Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

American Journal of Human Genetics

Volumn 95, Issue 5, 2014, Pages 565-578

  Carvalho, Claudia M B ^a,b   Vasanth, Shivakumar ^c   Shinawi, Marwan ^d   Russell, Chad ^c   Ramocki, Melissa B ^a,e   Brown, Chester W ^a,e   Graakjaer, Jesper ^f   Skytte, Anne Bine ^f   Vianna Morgante, Angela M ^g   Krepischi, Ana C V ^g   Patel, Gayle S ^h   Immken, LaDonna ⁱ   Aleck, Kyrieckos ^j   Lim, Cynthia ^j   Cheung, Sau Wai ^a   Rosenberg, Carla ^g   Katsanis, Nicholas ^c   Lupski, James R ^a,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

^c DUKE UNIVERSITY   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

^f LILLEBAELT HOSPITAL   (Denmark)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h TEXAS ONCOLOGY   (United States)

ⁱ Specially for Children   (United States)

^j PHOENIX CHILDREN'S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DISHEVELLED 2; SHORT HAIRPIN RNA; ACADVL PROTEIN, HUMAN; ASGR1 PROTEIN, HUMAN; ASIALOGLYCOPROTEIN RECEPTOR; DISHEVELLED PROTEINS; GABARAP PROTEIN, HUMAN; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MICROTUBULE ASSOCIATED PROTEIN; PHOSPHOPROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

17P13.1 MICRODELETION SYNDROME; ACADVL GENE; ADOLESCENT; ALU SEQUENCE; APOPTOSIS; ARTICLE; ASGR1 GENE; CELL CYCLE G2 PHASE; CELL CYCLE M PHASE; CELL CYCLE S PHASE; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CLDN7 GENE; CLINICAL ARTICLE; COPY NUMBER VARIATION; CTDNEP1 GENE; DISHEVELLED 2 GENE; EMBRYO; EPISTASIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GABARAP GENE; GENE; GENE DOSAGE; GENE INTERACTION; GENE REARRANGEMENT; HEAD CIRCUMFERENCE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MITOSIS INDEX; NERVE CELL; NERVE CELL DIFFERENTIATION; NICK END LABELING; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH; ANIMAL; CELL LINE; CHROMOSOME 17; CHROMOSOME BREAKAGE; DNA SEQUENCE; FLOW CYTOMETRY; GENETICS; IMMUNOHISTOCHEMISTRY; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; SMITH MAGENIS SYNDROME; SYNDROME;

DANIO RERIO;

ABNORMALITIES, MULTIPLE; ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; ASIALOGLYCOPROTEIN RECEPTOR; BASE SEQUENCE; CELL LINE; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FLOW CYTOMETRY; GENE DOSAGE; HUMANS; IMMUNOHISTOCHEMISTRY; INTELLECTUAL DISABILITY; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; SMITH-MAGENIS SYNDROME; SYNDROME; ZEBRAFISH;

EID: 84922325674     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.006     Document Type: Article

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