标题
The natural history of ataxia-telangiectasia (A-T): A systematic review
作者
关键词
Ataxia, Ataxia-telangiectasia, Cancer detection and diagnosis, Lung and intrathoracic tumors, Antibodies, Diagnostic medicine, Dystonia, Leukemia
出版物
PLoS One
Volume 17, Issue 3, Pages e0264177
出版商
Public Library of Science (PLoS)
发表日期
2022-03-16
DOI
10.1371/journal.pone.0264177
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Dysarthria in children and adults with ataxia telangiectasia
- (2021) Stefanie J G Veenhuis et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia
- (2021) Jacob Bistritzer et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- New human immunoglobulin in Brazil: should we use?
- (2021) Caroline Ferreira et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers
- (2021) Itana Gomes Alves Andrade et al. Orphanet Journal of Rare Diseases
- The spectrum of ATM gene mutations in Iranian patients with ataxia‐telangiectasia
- (2021) Parisa Amirifar et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia
- (2021) R.A. Dineen et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
- (2021) Ali S. Shalash et al. NEUROGENETICS
- The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia
- (2021) Ana Méndez-Echevarría et al. Viruses-Basel
- POS1374 RHEUMATOLOGIC DISEASES AS PRESENTATIONS OF PRIMARY IMMUNODEFICIENCY DISEASES
- (2021) S. Kudryashov et al. ANNALS OF THE RHEUMATIC DISEASES
- Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
- (2021) Hoo Young Lee et al. BMC Medical Genomics
- The incidence and type of cancer in patients with ataxia‐telangiectasia via a retrospective single‐centre study
- (2021) Shahrzad Bakhtiar et al. BRITISH JOURNAL OF HAEMATOLOGY
- The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay
- (2021) C. Kelaidi et al. Familial Cancer
- Normal Numbers of Stem Cell Memory T Cells Despite Strongly Reduced Naive T Cells Support Intact Memory T Cell Compartment in Ataxia Telangiectasia
- (2021) Thomas J. Weitering et al. Frontiers in Immunology
- Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients
- (2020) Luis Velázquez-Pérez et al. CEREBELLUM
- Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients
- (2020) Parisa Amirifar et al. IMMUNOLOGICAL INVESTIGATIONS
- The importance of phenotypic information to guide genetic testing
- (2020) Anna Ritchie et al. PATHOLOGY
- The evaluation of malignancies in Turkish PID patients; a multicenter study
- (2020) Sukru Cekic et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy
- (2020) Jennifer L. McKinney et al. CHILDS NERVOUS SYSTEM
- A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia
- (2020) Hussein Algahtani et al. INTERNATIONAL JOURNAL OF NEUROSCIENCE
- Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild‐type TP53 and mutant KRAS, G3BP1 and IL7R
- (2020) Mae A. Goldgraben et al. PEDIATRIC BLOOD & CANCER
- Melanoma arising in a patient with ataxia‐telangiectasia: A call for full skin examinations in this patient population
- (2020) Sandra Oska et al. PEDIATRIC DERMATOLOGY
- DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype
- (2020) Sharon A. McGrath-Morrow et al. Scientific Reports
- Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study
- (2020) Sandra Wölke et al. CLINICAL IMMUNOLOGY
- Agreement of cardiovascular risk in ataxia-telangiectasia mutated heterozygotes and their children with Ataxia-telangiectasia
- (2020) Talita Lemos Neves Barreto et al. Expert Opinion on Orphan Drugs
- Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)
- (2020) Reza Asadollahi et al. Molecular Genetics & Genomic Medicine
- Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report
- (2020) Xiao-Ling Li et al. World Journal of Clinical Cases
- Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM
- (2020) Simone Schröder et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 58P An atypical late-onset case of homozygous ATM variant supported by a complex molecular mechanism of mosaic uniparental isodisomy
- (2020) S. Nambot ANNALS OF ONCOLOGY
- Altered Cerebrospinal Fluid (CSF) in Children with Ataxia Telangiectasia
- (2020) S. Woelke et al. CEREBELLUM
- Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia
- (2020) Tannaz Moeini Shad et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin
- (2020) Samya Chakravorty et al. Scientific Reports
- Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)
- (2020) Sara Barmettler et al. Journal of Allergy and Clinical Immunology-In Practice
- Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation
- (2020) Minkyeong Kim et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- 18303 Ataxia telangiectasia and melanoma: The role of dermatology in ataxia telangiectasia
- (2020) Sandra Oska et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients
