Works matching DE "ATAXIA telangiectasia in children"

Results: 30

Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 3, p. 366, doi. 10.1177/0883073810381529

By:

Sharma, Suvasini;
Arya, Ravindra;
Raju, K.N. Vykunta;
Kumar, Atin;
Scheper, Gert C.;
van der Knaap, Marjo S.;
Gulati, Sheffali

Publication type:

Article

A lot like grief.

Published in:: Nursing Standard, 2006, v. 20, n. 25, p. 32
Publication type:: Article

Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL.

Published in:

Bone Marrow Transplantation, 2013, v. 48, n. 5, p. 740, doi. 10.1038/bmt.2012.207

By:

Ussowicz, M;
Musiał, J;
Duszeńko, E;
Haus, O;
Kałwak, K

Publication type:

Article

CHEMO- AND RADIOSENSITIVITY TESTING IN A PATIENT WITH ATAXIA TELANGIECTASIA AND HODGKIN DISEASE.

Published in:

Pediatric Hematology & Oncology, 2002, v. 19, n. 3, p. 163, doi. 10.1080/088800102753541314

By:

Tamminga, R. Y. J.;
Dolsma, W. V.;
Leeuw, J. A.;
Kampinga, H. H.

Publication type:

Article

Occlusion of Pulmonary Arteriovenous Malformations Using the Amplatzer Vascular Plug/Duct Occluder for a Family With Hereditary Hemorrhagic Telangiectasia.

Published in:

Pediatric Cardiology, 2011, v. 32, n. 8, p. 1260, doi. 10.1007/s00246-011-0073-y

By:

Cho, Min;
Park, Ji;
Lee, Hyoung

Publication type:

Article

Ataxia-Telangiectasia: Case Report of Two Siblings.

Published in:

2014

By:

Çatal, Ferhat;
Aslan, Mahmut;
Topal, Erdem;
Ermiştekin, Halime;
Sinanoğlu, M. Selçuk;
Aslan, Neslihan;
Yıldırım, Nurdan

Publication type:

Case Study

Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment.

Published in:

Pediatric Dermatology, 2014, v. 31, n. 6, p. 703, doi. 10.1111/pde.12411

By:

Privette, Emily D.;
Ram, Gita;
Treat, James R.;
Yan, Albert C.;
Heimall, Jennifer R.

Publication type:

Article

Updated Guide to Information for Families with Inherited Skin Disorders.

Published in:

Pediatric Dermatology, 2001, v. 18, n. 1, p. 77, doi. 10.1046/j.1525-1470.2001.018001077.x

By:

Sybert, Virginia P.

Publication type:

Article

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 8, p. 2161, doi. 10.1093/brain/awp171

By:

Labauge, Pierre;
Horzinski, Laetitia;
Ayrignac, Xavier;
Blanc, Pierre;
Vukusic, Sandra;
Rodriguez, Diana;
Mauguiere, Francois;
Peter, Laure;
Goizet, Cyril;
Bouhour, Francoise;
Denier, Christian;
Confavreux, Christian;
Obadia, Michael;
Blanc, Frederic;
Sèze, Jérome de;
Fogli, Anne;
Boespflug-Tanguy, Odile

Publication type:

Article

Cognitive and speech-language performance in children with ataxia telangiectasia.

Published in:

Developmental Neurorehabilitation, 2011, v. 14, n. 5, p. 315, doi. 10.3109/17518423.2011.603368

By:

Vinck, Anja;
Verhagen, Mijke M. M.;
Gerven, Marjo van;
de Groot, Imelda J. M.;
Weemaes, Corry M. R.;
Maassen, Ben A. M.;
Willemsen, Michel A. A. P.

Publication type:

Article

Multidisciplinary care of children and young people with ataxia-telangiectasia.

Published in:

2017

By:

Whitehouse, William P

Publication type:

journal article

Table of Contents.

Published in:: Developmental Medicine & Child Neurology, 2017, v. 59, n. 7, p. 665, doi. 10.1111/dmcn.13271
Publication type:: Article

Challenges in quantifying ataxia in core and comorbid early onset ataxias.

Published in:

Developmental Medicine & Child Neurology, 2017, v. 59, n. 4, p. 350, doi. 10.1111/dmcn.13305

By:

Saute, Jonas Alex Morales;
Jardim, Laura Bannach

Publication type:

Article

Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.

Published in:

2016

By:

Lefton-Greif, Maureen A;
Perlman, Adrienne L;
He, Xuming;
Lederman, Howard M;
Crawford, Thomas O

Publication type:

journal article

Ataxia rating scales are age-dependent in healthy children.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 6, p. 556, doi. 10.1111/dmcn.12369

By:

Brandsma, Rick;
Spits, Anne H;
Kuiper, Marieke J;
Lunsing, Roelinka J;
Burger, Huibert;
Kremer, Hubertus P;
Sival, Deborah A;
Barisic, N.;
Baxter, P.;
Brankovic‐Sreckovic, V.;
Calabrò, G.E.;
Catsman‐Berrevoets, C.;
Coo, IFM;
Craiu, D.;
Dan, B.;
Gburek‐Augustat, J.;
Kammoun‐Feki, F.;
Kennedy, C.;
Mancini, F.;
Mirabelli‐Badenier, M.

