319 related articles for article (PubMed ID: 19306953)
1. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
Bijlsma EK; Gijsbers AC; Schuurs-Hoeijmakers JH; van Haeringen A; Fransen van de Putte DE; Anderlid BM; Lundin J; Lapunzina P; Pérez Jurado LA; Delle Chiaie B; Loeys B; Menten B; Oostra A; Verhelst H; Amor DJ; Bruno DL; van Essen AJ; Hordijk R; Sikkema-Raddatz B; Verbruggen KT; Jongmans MC; Pfundt R; Reeser HM; Breuning MH; Ruivenkamp CA
Eur J Med Genet; 2009; 52(2-3):77-87. PubMed ID: 19306953
[TBL] [Abstract][Full Text] [Related]
2. [16p11.2 Microdeletion: first report in Argentina].
Tardivo A; Masotto B; Espeche L; Solari AP; Nevado J; Rozental S
Arch Argent Pediatr; 2017 Dec; 115(6):e449-e453. PubMed ID: 29087133
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.
Ciuladaitė Z; Kasnauskienė J; Cimbalistienė L; Preikšaitienė E; Patsalis PC; Kučinskas V
J Appl Genet; 2011 Nov; 52(4):443-9. PubMed ID: 21931978
[No Abstract] [Full Text] [Related]
5. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Tabet AC; Pilorge M; Delorme R; Amsellem F; Pinard JM; Leboyer M; Verloes A; Benzacken B; Betancur C
Eur J Hum Genet; 2012 May; 20(5):540-6. PubMed ID: 22234155
[TBL] [Abstract][Full Text] [Related]
6. 16p11.2 microdeletion syndrome: a case report.
Dell'Edera D; Dilucca C; Allegretti A; Simone F; Lupo MG; Liccese C; Davanzo R
J Med Case Rep; 2018 Apr; 12(1):90. PubMed ID: 29609622
[TBL] [Abstract][Full Text] [Related]
7. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Miller DT; Shen Y; Weiss LA; Korn J; Anselm I; Bridgemohan C; Cox GF; Dickinson H; Gentile J; Harris DJ; Hegde V; Hundley R; Khwaja O; Kothare S; Luedke C; Nasir R; Poduri A; Prasad K; Raffalli P; Reinhard A; Smith SE; Sobeih MM; Soul JS; Stoler J; Takeoka M; Tan WH; Thakuria J; Wolff R; Yusupov R; Gusella JF; Daly MJ; Wu BL
J Med Genet; 2009 Apr; 46(4):242-8. PubMed ID: 18805830
[TBL] [Abstract][Full Text] [Related]
8. [Genomic abnormalities in children with mental retardation and autism: the use of comparative genomic hybridization in situ (HRCGH) and molecular karyotyping with DNA-microchips (array CGH)].
Vorsanova SG; Iurov IIu; Kurinnaia OS; Voinova VIu; Iurov IuB
Zh Nevrol Psikhiatr Im S S Korsakova; 2013; 113(8):46-9. PubMed ID: 24077551
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Recurrent 16p11.2 microdeletions in autism.
Kumar RA; KaraMohamed S; Sudi J; Conrad DF; Brune C; Badner JA; Gilliam TC; Nowak NJ; Cook EH; Dobyns WB; Christian SL
Hum Mol Genet; 2008 Feb; 17(4):628-38. PubMed ID: 18156158
[TBL] [Abstract][Full Text] [Related]
11. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R
Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581
[TBL] [Abstract][Full Text] [Related]
12. Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.
Fetit R; Price DJ; Lawrie SM; Johnstone M
Psychiatr Genet; 2020 Oct; 30(5):136-140. PubMed ID: 32732550
[TBL] [Abstract][Full Text] [Related]
13. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
[TBL] [Abstract][Full Text] [Related]
14. Association between microdeletion and microduplication at 16p11.2 and autism.
Weiss LA; Shen Y; Korn JM; Arking DE; Miller DT; Fossdal R; Saemundsen E; Stefansson H; Ferreira MA; Green T; Platt OS; Ruderfer DM; Walsh CA; Altshuler D; Chakravarti A; Tanzi RE; Stefansson K; Santangelo SL; Gusella JF; Sklar P; Wu BL; Daly MJ;
N Engl J Med; 2008 Feb; 358(7):667-75. PubMed ID: 18184952
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.
Hinkley LBN; Dale CL; Luks TL; Findlay AM; Bukshpun P; Pojman N; Thieu T; Chung WK; Berman J; Roberts TPL; Mukherjee P; Sherr EH; Nagarajan SS
J Neurosci; 2019 Sep; 39(37):7321-7331. PubMed ID: 31270155
[TBL] [Abstract][Full Text] [Related]
18. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio MN; Arbogast T; Jønch AE; Collins SC; Popadin K; Bonnet CS; Giannuzzi G; Maillard AM; Jacquemont S; ; Yalcin B; Katsanis N; Golzio C; Reymond A
Am J Hum Genet; 2017 Oct; 101(4):564-577. PubMed ID: 28965845
[TBL] [Abstract][Full Text] [Related]
19. Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.
Mei C; Fedorenko E; Amor DJ; Boys A; Hoeflin C; Carew P; Burgess T; Fisher SE; Morgan AT
Eur J Hum Genet; 2018 May; 26(5):676-686. PubMed ID: 29445122
[TBL] [Abstract][Full Text] [Related]
20. 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Barber JC; Hall V; Maloney VK; Huang S; Roberts AM; Brady AF; Foulds N; Bewes B; Volleth M; Liehr T; Mehnert K; Bateman M; White H
Eur J Hum Genet; 2013 Feb; 21(2):182-9. PubMed ID: 22828807
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
