap;
Kale, İbrahim;
Ersoy, Ebru;
Özler, Sibel;
Danışman, Nuri

Publication type:

Article

Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome.

Published in:

Cardiovascular Research, 2010, v. 88, n. 1, p. 130, doi. 10.1093/cvr/cvq178

By:

Boogerd, Cornelis J. J.;
Dooijes, Dennis;
Ilgun, Aho;
Hordijk, Roel;
Van De Laar, Ingrid M. B. H.;
Rump, Patrick;
Veenstra-Knol, Hermine E.;
Moorman, Antoon F. M.;
Barnett, Phil;
Postma, Alex V.

Publication type:

Article

Holt-Oram Syndrome with Pulmonary Involvement—A Valuable Algorithm to Follow.

Published in:

Indian Journal of Radiology & Imaging, 2024, v. 34, n. 2, p. 347, doi. 10.1055/s-0043-1776882

By:

Arunachalam, Venkata Subbaih;
Valakkada, Jineesh;
Ayyappan, Anoop

Publication type:

Article

ULTRASOUND IN SECOND TRIMESTER IN A DIAGNOSIS OF HOLT-ORAM SYNDROME - A CASE REPORT.

Published in:

Journal of Perinatal Medicine, 2017, v. 45, p. 211, doi. 10.1515/jpm-2017-3002

By:

Ejubovic, Emina;
Ribic, Nihad;
Ajanovic, Mirsad;
Karahasan, Hasan;
Zulovic, Tarik

Publication type:

Article

A Case Report on Holt Oram Syndrome.

Published in:

Pakistan Armed Forces Medical Journal, 2022, v. 72, p. S645, doi. 10.51253/pafmj.v72isuppl-3.9573

By:

Khan, Ali Nawaz;
Malik, Erum Shahzadi;
Anwar, Syed Onaiz;
Mahmood, Amjad;
Khan, Jamal Azfar

Publication type:

Article

Holt–Oram syndrome: Hands are the clue to the diagnosis.

Published in:

International Journal of Applied & Basic Medical Research, 2019, v. 9, n. 4, p. 248, doi. 10.4103/ijabmr.IJABMR_298_18

By:

Kumar, Basant;
Agstam, Sourabh

Publication type:

Article

Diagnosis of absent right superior vena cava with intraoperative transesophageal echocardiography in a child with Holt-Oram syndrome: Anesthetic and perfusion implications.

Published in:

2021

By:

Misra, Satyajeet;
Mohanty, Satyapriya;
Sathia, Siddhartha;
Mahapatra, Rudra;
Tapuria, Priyank;
Mahapatra, Rudra Pratap

Publication type:

journal article

Holt–Oram syndrome – Case series of two reports.

Published in:

Chrismed: Journal of Health & Research, 2019, v. 6, n. 2, p. 119, doi. 10.4103/cjhr.cjhr_104_18

By:

Ilyas, Mohd;
Wani, Arif;
Ahmad, Zubair;
Ahmad Kazimi, Mir;
Choh, Naseer

Publication type:

Article

Holt-Oram syndrome.

Published in:

European Review for Medical & Pharmacological Sciences, 2024, v. 28, n. 1, p. 336

By:

SKWAREK-DZIEKANOWSKA, A.;
WÓJTOWICZ-ŚCIŚLAK, A.;
SOBIESZEK, G.

Publication type:

Article

Molecular Genetic and Ocular Findings in Patients with Holt-Oram Syndrome.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 1, p. 1, doi. 10.1080/13816810590918073

By:

Gruenauer-Kloevekorn, Claudia;
Reichel, Martin B.;
Duncker, G.I. W.;
Froster, Ursula G.

Publication type:

Article

Prenatal diagnosis of Holt-Oram syndrome: Role of 3-D ultrasonography.