Publication type:

Article

The impact of development on the interpretation of movement disorders rating scales.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 6, p. 511, doi. 10.1111/dmcn.12464

By:

Mink, Jonathan W

Publication type:

Article

International Conference on the Clinical Science of Ataxia–Telangiectasia, University of Birmingham 14–15 October 2004.

Published in:

Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 652, doi. 10.1017/S0012162205001337

By:

Malcolm Taylor;
Gabriel Chow;
Susan Ritchie

Publication type:

Article

Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.

Published in:

2018

By:

Sharapova, Svetlana O.;
Valochnik, Alena V.;
Guryanova, Irina E.;
Sakovich, Inga S.;
Aleinikova, Olga V.

Publication type:

Case Study

A Rare Neurocutaneous Syndrome and A Rare Association.

Published in:

2015

By:

Ali, Hasab Alrasoul S.;
Elsayed, Muaz A. M.

Publication type:

Case Study

Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8.

Published in:

Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 63, doi. 10.3343/alm.2018.38.1.63

By:

De Souza, Mariana T.;
Vera-Lozada, Gabriela;
Othman, Moneeb;
Marques-Salles, Teresinha J.;
Pinto, Luciana W.;
da Rocha, Moisés M.;
Rouxinol, Soraia;
Liehr, Thomas;
Ribeiro, Raul C.;
Hassan, Rocio;
Silva, Maria Luiza M.

Publication type:

Article

From the Editor.

Published in:

Middle East Journal of Family Medicine, 2012, v. 10, n. 1, p. 2

By:

Abyad, A.

Publication type:

Article

Cutaneous Mastocytosis: A Review Focusing on the Pediatric Population.

Published in:

Clinical Pediatrics, 2008, v. 47, n. 8, p. 757, doi. 10.1177/0009922808318344

By:

Briley, Laura D.;
Phillips, Charles M.

Publication type:

Article

Mucocutaneous leishmaniasis in an 11-year-old girl with ataxia telangectasia - case report.

Published in:

2015

By:

Elfaituri, Safa S.;
Matoug, Idris;
Elsalheen, Hanan;
Belrasali, Yousif;
Emaetig, Fatma

Publication type:

Case Study

Granulomatous skin lesions in a patient with ataxia telangiectasia.

Published in:

British Journal of Dermatology, 1998, v. 139, n. 3, p. 543

By:

ŞentÜrk;
HindioĞlu;
Şahin;
GÖKÖZ

Publication type:

Article

Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

Published in:

2006

By:

Heinrich, Tilman;
Prowald, Carolin;
Friedl, Richard;
Gottwald, Benni;
Kalb, Reinhard;
Neveling, Kornelia;
Herterich, Sabine;
Hoehn, Holger;
Schindler, Detlev

Publication type:

journal article

Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 6, p. 824, doi. 10.1017/cjn.2016.7

By:

Salman, Michael S;
Chodirker, Bernard N;
Bunge, Martin

Publication type:

Article

Vesical varices and telangiectasias in a patient with ataxia telangiectasia.

Published in:

2008

By:

Suzuki, Koichi;
Tsugawa, Koji;
Oki, Eishin;
Morio, Tomohiro;
Ito, Etsuro;
Tanaka, Hiroshi

Publication type:

Report

Cutaneous granuloma with ataxia telangiectasia--a case report and review of literature.

Published in:

Clinical & Experimental Dermatology, 1993, v. 18, n. 5, p. 458, doi. 10.1111/j.1365-2230.1993.tb02251.x

By:

Joshi, R.K.;
Al Asiri, R.H.;
Haleem, A.;
Abanmi, A.;
Patel, C.K.

Publication type:

Article

Progressive Ataxia in An 11 Year Child - A Case Report.

Published in:

2013

By:

Rajoor, Umesh. G.;
Kashinakunti, Mohan D.

Publication type:

Case Study

The ATM gene and susceptibility to childhood T-cell acute lymphoblastic leukaemia.

Published in:

British Journal of Haematology, 1998, v. 103, n. 2, p. 536, doi. 10.1046/j.1365-2141.1998.00993.x

By:

Takeuchi, Seisho;
Koike, Michiaki;
Park, Susan;
Seriu, Taku;
Bartram, Claus R.;
Taub, Harry E.;
Williamson, Ian K.;
Grewal, Jeffrey;
Taguchi, Hirokuni;
Koeffler, H. Phillip

Publication type:

Article