Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with phelan/mcdermid syndrome

PLoS Genetics

Volumn 7, Issue 7, 2011, Pages

  Bonaglia, Maria Clara ^a   Giorda, Roberto ^a   Beri, Silvana ^a   de Agostini, Cristina ^a   Novara, Francesca ^b   Fichera, Marco ^c   Grillo, Lucia ^c   Galesi, Ornella ^c   Vetro, Annalisa ^b   Ciccone, Roberto ^b   Bonati, Maria Teresa ^d   Giglio, Sabrina ^e,f   Guerrini, Renzo ^f   Osimani, Sara ^g   Marelli, Susan ^a   Zucca, Claudio ^a   Grasso, Rita ^a   Borgatti, Renato ^a   Mani, Elisa ^a   Motta, Cristina ^a   Molteni, Massimo ^a   Romano, Corrado ^c   Greco, Donatella ^c   Reitano, Santina ^c   Baroncini, Anna ^h   Lapi, Elisabetta ^e,f   Cecconi, Antonella ⁱ   Arrigo, Giulia ^b   Patricelli, Maria Grazia ^g   Pantaleoni, Chiara ^j   D'Arrigo, Stefano ^j   Riva, Daria ^j   Sciacca, Francesca ^j   Bernardina, Dalla Bernardo ^k   Zoccante, Leonardo ^k   Darra, Francesca ^k   Termine, Cristiano ^l   Maserati, Emanuela ^l   Bigoni, Stefania ^m   Priolo, Emanuela ⁿ   Bottani, Armand ^o   Gimelli, Stefania ^o   Bena, Frederique ^o   Brusco, Alfredo ^p   Gregorio, Eleonora ^p   Bagnasco, Irene ^q   Giussani, Ursula ^r   Nitsch, Lucio ^s   Politi, Pierluigi ^b   Martinez Frias, Maria Luisa ^t,u   Martínez Fernández, Maria Luisa ^t,u,v   Guardia, Nieves ^w   Bremer, Anna ^x   Anderlid, Britt Marie ^x   Zuffardi, Orsetta ^b,y   more..

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c OASI RESEARCH INSTITUTE IRCCS   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g SAN RAFFAELE HOSPITAL   (Italy)

^h Dipartimento Materno Infantile AUSL Imola   (Italy)

ⁱ SANTA MARIA ANNUNZIATA HOSPITAL   (Italy)

^j DEPARTMENT OF NEUROSURGERY   (Italy)

^k Azienda Ospedaliera Universitaria Integrata Policlinico GB Rossi   (Italy)

^l UNIVERSITY OF INSUBRIA   (Italy)

^m UNIVERSITY OF FERRARA   (Italy)

ⁿ Azienda Ospedaliera BBM   (Italy)

^o GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^p UNIVERSITY OF TURIN   (Italy)

^q Struttura Complessa NPI Ospedale Martini   (Italy)

^r OSPEDALI RIUNITI   (Italy)

^s UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^t UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^u INSTITUTO DE SALUD CARLOS III   (Spain)

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

^w HOSPITAL SEVERO OCHOA   (Spain)

^x KAROLINSKA INSTITUTE   (Sweden)

^y C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q13; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EMBRYO CELL; FEMALE; GENE; GENE MUTATION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LANGUAGE DISABILITY; MALE; MENTAL DETERIORATION; MONOSOMY; NEWBORN; PHELAN MCDERMID SYNDROME; PHENOTYPIC VARIATION; RING CHROMOSOME; SHANK3 GENE; SOCIAL DISABILITY; SOCIAL INTERACTION; ADOLESCENT; AGED; CHILD; CHROMOSOME 22; CHROMOSOME DISORDER; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENETICS; INFANT; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PARENT; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PARENTS; RING CHROMOSOMES; SEQUENCE DELETION; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 79960964869     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002173     Document Type: Article

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