Works matching DE "THROMBOCYTOPENIA absent radius syndrome"

Results: 20

Reconstruction of Limb Deformities in Patients with Thrombocytopenia-absent Radius Syndrome.

Published in:

Orthopaedic Surgery, 2015, v. 7, n. 1, p. 50, doi. 10.1111/os.12157

By:

Al Kaissi, Ali;
Girsch, Werner;
Kenis, Vladimir;
Melchenko, Eugeniy;
Ben Ghachem, Maher;
Pospischill, Renata;
Klaushofer, Klaus;
Grill, Franz;
Ganger, Rudolf

Publication type:

Article

AN UNUSUAL ASSOCIATION OF TAR SYNDROME WITH ESOPHAGEAL ATRESIA: A Variant?

Published in:

Pediatric Hematology & Oncology, 2005, v. 22, n. 6, p. 499, doi. 10.1080/08880010591002332

By:

Eren, Erdal;
Büyükyavus, B. Ilker;
Özgüner, I. Faruk;
Tunç, Bahattin;
Savas, M. Cagri

Publication type:

Article

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a lowfrequency noncoding RBM8A SNP: a new familial case.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0188-6

By:

Tassano, Elisa;
Gimelli, Stefania;
Divizia, Maria Teresa;
Lerone, Margherita;
Vaccari, Carlotta;
Puliti, Aldamaria;
Gimelli, Giorgio

Publication type:

Article

PP-07 TAR Syndrome case report.

Published in:

2023

By:

Kuşcu, Nur;
Kel, Serem;
Demir, Süreyya;
Sungur, Müge Üstkaya;
Öztürk, Menekşe;
Duran, Mehmet Nuri;
Demir, Bülent

Publication type:

Case Study

Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 3, p. 1, doi. 10.7860/JCDR/2015/12263.5626

By:

KUMAR, MANI KANT;
CHAUDHARY, INDRADEO PRASAD;
RANJAN, RAM BILAS;
KUMAR, PRASHANT

Publication type:

Article

THROMBOCYTOPENIA AND ABSENT RADIUS (TAR) SYNDROME - CASE PRESENTATION.

Published in:

2017

By:

Vesa, Cosmin Mihai;
Moisi, Mădălina;
Petchesi, Codruta;
Popa, Loredana;
Mekereş, Florica;
Bembea, Marius;
Jurca, Claudia Maria

Publication type:

Case Study

Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects.

Published in:

Journal of Pediatric Research, 2022, v. 9, n. 3, p. 302, doi. 10.4274/jpr.galenos.2022.76993

By:

Karamık, Gökcen;
Öztürk, Nuray;
Nur, Banu;
Karasu, Gülsün;
Mıhçı, Ercan

Publication type:

Article

How to manage a congenital heart defect in a patient with thrombocytopenia-absent radius syndrome?

Published in:

Journal of Surgery & Medicine (JOSAM), 2024, v. 8, n. 4, p. 78, doi. 10.28982/josam.7580

By:

İştar, Hande;
Harmandar, Buğra

Publication type:

Article

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report.

Published in:

Molecular Medicine Reports, 2014, v. 9, n. 1, p. 163, doi. 10.3892/mmr.2013.1788

By:

PAPOULIDIS, IOANNIS;
OIKONOMIDOU, EIRINI;
ORRU, SANDRO;
SIOMOU, ELISAVET;
KONTODIOU, MARIA;
ELEFTHERIADES, MAKARIOS;
BACOULAS, VASILIOS;
CIGUDOSA, JUAN C.;
SUELA, JAVIER;
THOMAIDIS, LORETTA;
MANOLAKOS, EMMANOUIL

Publication type:

Article

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

Published in:

BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-376

By:

Bottillo, Irene;
Castori, Marco;
De Bernardo, Carmelilia;
Fabbri, Romano;
Grammatico, Barbara;
Preziosi, Nicoletta;
Scassellati, Giovanna Sforzolini;
Silvestri, Evelina;
Spagnuolo, Antonella;
Laino, Luigi;
Grammatico, Paola

Publication type:

Article

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

Published in:

British Journal of Haematology, 2017, v. 179, n. 4, p. 606, doi. 10.1111/bjh.14913

By:

Manukjan, Georgi;
Bösing, Hendrik;
Schmugge, Markus;
Strauß, Gabriele;
Schulze, Harald

Publication type:

Article

Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association.

Published in:

International Medical Case Reports Journal, 2015, v. 8, p. 81, doi. 10.2147/IMCRJ.S81770

By:

Kumar, Chetan;
Sharma, Deepak;
Pandita, Aakash;
Bhalerao, Sanjay

Publication type:

Article

An Infant With Abnormal Upper Extremity Findings: A Case Report.

Published in:

2018

By:

Williams, Jasmine;
Kim, Bonnie Y.;
Warrier, Rajasekharan

Publication type:

Case Study

Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described.

Published in:

Journal of Cutaneous Pathology, 2019, v. 46, n. 8, p. 609, doi. 10.1111/cup.13483

By:

Hipólito, Lucía N.;
Mendoza-Cembranos, María D.;
Villaescusa, María T.;
Jo-Velasco, Margarita;
Requena, Luis;
Alegría-Landa, Victoria

Publication type:

Article

Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers.

Published in:

Special Care in Dentistry, 2014, v. 34, n. 5, p. 251, doi. 10.1111/scd.12060

By:

Idahosa, Chizobam;
Berardi, Thomas R.;
Shkolnikov, Rosalyn;
Stoopler, Eric T.

Publication type:

Article

Newborn with an Arm Deformity.

Published in:

2017

By:

DASARATHY, JAVIDHYA;
YEH, VANESSA;
DHOOPAR, ARJUN SUNNY;
Dasarathy, Jaividhya

Publication type:

journal article

CONGENITAL BILATERAL RADIUS APLASION - A CASE REPORT.

Published in:

Journal of Perinatal Medicine, 2017, v. 45, p. 284, doi. 10.1515/jpm-2017-3002

By:

Grdinić, Aleksandar;
Miketić, Vojislav;
Šimun, Vojislav;
Knežević, Petar

Publication type:

Article

TRAP SEQUENCE.

Published in:

Journal of Perinatal Medicine, 2017, v. 45, p. 246, doi. 10.1515/jpm-2017-3002

By:

GUERRA, Manuel;
Banderas, Belen;
Carson, Claudia;
Leiva, Paz;
Morales, Nereida;
Vasquez, Patricio;
Haye, Maria Teresa;
Gutierrez, Jorge

Publication type:

Article

TAR SYNDROME PRENATAL DIAGNOSTIC, CASE REPORT.

Published in:

Journal of Perinatal Medicine, 2017, v. 45, p. 217, doi. 10.1515/jpm-2017-3002

By:

Janjić, Vladimir;
Crnogorac, Snežana

Publication type:

Article

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

Published in:

International Journal of Laboratory Hematology, 2016, v. 38, n. 4, p. 412, doi. 10.1111/ijlh.12516

By:

Nicchia, E.;
Giordano, P.;
Greco, C.;
De Rocco, D.;
Savoia, A.

Publication type:

Article