- (2020) Martin Bucher et al. MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
- Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
- (2020) Aleksandra Szczawińska-Popłonyk et al. Frontiers in Pediatrics
- A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas
- (2019) Heather Minto et al. CLINICAL IMMUNOLOGY
- Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
- (2019) David Buchbinder et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome
- (2019) Robert Duffy et al. PEDIATRIC DERMATOLOGY
- Ataxia‐telangiectasia: A review of clinical features and molecular pathology
- (2019) Parisa Amirifar et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature
- (2019) S. Leclerc‐Mercier et al. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
- Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
- (2019) Nienke J H van Os et al. JOURNAL OF MEDICAL GENETICS
- Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma
- (2019) Ludmila Perelygina et al. JOURNAL OF CLINICAL IMMUNOLOGY
- ATM mutation spectrum in Russian children with ataxia-telangiectasia
- (2019) Evgeny Suspitsin et al. European Journal of Medical Genetics
- Functional classification of ATM variants in ataxia‐telangiectasia patients
- (2019) Alice Fiévet et al. HUMAN MUTATION
- Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia
- (2019) Aysenur Bahadir et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Assessment of vitamin D status in common variable immunodeficiency or ataxia–telangiectasia patients
- (2019) J.R.S. Cruz et al. ALLERGOLOGIA ET IMMUNOPATHOLOGIA
- Multiple café-au-lait macules and movement disorder: think beyond neurofibromatosis
- (2019) Priyanka Madaan et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Hepatosplenic αβ T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia
- (2019) Michelle F. Jacobs et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Functional parameter measurements in children with ataxia telangiectasia
- (2019) Efrat Shenhod et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report
- (2019) Liping Zhang et al. CHILDS NERVOUS SYSTEM
- Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective
- (2019) M. H. D. Schoenaker et al. EUROPEAN JOURNAL OF PEDIATRICS
- Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature
- (2019) Parisa Amirifar et al. IMMUNOLOGICAL INVESTIGATIONS
- Classic ataxia-telangiectasia: the phenotype of long-term survivors
- (2019) Nienke J. H. van Os et al. JOURNAL OF NEUROLOGY
- Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia
- (2019) Sei-Gyung K. Sze et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey
- (2019) Hatice Mutlu-Albayrak et al. NEUROGENETICS
- EBV‐directed viral‐specific T‐lymphocyte therapy for the treatment of EBV‐driven lymphoma in two patients with primary immunodeficiency and DNA repair defects
- (2019) Jeremy D. Rubinstein et al. PEDIATRIC BLOOD & CANCER
- Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience
- (2019) Amarilla B. Mandola et al. Frontiers in Immunology
- Allogeneic stem cell transplantation after Fanconi anemia conditioning in children with ataxia-telangiectasia results in stable T-cell engraftment and lack of infections despite mixed chimerism
- (2018) Marek Ussowicz et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia
- (2018) Alexander Krauthammer et al. BMC Pediatrics
- Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population
- (2018) Wasil Jastaniah et al. Cancer Epidemiology
- Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms
- (2018) M.H.D. Schoenaker et al. European Journal of Medical Genetics
- Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study
- (2018) E. Cirillo et al. EUROPEAN JOURNAL OF NEUROLOGY
- Efficacy, safety and quality of life in patients receiving subcutaneous IgG treatment: experience in Bogotá, Colombia
- (2018) María Claudia Ortega-López et al. Immunotherapy
- A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome
- (2018) Mehmet H. Celiksoy et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
- (2018) Noufa Alonazi et al. Neurosciences
- Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia
- (2018) Alexander Krauthammer et al. NUTRITION
- Ataxia-Telangiectasia Clinical and Laboratory Features: Single Center Results
- (2018) Ayse Senay Sasihuseyinoglu et al. Pediatric Allergy Immunology and Pulmonology
- Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series
- (2018) Saba Sheikhbahaei et al. BMC Pregnancy and Childbirth
- Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8
- (2018) Mariana T. De Souza et al. Annals of Laboratory Medicine
- Secondary enuresis and urological manifestations in children with ataxia telangiectasia
- (2018) Andreea Nissenkorn et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry
