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Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 08/2019, Volume 10, p. 1871
Background: We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion.... 
7p22 | vasculitis | LYMPHOCYTE | CARMA1 | CGH array | 11 CARD11 | hypogammaglobulinemia | dysimmunity | IMMUNOLOGY | Genetic aspects | Immunodeficiency
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2015, Volume 52, Issue 1, pp. 61 - 70
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2016, Volume 24, Issue 6, pp. 844 - 851
Journal Article
Neuro-Oncology, ISSN 1522-8517, 06/2018, Volume 20, Issue suppl_2, pp. i131 - i132
Abstract Medulloblastoma (MB) is the most common malignant pediatric brain tumor. Despite the progress of new treatments, the risk of recurrence, morbidity,... 
Abstracts
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2015, Volume 23, Issue 8, pp. 1010 - 1018
Journal Article
Oncotarget, ISSN 1949-2553, 2018, Volume 9, Issue 20, pp. 15312 - 15325
Medulloblastoma (MB) is the most common malignant pediatric brain tumor. Despite the progress of new treatments, the risk of recurrence, morbidity, and death... 
Neuropilin-1 | Cancer stem cells | Cell differentiation | Peptidomimetic | Medulloblastoma | Life Sciences | Cancer
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2015, Volume 167, Issue 8, pp. 1897 - 1901
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 06/2016, Volume 36, Issue 6, pp. 523 - 529
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2015, Volume 167, Issue 8, pp. 1897 - 1901
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2010, Volume 152A, Issue 8, pp. 1933 - 1941
The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with... 
array‐CGH | semi‐quantitative methylation‐sensitive PCR | 15q11 duplication | visuo‐motor skills impairments | Array-CGH | Semi-quantitative methylation-sensitive PCR | Visuo-motor skills impairments | AUTISM | MATERNALLY DERIVED DUPLICATION | 15Q11-Q13 | PHENOTYPE | REARRANGEMENTS | array-CGH | visuo-motor skills impairments | CHROMOSOME REGION 15Q11Q13 | PROXIMAL 15Q | GENETICS & HEREDITY | semi-quantitative methylation-sensitive PCR | DISORDER | FISH | PATIENT | Gene Duplication | Genomic Imprinting | Autistic Disorder - pathology | Angelman Syndrome - psychology | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Angelman Syndrome - pathology | Prader-Willi Syndrome - psychology | DNA Methylation | Polymerase Chain Reaction | Angelman Syndrome - genetics | Prader-Willi Syndrome - genetics | Female | Child | Autistic Disorder - genetics | Intellectual Disability - pathology | In Situ Hybridization, Fluorescence | Psychometrics | Chromosomes, Human, Pair 15 - genetics | Autistic Disorder - psychology | Phenotype | Comparative Genomic Hybridization | Prader-Willi Syndrome - pathology | Pedigree | Adolescent | Intellectual Disability - psychology | Breakpoints | Microsatellites | Intelligence | Motor skill | Mental retardation | Polymerase chain reaction | Autism | Genetic markers | gene duplication | Fluorescence in situ hybridization | Hybridization analysis | genomics | chromosome 15
Journal Article