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11p Microdeletion including WT1 but not PAX6 , presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Almind, Gitte J ; Brøndum-Nielsen, Karen ; Bangsgaard, Regitze ; Baekgaard, Peter ; Grønskov, Karen

Molecular Cytogenetics, 2009, Vol.2, p.6-6 [Peer Reviewed Journal]

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12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments

Leyser, Marcio ; Dias, Bruno Leonardo ; Coelho, Ana Luiza ; Vasconcelos, Marcio ; Nascimento, Osvaldo J. M

Molecular Cytogenetics, 2016, Vol.9 [Peer Reviewed Journal]

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

Bestetti, Ilaria ; Sironi, Alessandra ; Catusi, Ilaria ; Mariani, Milena ; Giardino, Daniela ; Manoukian, Siranoush ; Milani, Donatella ; Larizza, Lidia ; Castronovo, Chiara ; Finelli, Palma

Molecular Cytogenetics, 2018, Vol.11 [Peer Reviewed Journal]

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14q32.3-qter trisomic segment: a case report and literature review

Villa, Nicoletta ; Scatigno, Agnese ; Redaelli, Serena ; Conconi, Donatella ; Cianci, Paola ; Farina, Clotilde ; Fossati, Chiara ; Dalprà, Leda ; Maitz, Silvia ; Selicorni, Angelo

Molecular Cytogenetics, 2016, Vol.9 [Peer Reviewed Journal]

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18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature

Wang, Chunjing ; Ren, Huanhuan ; Dong, Huaifu ; Liang, Meng ; Wu, Qi ; Liao, Yaping

Molecular Cytogenetics, 2018, Vol.11 [Peer Reviewed Journal]

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6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Desch, Laurent ; Marle, Nathalie ; Mosca-Boidron, Anne-Laure ; Faivre, Laurence ; Eliade, Marie ; Payet, Muriel ; Ragon, Clemence ; Thevenon, Julien ; Aral, Bernard ; Ragot, Sylviane ; Ardalan, Azarnouche ; Dhouibi, Nabila ; Bensignor, Candace ; Thauvin-Robinet, Christel ; El Chehadeh, Salima ; Callier, Patrick

Molecular Cytogenetics, 2015, Vol.8 [Peer Reviewed Journal]

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7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

Yokoyama, Emiy ; Smith-Pellegrin, Dennise Lesley ; Sánchez, Silvia ; Molina, Bertha ; Rodríguez, Alfredo ; Juárez, Rocío ; Lieberman, Esther ; Avila, Silvia ; Castrillo, José Luis ; Del Castillo, Victoria ; Frías, Sara

Molecular Cytogenetics, 2017, Vol.10 [Peer Reviewed Journal]

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A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

Giordano, Mara ; Muratore, Valentina ; Babu, Deepak ; Meazza, Cristina ; Bozzola, Mauro

Molecular Cytogenetics, 2016, Vol.9 [Peer Reviewed Journal]

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A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Lall, Meena ; Thakur, Seema ; Puri, Ratna ; Verma, Ishwar ; Mukerji, Mithali ; Jha, Pankaj

Molecular Cytogenetics, 2011, Vol.4, p.19-19 [Peer Reviewed Journal]

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

Tesner, Pavel ; Drabova, Jana ; Stolfa, Miroslav ; Kudr, Martin ; Kyncl, Martin ; Moslerova, Veronika ; Novotna, Drahuse ; Kremlikova Pourova, Radka ; Kocarek, Eduard ; Rasplickova, Tereza ; Sedlacek, Zdenek ; Vlckova, Marketa

Molecular Cytogenetics, 2018, Vol.11 [Peer Reviewed Journal]

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