218 related articles for article (PubMed ID: 34828266)
1. 17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.
Milone R; Tancredi R; Cosenza A; Ferrari AR; Scalise R; Cioni G; Battini R
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828266
[TBL] [Abstract][Full Text] [Related]
2. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K; McQuillin A; Alesi V; Boudry Labis E; Cutajar P; Dallapiccola B; Dentici ML; Dieux-Coeslier A; Duban-Bedu B; Duelund Hjortshøj T; Goel H; Loddo S; Morrogh D; Mosca-Boidron AL; Novelli A; Olivier-Faivre L; Parker J; Parker MJ; Patch C; Pelling AL; Smol T; Tümer Z; Vanakker O; van Haeringen A; Vanlerberghe C; Strydom A; Skuse D; Bass N
Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):397-405. PubMed ID: 29603867
[TBL] [Abstract][Full Text] [Related]
3. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M; Vestergaard EM; Graakjaer J; Petkov Y; Bache I; Fagerberg C; Kibaek M; Svaneby D; Petersen OB; Brasch-Andersen C; Sunde L
Am J Med Genet A; 2016 Nov; 170(11):2934-2942. PubMed ID: 27409573
[TBL] [Abstract][Full Text] [Related]
4. Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
Kamath A; Linden SC; Evans FM; Hall J; Jose SF; Spillane SA; Hardie ADR; Morgan SM; Pilz DT
Am J Med Genet B Neuropsychiatr Genet; 2018 Jul; 177(5):520-528. PubMed ID: 30134084
[TBL] [Abstract][Full Text] [Related]
5. The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Bartnik M; Wiśniowiecka-Kowalnik B; Nowakowska B; Smyk M; Kędzior M; Sobecka K; Kutkowska-Kaźmierczak A; Klapecki J; Szczałuba K; Castañeda J; Własienko P; Bezniakow N; Obersztyn E; Bocian E
Dev Period Med; 2014; 18(3):307-17. PubMed ID: 25182394
[TBL] [Abstract][Full Text] [Related]
6. Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.
Vianna GS; Medeiros PF; Alves AF; Silva TO; Jehee FS
Genet Mol Res; 2016 Feb; 15(1):. PubMed ID: 26909975
[TBL] [Abstract][Full Text] [Related]
7. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
[TBL] [Abstract][Full Text] [Related]
8. 3q29 duplications: A cohort of 46 patients and a literature review.
Massier M; Doco-Fenzy M; Egloff M; Le Guillou X; Le Guyader G; Redon S; Benech C; Le Millier K; Uguen K; Ropars J; Sacaze E; Audebert-Bellanger S; Apetrei A; Molin A; Gruchy N; Vincent-Devulder A; Spodenkiewicz M; Jacquin C; Loron G; Thibaud M; Delplancq G; Brisset S; Lesieur-Sebellin M; Malan V; Romana S; Rio M; Marlin S; Amiel J; Marquet V; Dauriat B; Moradkhani K; Mercier S; Isidor B; Arpin S; Pujalte M; Jedraszak G; Pebrel-Richard C; Salaun G; Laffargue F; Boudjarane J; Missirian C; Chelloug N; Toutain A; Chiesa J; Keren B; Mignot C; Gouy E; Jaillard S; Landais E; Poirsier C
Am J Med Genet A; 2024 Jul; 194(7):e63531. PubMed ID: 38421086
[TBL] [Abstract][Full Text] [Related]
9. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E; Riberi E; Belligni EF; Biamino E; Spielmann M; Ala U; Calcia A; Bagnasco I; Carli D; Gai G; Giordano M; Guala A; Keller R; Mandrile G; Arduino C; Maffè A; Naretto VG; Sirchia F; Sorasio L; Ungari S; Zonta A; Zacchetti G; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Ferrero M; Brussino A; Savin E; Gandione M; Pelle A; Giachino DF; De Marchi M; Restagno G; Provero P; Cirillo Silengo M; Grosso E; Buxbaum JD; Pasini B; De Rubeis S; Brusco A; Ferrero GB
Clin Genet; 2017 Oct; 92(4):415-422. PubMed ID: 28295210
[TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Lengyel A; Pinti É; Pikó H; Jávorszky E; David D; Tihanyi M; Gönczi É; Kiss E; Tóth Z; Tory K; Fekete G; Haltrich I
Eur J Med Genet; 2020 Oct; 63(10):104027. PubMed ID: 32758661
[TBL] [Abstract][Full Text] [Related]
11. Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.
Caramaschi E; Stanghellini I; Magini P; Giuffrida MG; Scullin S; Giuva T; Bergonzini P; Guerra A; Paolucci P; Percesepe A
Ital J Pediatr; 2014 Apr; 40():39. PubMed ID: 24775911
[TBL] [Abstract][Full Text] [Related]
12. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
[TBL] [Abstract][Full Text] [Related]
13. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
[TBL] [Abstract][Full Text] [Related]
14. Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
Maini I; Ivanovski I; Djuric O; Caraffi SG; Errichiello E; Marinelli M; Franchi F; Bizzarri V; Rosato S; Pollazzon M; Gelmini C; Malacarne M; Fusco C; Gargano G; Bernasconi S; Zuffardi O; Garavelli L
Ital J Pediatr; 2018 Mar; 44(1):34. PubMed ID: 29523172
[TBL] [Abstract][Full Text] [Related]
15. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
[TBL] [Abstract][Full Text] [Related]
16. Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.
Chaves TF; Baretto N; Oliveira LF; Ocampos M; Barbato IT; Anselmi M; De Luca GR; Barbato Filho JH; Pinto LLC; Bernardi P; Maris AF
Sci Rep; 2019 Nov; 9(1):17776. PubMed ID: 31780800
[TBL] [Abstract][Full Text] [Related]
17. Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
Kokkonen H; Siren A; Määttä T; Kamila Kadlubowska M; Acharya A; Nouel-Saied LM; Leal SM; Järvelä I; Schrauwen I
Mol Genet Genomic Med; 2021 Dec; 9(12):e1703. PubMed ID: 33982443
[TBL] [Abstract][Full Text] [Related]
18. Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
Ho KS; Twede H; Vanzo R; Harward E; Hensel CH; Martin MM; Page S; Peiffer A; Mowery-Rushton P; Serrano M; Wassman ER
Biomed Res Int; 2016; 2016():3284534. PubMed ID: 27975050
[TBL] [Abstract][Full Text] [Related]
19. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
[TBL] [Abstract][Full Text] [Related]
20. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S; Maitz S; Crosti F; Sala E; Villa N; Spaccini L; Selicorni A; Rigoldi M; Conconi D; Dalprà L; Roversi G; Bentivegna A
Int J Mol Sci; 2019 Mar; 20(5):. PubMed ID: 30836598
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
