Cargando…

Hematological abnormalities and 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rosa, Rafael Fabiano Machado, Rosa, Rosana Cardoso Manique, dos Santos, Pedro Paulo Albino, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Associação Brasileira de Hematologia e Hemoterapia 2011
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520641/ https://www.ncbi.nlm.nih.gov/pubmed/23284264 http://dx.doi.org/10.5581/1516-8484.20110037

Ejemplares similares

Anterior laryngeal membrane and 22q11 deletion syndrome
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2015)

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2014)

Craniofacial abnormalities among patients with Edwards Syndrome
por: Rosa, Rafael Fabiano M., et al.
Publicado: (2013)

Chromosomal Abnormalities in Patients with Congenital Heart Disease
por: Trevisan, Patrícia, et al.
Publicado: (2013)

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2015)

Tumor size and prognosis in patients with Wilms tumor
por: Provenzi, Valentina Oliveira, et al.
Publicado: (2015)

Cytogenetic profile of patients with Down syndrome in southern Brazil
por: Trevisan, Patrícia, et al.
Publicado: (2014)

Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome
por: Heung, Tracy, et al.
Publicado: (2022)

Abnormal development of early auditory processing in 22q11.2 Deletion Syndrome
por: Cantonas, Lucia-Manuela, et al.
Publicado: (2019)

Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome
por: Piervincenzi, Claudia, et al.
Publicado: (2022)

Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome
por: Kikinis, Zora, et al.
Publicado: (2018)

Abnormal Auditory Processing and Underlying Structural Changes in 22q11.2 Deletion Syndrome
por: Cantonas, Lucia-Manuela, et al.
Publicado: (2020)

Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers
por: Seitz-Holland, Johanna, et al.
Publicado: (2021)

Recurrent Evans Syndrome in a Patient With 22q11.2 Deletion Syndrome: An Uncommon Hematological Presentation
por: Oliveras-Cordero, Hector A, et al.
Publicado: (2020)

Obesity in adults with 22q11.2 deletion syndrome
por: Voll, S, et al.
Publicado: (2016)

Risk of malignancy in 22q11.2 deletion syndrome
por: Stevens, Toer, et al.
Publicado: (2017)

The Genetics and Epigenetics of 22q11.2 Deletion Syndrome
por: Du, Qiumei, et al.
Publicado: (2020)

Complement Activation in 22q11.2 Deletion Syndrome
por: Grinde, Dina, et al.
Publicado: (2020)

Laryngeal web with 22q11.2 deletion syndrome
por: Abe, Yasuhiro, et al.
Publicado: (2022)

Tonsillectomy in Children with 22q11.2 Deletion Syndrome
por: Arganbright, Jill M., et al.
Publicado: (2022)

Congenital heart disease and chromossomopathies detected by the karyotype
por: Trevisan, Patrícia, et al.
Publicado: (2014)

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2017)

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome
por: Schonherz, Yael, et al.
Publicado: (2014)

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
por: Cirillo, Emilia, et al.
Publicado: (2014)

Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis
por: Rogdaki, Maria, et al.
Publicado: (2020)

Evaluation of 22q11.2 deletion in Cleft Palate patients
por: Prabodha, L. B. Lahiru, et al.
Publicado: (2012)

Genotype-phenotype correlation in 22q11.2 deletion syndrome
por: Michaelovsky, Elena, et al.
Publicado: (2012)

Psychopathology and cognition in children with 22q11.2 deletion syndrome
por: Niarchou, Maria, et al.
Publicado: (2014)

Otologic and audiologic findings in 22q11.2 deletion syndrome
por: Verheij, E., et al.
Publicado: (2016)

Psychiatric Disorders Associated with 22q11.2 Deletion Syndrome
por: Gambini, Orsola
Publicado: (2016)

Disrupted anatomic networks in the 22q11.2 deletion syndrome
por: Schmitt, J. Eric, et al.
Publicado: (2016)

Visual processing deficits in 22q11.2 Deletion Syndrome
por: Biria, Marjan, et al.
Publicado: (2017)

Clinical variability of chromosome 22q11.2 deletion syndrome
por: Boyarchuk, Oksana, et al.
Publicado: (2017)

22q11.2 Deletion Syndrome–Associated Parkinson's Disease
por: Boot, Erik, et al.
Publicado: (2018)

Dopaminergic neurons in chromosome 22q11.2 deletion syndrome
por: Inoue, Haruhisa
Publicado: (2021)

22q11.2 Deletion and Duplication Syndromes and COVID-19
por: Crowley, T. Blaine, et al.
Publicado: (2022)

Deletion Syndrome 22q11.2: A Systematic Review
por: Cortés-Martín, Jonathan, et al.
Publicado: (2022)

Clinical management of psychosis in 22q11.2 deletion syndrome
por: Iftimovici, Anton, et al.
Publicado: (2022)

Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
por: Palmer, Lisa D., et al.
Publicado: (2022)

The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)()
por: van den Bree, Marianne B.M., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_el787buaadqmj4ljedhqifgimh