Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 295-301

  Palomares, María ^a,b   Delicado, Alicia ^b,c   Mansilla, Elena ^b,c   De Torres, María Luisa ^b,c   Vallespín, Elena ^a,b   Fernandez, Luis ^b,c   Martinez Glez, Victor ^a,b   García Miñaur, Sixto ^b,c   Nevado, Julián ^a,b   Simarro, Fernando Santos ^b,c   Ruiz Perez, Victor L ^b,d   Lynch, Sally Ann ^e   Sharkey, Freddie H ^f   Thuresson, Ann Charlotte ^g   Annerén, Göran ^g   Belligni, Elga F ^h   Martínez Fernández, María Luisa ^b,i   Bermejo, Eva ^b,i   Nowakowska, Beata ^j,k   Kutkowska Kazmierczak, Anna ^j   Bocian, Ewa ^j   Obersztyn, Ewa ^j   Martínez Frías, María Luisa ^b,i   Hennekam, Raoul C M ^l   Lapunzina, Pablo ^b,c   more..

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d CSIC   (Spain)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^f WESTERN GENERAL HOSPITAL   (United Kingdom)

^g UPPSALA UNIVERSITY   (Sweden)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ INSTITUTO DE SALUD CARLOS III   (Spain)

^j INSTITUTE OF MOTHER AND CHILD   (Poland)

^k UNIVERSITY OF LEUVEN   (Belgium)

^l UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MICRORNA; OLIGONUCLEOTIDE; TRANSCRIPTION FACTOR;

ADOLESCENT; ARTICLE; BALANCE IMPAIRMENT; BRAIN; CHILD; CHROMOSOME 8Q; CHROMOSOME DELETION; CHROMOSOME DELETION 8Q21; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; INTELLECTUAL IMPAIRMENT; LIVER; MALE; MUSCLE HYPOTONIA; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; PTOSIS; SCHOOL CHILD; SKELETAL MUSCLE; ZINC FINGER HOMEOBOX 4 GENE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SYNDROME;

EID: 80051670618     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.06.012     Document Type: Article

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