- (2018) Jessica Leung et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations
- (2018) Analia Mijalovsky et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia
- (2018) Franziska Hoche et al. CEREBELLUM
- Variant ataxia-telangiectasia with prominent camptocormia
- (2018) Martin Paucar et al. PARKINSONISM & RELATED DISORDERS
- Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia
- (2018) Shahrzad Bakhtiar et al. Frontiers in Immunology
- Unspecific white matter hyperintensity in T2-weighted imaging and dystonia as the first manifestations of ataxia telangiectasia
- (2017) H. Kölbel et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- The clinical significance of complete class switching defect in Ataxia telangiectasia patients
- (2017) Saleh Ghiasy et al. Expert Review of Clinical Immunology
- A new ataxia-telangiectasia mutation in an 11-year-old female
- (2017) Esmaeil Mortaz et al. IMMUNOGENETICS
- CPID 2: A RARE CASE OF PULMONARY LYMPHOMATOID GRANULOMATOSIS IN A PATIENT WITH ATAXIA TELANGIECTASIA
- (2017) N Kaur et al. INTERNAL MEDICINE JOURNAL
- Audiological findings in children with ataxia-telangiectasia (A-T) syndrome
- (2017) Pretty O. Afifi et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Ataxia Telangiectasia Presenting with Hypogammaglobulinemia and High IgM Levels, Cutaneous Granulomas, and Expansion of CD21(lo) T-bet(+) B Cells
- (2017) Heather B. Minto et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Infectious and non-infectious complications in primary immunodeficiency disorders: an autopsy study from North India
- (2017) Kirti Gupta et al. JOURNAL OF CLINICAL PATHOLOGY
- New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation
- (2017) Jasmin Roohi et al. JOURNAL OF HUMAN GENETICS
- A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis
- (2017) Mohammad Amin Tabatabaiefar et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Refractory status dystonicus in ataxia telangiectasia
- (2017) Ravi Yadav et al. NEUROLOGY INDIA
- Neurovisual Assessment in Children with Ataxia Telangiectasia
- (2017) Jessica Galli et al. NEUROPEDIATRICS
- Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
- (2017) Talita Lemos Paulino et al. Orphanet Journal of Rare Diseases
- Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy
- (2017) Renate Krüger et al. PEDIATRIC ALLERGY AND IMMUNOLOGY
- Ataxia Telangiectasia and Juvenile Idiopathic Arthritis
- (2017) Agneza Marija Pasini et al. PEDIATRICS
- Defective pneumococcal antibody response in patients with recurrent respiratory tract infections
- (2017) Baran Erman et al. TURKISH JOURNAL OF PEDIATRICS
- Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients
- (2017) Hacer Akturk et al. World Journal of Pediatrics
- Primary Immunodeficiency Disorders in India—A Situational Review
- (2017) Ankur Kumar Jindal et al. Frontiers in Immunology
- Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?
- (2017) E. Azarsiz et al. INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY
- Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs
- (2016) Ashmi Doshi et al. ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
- Ataxia telangiectasia: presentation and diagnostic delay
- (2016) Rebecca Devaney et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Growth and nutrition in children with ataxia telangiectasia
- (2016) Emma Stewart et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma
- (2016) R Beier et al. BONE MARROW TRANSPLANTATION
- Deep Brain Stimulation in Rare Inherited Dystonias
- (2016) Isabelle Beaulieu-Boire et al. Brain Stimulation
- Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia
- (2016) Michael S Salman et al. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
- Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies: Table 1.
- (2016) Bénédicte Neven et al. CLINICAL INFECTIOUS DISEASES
- Longitudinal analysis of the neurological features of ataxia-telangiectasia
- (2016) Thomas J Jackson et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia
- (2016) Maureen A Lefton-Greif et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents
- (2016) A. Attarbaschi et al. HAEMATOLOGICA
- Bilateral maculopathy in a patient with ataxia telangiectasia
- (2016) Lauren V. Gioia et al. JOURNAL OF AAPOS
- Ataxia Telangiectasia Presenting with Absent IgG, IgA, and Elevated IgM
- (2016) Michelle Korah-Sedgwick et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Case Series of Tolerability of SCIg in Young Adults with Ataxia Telangiectasia
- (2016) Vivian P. Hernandez-Trujillo et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Lymphoma Secondary to Congenital and Acquired Immunodeficiency Syndromes at a Turkish Pediatric Oncology Center
