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Items: 1 to 20 of 127

1.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M.

Eur J Hum Genet. 2011 Feb;19(2):152-6. doi: 10.1038/ejhg.2010.168. Epub 2010 Oct 20.

2.

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. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

3.

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. doi: 10.1038/ejhg.2012.144. Epub 2012 Jul 25.

4.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

5.

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Al-Kateb H, Khanna G, Filges I, Hauser N, Grange DK, Shen J, Smyser CD, Kulkarni S, Shinawi M.

Am J Med Genet A. 2014 May;164A(5):1118-26. doi: 10.1002/ajmg.a.36401. Epub 2014 Jan 23.

PMID:
24458548
6.

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

Green Snyder L, D'Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E; Simons VIP consortium.

J Autism Dev Disord. 2016 Aug;46(8):2734-48. doi: 10.1007/s10803-016-2807-4.

PMID:
27207092
7.

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.

Okamoto N, Fujii T, Tanaka J, Saito K, Matsui T, Harada N.

Am J Med Genet A. 2014 Jan;164A(1):213-9. doi: 10.1002/ajmg.a.36217. Epub 2013 Nov 20.

PMID:
24259393
8.

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Brisset S, Capri Y, Briand-Suleau A, Tosca L, Gras D, Fauret-Amsellem AL, Pineau D, Saada J, Ortonne V, Verloes A, Goossens M, Tachdjian G, Métay C.

Eur J Med Genet. 2015 Sep;58(9):497-501. doi: 10.1016/j.ejmg.2015.07.001. Epub 2015 Jul 8.

PMID:
26162704
9.

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT, Robichaux-Viehoever A, Schlaggar BL, Shimony JS, Shinawi M.

Am J Med Genet A. 2014 Aug;164A(8):2003-12. doi: 10.1002/ajmg.a.36605. Epub 2014 May 28.

PMID:
24891046
10.

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK; Simons Variation in Individuals Project Consortium.

Biol Psychiatry. 2015 May 1;77(9):785-93. doi: 10.1016/j.biopsych.2014.04.021. Epub 2014 Jun 16.

11.

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. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

12.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D'Angelo D, Chen Q, Chung WK, Sherr EH; Simons VIP Consortium.

Am J Med Genet A. 2016 Nov;170(11):2943-2955. doi: 10.1002/ajmg.a.37820. Epub 2016 Jul 13.

PMID:
27410714
13.

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY, Yu S.

J Hum Genet. 2011 Jul;56(7):541-4. doi: 10.1038/jhg.2011.42. Epub 2011 May 26.

PMID:
21614007
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; Autism Consortium.

N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

15.

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.

Owen JP, Bukshpun P, Pojman N, Thieu T, Chen Q, Lee J, D'Angelo D, Glenn OA, Hunter JV, Berman JI, Roberts TP, Buckner R, Nagarajan SS, Mukherjee P, Sherr EH.

Radiology. 2018 Jan;286(1):217-226. doi: 10.1148/radiol.2017162934. Epub 2017 Aug 8.

PMID:
28786752
16.

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.

J Dev Behav Pediatr. 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed.

PMID:
20613623
17.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
18.

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.

Gerundino F, Marseglia G, Pescucci C, Pelo E, Benelli M, Giachini C, Federighi B, Antonelli C, Torricelli F.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):649-53.

PMID:
25451714
19.

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. doi: 10.1002/ajmg.a.36909. Epub 2015 Apr 2.

PMID:
25847113
20.

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

Hippolyte L, Maillard AM, Rodriguez-Herreros B, Pain A, Martin-Brevet S, Ferrari C, Conus P, Macé A, Hadjikhani N, Metspalu A, Reigo A, Kolk A, Männik K, Barker M, Isidor B, Le Caignec C, Mignot C, Schneider L, Mottron L, Keren B, David A, Doco-Fenzy M, Gérard M, Bernier R, Goin-Kochel RP, Hanson E, Green Snyder L; 16p11.2 European Consortium, Simons Variation in Individuals Project Consortium, Ramus F, Beckmann JS, Draganski B, Reymond A, Jacquemont S.

Biol Psychiatry. 2016 Jul 15;80(2):129-139. doi: 10.1016/j.biopsych.2015.10.021. Epub 2015 Nov 10.

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