These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
234 related articles for article (PubMed ID: 32604767)
1. A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features. Palumbo O; Palumbo P; Di Muro E; Cinque L; Petracca A; Carella M; Castori M Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32604767 [TBL] [Abstract][Full Text] [Related]
2. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132 [TBL] [Abstract][Full Text] [Related]
3. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia. Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028 [TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome. Palumbo P; Accadia M; Leone MP; Palladino T; Stallone R; Carella M; Palumbo O Am J Med Genet A; 2018 Feb; 176(2):391-398. PubMed ID: 29193617 [TBL] [Abstract][Full Text] [Related]
5. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Willemsen MH; Fernandez BA; Bacino CA; Gerkes E; de Brouwer AP; Pfundt R; Sikkema-Raddatz B; Scherer SW; Marshall CR; Potocki L; van Bokhoven H; Kleefstra T Eur J Hum Genet; 2010 Apr; 18(4):429-35. PubMed ID: 19920853 [TBL] [Abstract][Full Text] [Related]
6. TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. Palumbo O; Fichera M; Palumbo P; Rizzo R; Mazzolla E; Cocuzza DM; Carella M; Mattina T Am J Med Genet A; 2014 Mar; 164A(3):828-33. PubMed ID: 24458984 [TBL] [Abstract][Full Text] [Related]
7. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. Orellana C; Roselló M; Monfort S; Mayo S; Oltra S; Martínez F Am J Med Genet A; 2015 Jul; 167(7):1614-20. PubMed ID: 25858326 [TBL] [Abstract][Full Text] [Related]
8. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. Izumi K; Hahn A; Christ L; Curtis C; Neilson DE Am J Med Genet A; 2011 Jun; 155A(6):1384-9. PubMed ID: 21567912 [TBL] [Abstract][Full Text] [Related]
9. 7p22.1 microduplication syndrome: Refinement of the critical region. Ronzoni L; Grassi FS; Pezzani L; Tucci A; Baccarin M; Esposito S; Milani D Eur J Med Genet; 2017 Feb; 60(2):114-117. PubMed ID: 27866048 [TBL] [Abstract][Full Text] [Related]
10. 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature. Caselli R; Ballarati L; Vignoli A; Peron A; Recalcati MP; Catusi I; Larizza L; Giardino D Eur J Med Genet; 2015 Nov; 58(11):578-83. PubMed ID: 26297194 [TBL] [Abstract][Full Text] [Related]
11. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. Khalifa M; Stein J; Grau L; Nelson V; Meck J; Aradhya S; Duby J Am J Med Genet A; 2013 Apr; 161A(4):835-40. PubMed ID: 23494856 [TBL] [Abstract][Full Text] [Related]
12. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features. Quintela I; Barros F; Lago-Leston R; Castro-Gago M; Carracedo A; Eiris J Am J Med Genet A; 2015 Jun; 167(6):1315-22. PubMed ID: 25847113 [TBL] [Abstract][Full Text] [Related]
13. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. Riehmer V; Erger F; Herkenrath P; Seland S; Jackels M; Wiater A; Heller R; Beck BB; Netzer C Am J Med Genet A; 2017 Aug; 173(8):2132-2138. PubMed ID: 28574232 [TBL] [Abstract][Full Text] [Related]
14. Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication. Lee CG; Cho E; Ahn YM Eur J Med Genet; 2016 Apr; 59(4):210-4. PubMed ID: 26873618 [TBL] [Abstract][Full Text] [Related]
15. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898 [TBL] [Abstract][Full Text] [Related]
16. Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy. Mohan S; Nampoothiri S; Yesodharan D; Venkatesan V; Koshy T; Paul SF; Perumal V Lab Med; 2016 May; 47(2):171-5. PubMed ID: 27069036 [TBL] [Abstract][Full Text] [Related]
17. A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders. Miolo G; Giuffrida MG; Corona G; Capalbo A; Pivetta B; Tessitori G; Bernardini L Eur J Med Genet; 2019 Sep; 62(9):103558. PubMed ID: 31405577 [TBL] [Abstract][Full Text] [Related]
18. Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. Fernández-Jaén A; Castellanos Mdel C; Fernández-Perrone AL; Fernández-Mayoralas DM; de la Vega AG; Calleja-Pérez B; Fernández EC; Albert J; Hombre MC Am J Med Genet A; 2014 Aug; 164A(8):2043-7. PubMed ID: 24838842 [TBL] [Abstract][Full Text] [Related]
19. A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. Lim JH; Seo EJ; Kim YM; Cho HJ; Lee JO; Cheon CK; Yoo HW Ann Lab Med; 2014 Sep; 34(5):390-4. PubMed ID: 25187894 [TBL] [Abstract][Full Text] [Related]
20. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the Kutkowska-Kaźmierczak A; Boczar M; Kalka E; Castañeda J; Klapecki J; Pietrzyk A; Barczyk A; Malinowska O; Landowska A; Gambin T; Kowalczyk K; Wiśniowiecka-Kowalnik B; Smyk M; Dawidziuk M; Niepokój K; Paczkowska M; Szyld P; Lipska-Ziętkiewicz B; Szczałuba K; Kostyk E; Runge A; Rutkowska K; Płoski R; Nowakowska B; Bal J; Obersztyn E; Gos M Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440431 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]