- (2016) Hikmet G. Tanyildiz et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Ataxia telangiectasia associated with nodular regenerative hyperplasia
- (2016) Ki L. Milligan et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital’s 5-Year Experience
- (2016) Nermeen Galal et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Noninfectious Granulomas
- (2016) Ilya Shoimer et al. JOURNAL OF CUTANEOUS MEDICINE AND SURGERY
- Liver Disease in Pediatric Patients With Ataxia Telangiectasia
- (2016) Batia Weiss et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- Serum Interleukin-6 Levels and Pulmonary Function in Ataxia-Telangiectasia
- (2016) Sharon A. McGrath-Morrow et al. JOURNAL OF PEDIATRICS
- Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders
- (2016) Maria Piane et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia
- (2016) Hua-Shan Liu et al. NEUROLOGY
- Magnetic resonance imaging of ataxia-telangiectasia
- (2016) Gokhan Kuyumcu et al. NEUROLOGY INDIA
- Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia
- (2016) Diana Carranza et al. NEUROMOLECULAR MEDICINE
- Gait Disturbances and Unspecific White Matter Hyperintensity in T2-Weighted Imaging as the First Manifestation of an Ataxia Telangiectasia
- (2016) H. Kölbel et al. NEUROPEDIATRICS
- Novel ATM mutations with ataxia-telangiectasia
- (2016) Xiao-Li Liu et al. NEUROSCIENCE LETTERS
- Ataxia telangiectasia: a review
- (2016) Cynthia Rothblum-Oviatt et al. Orphanet Journal of Rare Diseases
- Clinical profile of hundred patients with ataxia telangiectasia from India
- (2016) Manjunath Mahadevappa et al. PARKINSONISM & RELATED DISORDERS
- Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort
- (2016) Andreea Nissenkorn et al. PEDIATRIC RESEARCH
- Diagnosis of pneumothorax without exposure to ionising radiation
- (2016) Rosa Maria Ammendola et al. THORAX
- Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia
- (2016) Gülşah Malkoçoğlu et al. TURKISH JOURNAL OF PEDIATRICS
- An unusual manifestation: papillary thyroid carcinoma in a patient with ataxia-telengiectasia
- (2016) Ezgi Ulusoy et al. TURKISH JOURNAL OF PEDIATRICS
- Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents
- (2016) A. Attarbaschi et al. HAEMATOLOGICA
- Ataxia-telangiectasia with female fertility
- (2015) Angelika J. Dawson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ataxia telangiectasia
- (2015) Letícia Sauma et al. ARQUIVOS DE NEURO-PSIQUIATRIA
- Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia
- (2015) Tojo Nakayama et al. BRAIN & DEVELOPMENT
- Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy
- (2015) B.M. Jonkman-Berk et al. CLINICAL IMMUNOLOGY
- Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment
- (2015) Martje E. van Egmond et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome
- (2015) Amit Rawat et al. INDIAN JOURNAL OF PEDIATRICS
- Newborn Screening for Severe Combined Immunodeficiency (SCID) Leads to Early Identification of Ataxia-Telangiectasia (AT) Complicated By Neutropenia: A Case Report
- (2015) Tara Shankar et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)
- (2015) Bandar Al-Saud et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988–2012)
- (2015) Fethi Mellouli et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age
- (2015) Niraj C. Patel et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies
- (2015) Felipe Suarez et al. JOURNAL OF CLINICAL ONCOLOGY
- Clinical variability in ataxia–telangiectasia
- (2015) Ebba Lohmann et al. JOURNAL OF NEUROLOGY
- Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention
- (2015) Lynda J Ross et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- Epstein-Barr Virus–associated Extranodal Marginal Zone Lymphoma of Mucosa-associated Lymphoid Tissue (MALT Lymphoma) Arising in the Parotid Gland of a Child With Ataxia Telangiectasia
- (2015) Jennifer A. Bennett et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- T-cell ALL in Ataxia Telangiectasia Cured With Only 7 Weeks of Anti-leukemic Therapy
- (2015) Ditte S. Hersby et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Mucocutaneous leishmaniasis in an 11-year-old girl with ataxia telangectasia – case report
- (2015) Safa S. Elfaituri et al. Libyan Journal of Medicine
- Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia
- (2015) Michael S. Salman et al. NEURO-OPHTHALMOLOGY
- Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study
- (2015) H. Pommerening et al. Orphanet Journal of Rare Diseases
- Non-Hodgkin lymphoma in children with an associated inherited condition: A retrospective analysis of the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP)
- (2015) Maurizio Aricò et al. PEDIATRIC BLOOD & CANCER
- Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab
