Novel microduplications at Xp11.22 including HUWE1: Clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Journal of Human Genetics

Volumn 60, Issue 4, 2015, Pages 207-211

  Santos Reboucas, Cíntia Barros ^a   De Almeida, Luciana Guedes ^a   Belet, Stefanie ^b   Dos Santos, Suely Rodrigues ^c   Ribeiro, Márcia Goncąlves ^d   Da Silva, Antônio Francisco Alves ^a   Medina Acosta, Enrique ^a   Dos Santos, Jussara Mendoncą ^a   Goncąlves, Andressa Pereira ^a   Bahia, Paulo Roberto Valle ^d   Pimentel, Márcia Mattos Goncąlves ^a   Froyen, Guy ^b  

^a STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c HOSPITAL UNIVERSITÁRIO GAFFRÉE E GUINLE   (Brazil)

^d FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; RISPERIDONE; HUWE1 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; AGGRESSION; ALVEOLAR RIDGE; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BODY MASS; BRACHYCEPHALY; BRAZILIAN; CASE REPORT; CAUCASIAN; CESAREAN SECTION; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; CYTOGENETICS; DAILY LIFE ACTIVITY; ELECTROENCEPHALOGRAM; GAIT DISORDER; GAMETOGENESIS; GENE; GENE DUPLICATION; GENE OVEREXPRESSION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENOMICS; HEAD CIRCUMFERENCE; HIGH ARCHED PALATE; HUMAN; HYPERACTIVITY; HYPERTELORISM; HYPOPLASIA; IDIOPATHIC DISEASE; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LARGE EAR; MALAR HYPOPLASIA; MALE; METATARSAL BONE; NAIL HYPOPLASIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PHIMOSIS; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PROGNATHIA; QUANTITATIVE STUDY; SCHOOL CHILD; SEIZURE; SPEECH DELAY; TONIC CLONIC SEIZURE; WWE DOMAIN CONTAINING PROTEIN 1 GENE; XP11.22 DUPLICATION; CHROMOSOME DUPLICATION; FACIES; FEMALE; GENETICS; INTELLECTUAL DISABILITY; PEDIGREE; X CHROMOSOME;

ADOLESCENT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; DNA COPY NUMBER VARIATIONS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; PEDIGREE; UBIQUITIN-PROTEIN LIGASES;

EID: 84929093386     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.1     Document Type: Article

References (9)

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