345 related articles for article (PubMed ID: 20808231)
21. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P; Kulkarni S; Dharmadhikari AV; Sampath S; Bhatt SS; Shaikh TH; Xia Z; Pursley AN; Cooper ML; Shinawi M; Paciorkowski AR; Grange DK; Noetzel MJ; Saunders S; Simons P; Summar M; Lee B; Scaglia F; Fellmann F; Martinet D; Beckmann JS; Asamoah A; Platky K; Sparks S; Martin AS; Madan-Khetarpal S; Hoover J; Medne L; Bonnemann CG; Moeschler JB; Vallee SE; Parikh S; Irwin P; Dalzell VP; Smith WE; Banks VC; Flannery DB; Lovell CM; Bellus GA; Golden-Grant K; Gorski JL; Kussmann JL; McGregor TL; Hamid R; Pfotenhauer J; Ballif BC; Shaw CA; Kang SH; Bacino CA; Patel A; Rosenfeld JA; Cheung SW; Shaffer LG
Hum Mutat; 2012 Jan; 33(1):165-79. PubMed ID: 21948486
[TBL] [Abstract][Full Text] [Related]
22. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
[TBL] [Abstract][Full Text] [Related]
23. Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Nagamani SC; Erez A; Bader P; Lalani SR; Scott DA; Scaglia F; Plon SE; Tsai CH; Reimschisel T; Roeder E; Malphrus AD; Eng PA; Hixson PM; Kang SH; Stankiewicz P; Patel A; Cheung SW
Eur J Hum Genet; 2011 Mar; 19(3):280-6. PubMed ID: 21150890
[TBL] [Abstract][Full Text] [Related]
24. 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. PubMed ID: 26162704
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Lee JS; Hwang H; Kim SY; Kim KJ; Choi JS; Woo MJ; Choi YM; Jun JK; Lim BC; Chae JH
Ann Lab Med; 2018 Sep; 38(5):473-480. PubMed ID: 29797819
[TBL] [Abstract][Full Text] [Related]
27. 16p11.2 Locus modulates response to satiety before the onset of obesity.
Maillard AM; Hippolyte L; Rodriguez-Herreros B; Chawner SJ; Dremmel D; Agüera Z; Fagundo AB; Pain A; Martin-Brevet S; Hilbert A; Kurz S; Etienne R; Draganski B; Jimenez-Murcia S; Männik K; Metspalu A; Reigo A; Isidor B; Le Caignec C; David A; Mignot C; Keren B; ; van den Bree MB; Munsch S; Fernandez-Aranda F; Beckmann JS; Reymond A; Jacquemont S
Int J Obes (Lond); 2016 May; 40(5):870-6. PubMed ID: 26620891
[TBL] [Abstract][Full Text] [Related]
28. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.
Nelson M; Quinonez S; Ackley T; Iyer RK; Innis JW
Am J Med Genet A; 2011 Mar; 155A(3):612-7. PubMed ID: 21344629
[TBL] [Abstract][Full Text] [Related]
29. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F; Potocki L; Sampson JB; Liu P; Sanchez-Valle A; Robbins-Furman P; Navarro AD; Wheeler PG; Spence JE; Brasington CK; Withers MA; Lupski JR
Am J Hum Genet; 2010 Mar; 86(3):462-70. PubMed ID: 20188345
[TBL] [Abstract][Full Text] [Related]
30. The phenotype of recurrent 10q22q23 deletions and duplications.
van Bon BW; Balciuniene J; Fruhman G; Nagamani SC; Broome DL; Cameron E; Martinet D; Roulet E; Jacquemont S; Beckmann JS; Irons M; Potocki L; Lee B; Cheung SW; Patel A; Bellini M; Selicorni A; Ciccone R; Silengo M; Vetro A; Knoers NV; de Leeuw N; Pfundt R; Wolf B; Jira P; Aradhya S; Stankiewicz P; Brunner HG; Zuffardi O; Selleck SB; Lupski JR; de Vries BB
Eur J Hum Genet; 2011 Apr; 19(4):400-8. PubMed ID: 21248748
[TBL] [Abstract][Full Text] [Related]
31. Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
Jang W; Kim Y; Han E; Park J; Chae H; Kwon A; Choi H; Kim J; Son JO; Lee SJ; Hong BY; Jang DH; Han JY; Lee JH; Kim SY; Lee IG; Sung IK; Moon Y; Kim M; Park JH
Ann Lab Med; 2019 May; 39(3):299-310. PubMed ID: 30623622
[TBL] [Abstract][Full Text] [Related]
32. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
[TBL] [Abstract][Full Text] [Related]
33. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
Hyder Z; Fairclough A; Douzgou S
Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
[TBL] [Abstract][Full Text] [Related]
34. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
Sampson MG; Coughlin CR; Kaplan P; Conlin LK; Meyers KE; Zackai EH; Spinner NB; Copelovitch L
Am J Med Genet A; 2010 Oct; 152A(10):2618-22. PubMed ID: 20799338
[TBL] [Abstract][Full Text] [Related]
35. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
J Clin Endocrinol Metab; 2017 Aug; 102(8):3029-3039. PubMed ID: 28605459
[TBL] [Abstract][Full Text] [Related]
36. Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.
Han JY; Cho YG; Jo DS; Park J
Int J Mol Sci; 2023 Dec; 25(1):. PubMed ID: 38203422
[TBL] [Abstract][Full Text] [Related]
37. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
[TBL] [Abstract][Full Text] [Related]
38. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
Stevens SJ; Blom EW; Siegelaer IT; Smeets EE
Eur J Hum Genet; 2015 Apr; 23(4):543-6. PubMed ID: 24986827
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