- (2015) Stefan Zielen PEDIATRIC BLOOD & CANCER
- Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotin and reduced COPP plus rituximab
- (2015) Michael T. Meister et al. PEDIATRIC BLOOD & CANCER
- FVC deterioration, airway obstruction determination, and life span in Ataxia telangiectasia
- (2015) Daphna Vilozni et al. RESPIRATORY MEDICINE
- Malignancies in Primary Immunodeficiencies: A Single Center Experience
- (2015) Turkan Patiroglu et al. Pediatric Allergy Immunology and Pulmonology
- Poster 217 Adult Onset Ataxia-Telangiectasia with Left Lower Leg Malignant Sarcoma Requiring Left Knee Disarticulation Amputation: A Case Report
- (2015) Holly A. Pajor et al. PM&R
- Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
- (2015) Ishani Sahama et al. NeuroImage-Clinical
- Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective
- (2015) Zhao Chen et al. PLoS One
- Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives
- (2014) Nora D. Volkow et al. BRAIN
- Ataxia-Telangiectasia: Atypical Presentation and Toxicity of Cancer Treatment
- (2014) Rochelle A. Yanofsky et al. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
- Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients
- (2014) C. Chopra et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency
- (2014) C. Bodemer et al. CLINICAL MICROBIOLOGY AND INFECTION
- Microbiological surveillance in lung disease in ataxia telangiectasia
- (2014) J. M. Bhatt et al. EUROPEAN RESPIRATORY JOURNAL
- Immediate infusion-related adverse reactions to intravenous immunoglobulin in a prospective cohort of 1765 infusions
- (2014) Danielli C. Bichuetti-Silva et al. INTERNATIONAL IMMUNOPHARMACOLOGY
- Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia
- (2014) Matan Kraus et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Class Switch Recombination Process in Ataxia Telangiectasia Patients with Elevated Serum Levels of IgM
- (2014) Payam Mohammadinejad et al. JOURNAL OF IMMUNOASSAY & IMMUNOCHEMISTRY
- The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia
- (2014) A. Meneret et al. NEUROLOGY
- Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial
- (2014) Luciana Chessa et al. Orphanet Journal of Rare Diseases
- Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment
- (2014) Emily D. Privette et al. PEDIATRIC DERMATOLOGY
- Cognitive Phenotype in Ataxia-Telangiectasia
- (2014) Franziska Hoche et al. PEDIATRIC NEUROLOGY
- A Rare Case of Ataxia Telangiectasia in a 9-Year-Old Female Child
- (2014) Jakkampudi Nagasravani et al. PEDIATRIC NEUROLOGY
- Ataxia-Telangiectasia with Novel Splicing Mutations in theATMGene
- (2014) Heejeong Jeong et al. Annals of Laboratory Medicine
- Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
- (2013) D.D.M. Lin et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Discovery at the Bedside
- (2013) Ohad Oren ANNALS OF INTERNAL MEDICINE
- The German national registry for primary immunodeficiencies (PID)
- (2013) B. Gathmann et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada
- (2013) Michael S Salman et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia
- (2013) Tadashi Onoda et al. EUROPEAN JOURNAL OF HAEMATOLOGY
- Detection of Acute Lymphoblastic Leukemia Involvement in Pleural Fluid in an Adult Patient with Ataxia Telangiectasia by Flow Cytometry Method
- (2013) Muzaffer Keklik et al. INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
- Non Invasive Assessment of Lung Disease in Ataxia Telangiectasia by High-Field Magnetic Resonance Imaging
- (2013) Silvia Montella et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia
- (2013) Aasef G. Shaikh et al. JOURNAL OF NEUROLOGY
- Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia
- (2013) Matthis Synofzik et al. JOURNAL OF NEUROLOGY
- Non-Hodgkin B-cell Lymphoma of the Ovary in a Child with Ataxia-Telangiectasia
- (2013) C.S. Danby et al. Journal of Pediatric and Adolescent Gynecology
- Gastric Signet Ring Carcinoma in a Patient With Ataxia-Telangiectasia
- (2013) Turkan Patiroglu et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Ataxia-Telangiectasia and Wilms Tumor
- (2013) Ana Pérez-Villena et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab
- (2013) Shizuka Machida et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Dermatologic manifestations of ataxia-telangiectasia syndrome
- (2013) Shoshana Greenberger et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
- (2013) G. Charlesworth et al. NEUROLOGY
- Variant Ataxia Telangiectasia: Clinical and Molecular Findings and Evaluation of Radiosensitive Phenotypes in a Patient and Relatives
- (2013) Kathleen Claes et al. NEUROMOLECULAR MEDICINE
- Erratum to: Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients
- (2013) Yu Huang et al. NEUROMOLECULAR MEDICINE
