Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

European Journal of Pediatrics

Volumn 172, Issue 7, 2013, Pages 927-945

  Monteiro, Fabíola P ^a   Vieira, Társis P ^a   Sgardioli, Ilária C ^a   Molck, Miriam C ^a   Damiano, Ana Paula ^a   Souza, Josiane ^b   Monlleó, Isabella L ^c,d   Fontes, Marshall I B ^c   Fett Conte, Agnes C ^e   Félix, Têmis M ^f   Leal, Gabriela F ^g   M ribeiro, Erlane ^h   Banzato, Claudio E M ^a   Dantas, Clarissa De R ^a   Lopes Cendes, Iscia ^a   Gil Da Silva Lopes, Vera Lúcia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^c Universidade Estadual de Alagoas   (Brazil)

^d FEDERAL UNIVERSITY OF ALAGOAS   (Brazil)

^e FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^f HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^g Fernando Figueira Institute of Integrated Medicine   (Brazil)

^h Hospital Infantil Albert Sabin   (Brazil)

Author keywords

Cleft palate; Clinical guidelines; Congenital cardiopathy; Cost effectiveness; Dysmorphology; Juvenile onset schizophrenia; Personalized medicine

Indexed keywords

ADOLESCENT; ADULT; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; CHILD; CHROMOSOME DELETION 22Q11; CLEFT LIP PALATE; CLINICAL EVALUATION; CLINICAL STUDY; CONGENITAL HEART DISEASE; COST EFFECTIVENESS ANALYSIS; DYSPHAGIA; FACE ASYMMETRY; GENETIC SCREENING; HUMAN; HYPOCALCEMIA; INFANT; KARYOTYPE; KARYOTYPING; LEARNING DISORDER; MAJOR CLINICAL STUDY; MENTAL DISEASE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PALATOPHARYNGEAL INCOMPETENCE; PERSONALIZED MEDICINE; PRACTICE GUIDELINE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; REVIEW; SCHIZOPHRENIA; SCHOOL CHILD; TERATOLOGY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PALATE; PRACTICE GUIDELINES AS TOPIC; SCHIZOPHRENIA, CHILDHOOD;

EID: 84880145749     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-1964-0     Document Type: Review

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