Published in:

Congenital Anomalies, 2009, v. 49, n. 1, p. 38, doi. 10.1111/j.1741-4520.2008.00211.x

By:

Sunagawa, Sorahiro;
Kikuchi, Akihiko;
Sano, Yoko;
Kita, Mariko;
Ono, Kyoko;
Horikoshi, Tsuguhiro;
Takagi, Kimiyo;
Kawame, Hiroshi

Publication type:

Article

Das Holt-Oram-Syndrom.

Published in:

Der Orthopäde, 2001, v. 30, n. 4, p. 226, doi. 10.1007/s001320050600

By:

Hafkemeyer, U.;
Verhoeven, G.;
Koller, A.;
Wetz, H.H.

Publication type:

Article

Functional analysis of two novel TBX5 variants present in individuals with Holt–Oram syndrome with different clinical manifestations.

Published in:

Molecular Genetics & Genomics, 2021, v. 296, n. 4, p. 809, doi. 10.1007/s00438-021-01781-2

By:

Varela, Débora;
Varela, Tatiana;
Conceição, Natércia;
Ferreira, Ângela;
Marques, Nuno;
Silva, Ana Paula;
Azevedo, Pedro;
Pereira, Salomé;
Camacho, Ana;
de Jesus, Ilídio;
Cancela, M. Leonor

Publication type:

Article

A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.

Published in:

Molecular Syndromology, 2010, v. 1, n. 6, p. 307, doi. 10.1159/000330109

By:

Muru, K.;
Kalev, I.;
Teek, R.;
Sõnajalg, M.;
Kuuse, K.;
Reimand, T.;
Õunap, K.

Publication type:

Article

Case report: Novel TBX5-related pathogenic mechanism of Holt--Oram syndrome.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1063202

By:

Yuheng Lang;
Yue Zheng;
Bingcai Qi;
Weifeng Zheng;
Chengxiu Zhao;
Hu Zhai;
Gang Wang;
Zhiqiang Luo;
Tong Li

Publication type:

Article

TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects.

Published in:

Molecular Medicine Reports, 2022, v. 25, n. 6, p. N.PAG

By:

Azab, Bilal;
Aburizeg, Dunia;
Ji, Weizhen;
Jeffries, Lauren;
Isbeih, Nooredeen Jamal;
Al-Akily, Amal Saleh;
Mohammad, Hashim;
Osba, Yousef Abu;
Shahin, Mohammad A.;
Dardas, Zain;
Hatmal, Ma'mon M.;
Al-Ammouri, Iyad;
Lakhani, Saquib

Publication type:

Article

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt--Oram syndrome.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2016, v. 21, n. 4, p. 193, doi. 10.4103/0971-9261.186552

By:

Ahmet Ali, Tuncer;
Afra, Karavelioğlu;
Embleton Didem, Baskin;
Muhsin, Elmas

Publication type:

Article

A New Mutation in the TBX5 Gene in Holt–Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis.

Published in:

Journal of Tropical Pediatrics, 2014, v. 60, n. 3, p. 257, doi. 10.1093/tropej/fmt109

By:

Atik, Tahir;
Dervisoglu, Huseyin;
Onay, Huseyin;
Ozkinay, Ferda;
Cogulu, Ozgur

Publication type:

Article

Holt-Oram Syndrome: A Rare Variant.

Published in:

Iranian Journal of Medical Sciences, 2017, v. 42, n. 4, p. 416

By:

Shankar, Binoy;
Bhutia, Euden;
Kumar, Dinesh;
Kishore, Sunil;
Das, Shakti Pad

Publication type:

Article

Mayer–von Rokitansky–Küster–Hauser syndrome in association with a hitherto undescribed variant of the Holt–Oram syndrome with an aorto‐pulmonary window.

Published in:

Human Reproduction, 2004, v. 19, n. 5, p. 1201, doi. 10.1093/humrep/deh198

By:

Ulrich, U.;
Schrickel, J.;
Dorn, C.;
Richter, O.;
Lewalter, T.;
Lüderitz, B.;
Rhiem, K.

Publication type:

Article