- Molecular Defects in Moroccan Patients with Ataxia-Telangiectasia
- (2013) L. Jeddane et al. NEUROMOLECULAR MEDICINE
- Case report: oculomotor apraxia in ataxia telangiectasia
- (2013) T Langhagen et al. NEUROPEDIATRICS
- Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia
- (2013) Gemma Cummins et al. PARKINSONISM & RELATED DISORDERS
- Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies
- (2013) J.T. Sandlund et al. PEDIATRIC BLOOD & CANCER
- Characteristics of Children with Non-Hodgkin Lymphoma Associated with Primary Immune Deficiency Diseases: Descriptions of Five Patients
- (2013) Suna Emir et al. PEDIATRIC HEMATOLOGY AND ONCOLOGY
- Acute Lymphoblastic Leukemia in Early Childhood as the Presenting Sign of Ataxia-Telangiectasia Variant
- (2013) Bella Bielorai et al. PEDIATRIC HEMATOLOGY AND ONCOLOGY
- Clinical Features and Genetic Analysis of Taiwanese Patients With the Hyper IgM Syndrome Phenotype
- (2013) Wen-I Lee et al. PEDIATRIC INFECTIOUS DISEASE JOURNAL
- Ataxia Telangiectasia in a Three-Year-Old-Girl
- (2013) Kathryn Anne Hosking et al. PEDIATRIC NEUROLOGY
- Infections of the respiratory system in patients with ataxia-telangiectasia
- (2013) Scott A. Schroeder et al. PEDIATRIC PULMONOLOGY
- Pulmonary function in children and young adults with ataxia telangiectasia
- (2013) Sharon A. McGrath-Morrow et al. PEDIATRIC PULMONOLOGY
- Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia
- (2013) Erika Félix et al. PEDIATRIC PULMONOLOGY
- Disorders of Upper Limb Movements in Ataxia-Telangiectasia
- (2013) Aasef G. Shaikh et al. PLoS One
- The management of hyperleukocytosis in an adult patient with acute lymphoblastic leukemia and ataxia-telangiectasia
- (2013) Muzaffer Keklik et al. TRANSFUSION AND APHERESIS SCIENCE
- Identification ofATMMutations in Korean Siblings with Ataxia-Telangiectasia
- (2013) Hee Jae Huh et al. Annals of Laboratory Medicine
- A Case Report of T Cell Prolymphocytic Leukemia and Kaposi Sarcoma and a Review of T Cell Prolymphocytic Leukemia
- (2012) R.N. Paul et al. ACTA HAEMATOLOGICA
- 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
- (2012) M Ussowicz et al. BONE MARROW TRANSPLANTATION
- Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task
- (2012) Mario Quarantelli et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Diagnostic Approach to Childhood-Onset Cerebellar Atrophy
- (2012) Almundher Al-Maawali et al. JOURNAL OF CHILD NEUROLOGY
- The Prevalances and Patient Characteristics of Primary Immunodeficiency Diseases in Turkey—Two Centers Study
- (2012) Sara S. Kilic et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia
- (2012) Jacob Mallott et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Fatal Outcome Despite Full Lympho-Hematopoietic Reconstitution After Allogeneic Stem Cell Transplantation in Atypical Ataxia Telangiectasia
- (2012) Sujal Ghosh et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia
- (2012) Guida Landouré et al. JOURNAL OF NEUROLOGY
- Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia
- (2012) Paul F. Worth et al. MOVEMENT DISORDERS
- A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
- (2012) Raffaella Zannolli et al. MOVEMENT DISORDERS
- Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
- (2012) R. Saunders-Pullman et al. NEUROLOGY
- Ataxia Telangiectasia (AT) as a radiation sensitivity syndrom and limits of radiotherapeutic intervention
- (2012) F Hoche et al. NEUROPEDIATRICS
- Ataxia-Telangiectasia Presenting With a Novel Immunodeficiency
- (2012) Sébastien Perreault et al. PEDIATRIC NEUROLOGY
- Malignant pleural mesothelioma in a child with ataxia-telangiectasia
- (2012) Christian Rosas-Salazar et al. PEDIATRIC PULMONOLOGY
- P-43 THE CONTROL OF ACUTE LYMPHOBLASTIC LEUKAEMIA CAUSED HYPERLEUKOCYTOSIS WITH LEUKOPHERESIS ON AN ADULT ATAXIA-TELANGIECTASIA PATIENT
- (2012) M. Keklik et al. TRANSFUSION AND APHERESIS SCIENCE
- Colangitis esclerosante, ataxia-telangiectasia y enfermedad de Hodgkin
- (2011) M. Tallón García et al. ANALES DE PEDIATRIA
- Alpha-fetoprotein as a biomarker for recessive ataxias
- (2011) Pedro Braga-Neto et al. ARQUIVOS DE NEURO-PSIQUIATRIA
- Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia
- (2011) P J Byrd et al. BRITISH JOURNAL OF CANCER
- Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours
- (2011) A Reiman et al. BRITISH JOURNAL OF CANCER
- Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey
- (2011) Klaus Bienemann et al. BRITISH JOURNAL OF HAEMATOLOGY
- The European internet-based patient and research database for primary immunodeficiencies: update 2011
- (2011) B. Gathmann et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia
- (2011) Andrew Robert Exley et al. CLINICAL IMMUNOLOGY
- Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?
