about
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.Three new patients with dup(17)(p11.2p11.2) without autism.Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females12q12 deletion: A new patient contributing to genotype–phenotype correlationSchizophrenia in a patient with subtelomeric duplication of chromosome 22qRare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsAn unusual presentation of Becker NevusDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersMutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophyBiallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorderDe novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Lucia Castiglia
@ast
Lucia Castiglia
@en
Lucia Castiglia
@es
Lucia Castiglia
@nl
Lucia Castiglia
@sl
type
label
Lucia Castiglia
@ast
Lucia Castiglia
@en
Lucia Castiglia
@es
Lucia Castiglia
@nl
Lucia Castiglia
@sl
prefLabel
Lucia Castiglia
@ast
Lucia Castiglia
@en
Lucia Castiglia
@es
Lucia Castiglia
@nl
Lucia Castiglia
@sl
P1053
D-8563-2017
P106
P1153
6602637805
P21
P31
P3829
P496
0000-0002-3261-8847