- (2011) L.Y.T. Chiam et al. DERMATOLOGY
- Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study
- (2011) Mijke M. M. Verhagen et al. HUMAN MUTATION
- Hepatic non-Hodgkin lymphoma and hepatoblastoma complicating ataxia-telangiectasia
- (2011) Valerio Cecinati et al. IMMUNOPHARMACOLOGY AND IMMUNOTOXICOLOGY
- H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype
- (2011) L. Mesci et al. International Journal of Immunogenetics
- Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
- (2011) Romain Micol et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease?
- (2011) Andreea Nissenkorn et al. JOURNAL OF PEDIATRICS
- Beidseitige konjunktivale Manifestation eines generalisierten, multifokalen Kaposi-Sarkoms bei Ataxia teleangiectatica (Louis-Bar-Syndrom)
- (2011) M. Keserü et al. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
- Patient with ataxia telangiectasia who developed acute myeloid leukemia
- (2011) Annamaria Brioli et al. LEUKEMIA & LYMPHOMA
- New mutations in the ATM gene and clinical data of 25 AT patients
- (2011) Ilja Demuth et al. NEUROGENETICS
- Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
- (2011) Jana Soukupova et al. NEUROMOLECULAR MEDICINE
- Neuropathology in classical and variant ataxia-telangiectasia
- (2011) Mijke M.M. Verhagen et al. NEUROPATHOLOGY
- Heterotopic Purkinje cells in ataxia-telangiectasia
- (2011) Alexander R. Bottini et al. NEUROPATHOLOGY
- Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia
- (2011) Maureen A Lefton-Greif et al. Orphanet Journal of Rare Diseases
- Skin Manifestations in Primary Immunodeficient Children
- (2011) Waleed Al-Herz et al. PEDIATRIC DERMATOLOGY
- Cognitive and speech-language performance in children with ataxia telangiectasia
- (2011) Anja Vinck et al. Developmental Neurorehabilitation
- Neurocutaneous syndrome: A prospective study
- (2011) Tryambak Samanta et al. INDIAN JOURNAL OF DERMATOLOGY
- A CASE OF ATAXIA-TELANGIECTASIA WITH LESIONS IN THE SPINAL CORD
- (2010) Patrick Sourander et al. ACTA NEUROLOGICA SCANDINAVICA
- Ataxia telangiectasia syndrome with B cell lymphoma
- (2010) Hideo Kaneko et al. CLINICAL GENETICS
- Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient
- (2010) Krystina Chrzanowska et al. CLINICAL GENETICS
- The French national registry of primary immunodeficiency diseases
- (2010) CLINICAL IMMUNOLOGY
- Atypical Variants of the ‘Ataxia Telangiectasia’ Syndrome
- (2010) Richmond S. Paine et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Nerve Conduction Studies in Children with Friedreich's Ataxia and Ataxia-telangiectasia
- (2010) Henry G. Dunn DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Aetiology of intellectual disability in paediatric outpatients in Northern India
- (2010) PRASHANT JAUHARI et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia
- (2010) T. Broccoletti et al. EUROPEAN JOURNAL OF NEUROLOGY
- Erratum to: BAK, BAX, and NBK/BIK Proapoptotic Gene Alterations in Iranian Patients with Ataxia Telangiectasia
- (2010) Anna Isaian et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Child With Ataxia Telangiectasia Developing Acute Myeloid Leukemia
- (2010) Chien-Heng Lin et al. JOURNAL OF CLINICAL ONCOLOGY
- Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia
- (2010) Gabriella Silvestri et al. JOURNAL OF NEUROLOGY
- POG02 Variant ataxia telangiectasia in siblings with normal -fetoprotein levels
- (2010) C. Albertyn et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Fatal hemoptysis in a child with ataxia-telangiectasia: Zeroing down on the rare cause
- (2010) P Vaideeswar et al. Journal of Postgraduate Medicine
- Complicated but Successful Treatment of a Patient with Ataxia Telangiectasia and Pre-B-Acute Lymphoblastic Leukemia
- (2010) B. Brummel et al. KLINISCHE PADIATRIE
- The feasibility and validity of forced spirometry in ataxia telangiectasia
- (2010) Daphna Vilozni et al. PEDIATRIC PULMONOLOGY
- Reversible airway obstruction in children with ataxia telangiectasia
- (2010) Yackov Berkun et al. PEDIATRIC PULMONOLOGY
- Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
- (2009) J G Noordzij et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
- (2009) A. K. Erichsen et al. BRAIN
- Extracerebellar MRI—Lesions in Ataxia Telangiectasia Go Along with Deficiency of the GH/IGF-1 Axis, Markedly Reduced Body Weight, High Ataxia Scores and Advanced Age
- (2009) Matthias Kieslich et al. CEREBELLUM
- Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan
- (2009) Tomohiro Morio et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Gaze fixation deficits and their implication in ataxia-telangiectasia
- (2009) A G Shaikh et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Ataxia-Telangiectasia With Hyper-IgM and Wilms Tumor: Fatal Reaction to Irradiation
- (2009) Barbara Maria Pietrucha et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Idiopathic Thrombocytopenic Purpura in a Boy With Ataxia Telangiectasia on Immunoglobulin Replacement Therapy
- (2009) Jonathon Heath et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
- (2009) M. Anheim et al. NEUROGENETICS
- Brain MRI Abnormalities in Ataxia-Telangiectasia
- (2009) Mario Habek et al. NEUROLOGIST
- Ataxia-telangiectasia: Without ataxia or telangiectasia?
- (2009) R. J. Saunders-Pullman et al. NEUROLOGY
- Clinical spectrum of ataxia-telangiectasia in adulthood
- (2009) M.M.M. Verhagen et al. NEUROLOGY
- Uncommon Associations with Ataxia-Telangiectasia: Vitiligo and Optic Disc Drusen
- (2009) Ayça Sari et al. OPHTHALMIC GENETICS
- Rituximab as monotherapy and in addition to reduced CHOP in children with primary immunodeficiency and non-Hodgkin lymphoma
- (2009) Shimrit Shabbat et al. PEDIATRIC BLOOD & CANCER
- Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature
- (2009) Iyore A Otabor et al. World Journal of Surgical Oncology
- Haemorrhagic cystitis and polyomavirus JC infection in ataxia telangiectasia
- (2009) Martin Christmann et al. Journal of Pediatric Urology
- Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation
- (2008) Jonathan M Cohen et al. ACTA PAEDIATRICA
- Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia
- (2008) Fatima Carrillo et al. CEREBELLUM
- Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
- (2008) E. R. Staples et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia
- (2008) Paola Porcedda et al. CYTOMETRY PART A
- Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients
- (2008) T. Broccoletti et al. EUROPEAN JOURNAL OF NEUROLOGY
- Spectrum of primary immune deficiency at a tertiary care hospital
- (2008) Sumit Verma et al. INDIAN JOURNAL OF PEDIATRICS
- Uncommon skin lesion in a patient with ataxia-telangiectasia
- (2008) Chinedu Ivonye et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- Ataxia-Telangiectasia: Clinical, Laboratorial and Mutational Analysis of Patients from a Reference Center for Primary Immunodeficiency
- (2008) C JACOB et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor β1 deficiency and ataxia-telangiectasia
- (2008) Mohammad Ehlayel et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Primary Immunodeficiency Diseases in Egyptian Children: A Single-Center Study
- (2008) Shereen M. Reda et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Attenuated presentation of ataxia-telangiectasia with familial cancer history
- (2008) C. Simonin et al. JOURNAL OF NEUROLOGY
- Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family
- (2008) A. Soresina et al. NEUROPEDIATRICS
- B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA IN A CHILD WITH ATAXIA TELANGIECTASIA
- (2008) Lalit M. Sharma et al. PEDIATRIC HEMATOLOGY AND ONCOLOGY
- Vesical varices and telangiectasias in a patient with ataxia telangiectasia
- (2008) Koichi Suzuki et al. PEDIATRIC NEPHROLOGY
- Polysomnographic values in adolescents with ataxia telangiectasia
- (2008) Sharon A. McGrath-Morrow et al. PEDIATRIC PULMONOLOGY
- The Wobbly Child: An Approach to Inherited Ataxias
- (2008) Genevieve Bernard et al. Seminars in Pediatric Neurology
- Primary cutaneous Epstein-Barr virus–related lymphoproliferative disorders in 4 immunosuppressed children
- (2007) Nadège Wallet-Faber et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia
- (2006) Benoit Brasseur et al. PEDIATRIC BLOOD & CANCER
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