131 related articles for article (PubMed ID: 34879425)
21. Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization.
Chen CP; Su YN; Chen CY; Su JW; Chern SR; Town DD; Wang W
Taiwan J Obstet Gynecol; 2012 Sep; 51(3):435-9. PubMed ID: 23040932
[TBL] [Abstract][Full Text] [Related]
22. [Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype].
Pachajoa H
Arch Argent Pediatr; 2016 Dec; 114(6):e448-e449. PubMed ID: 27869431
[TBL] [Abstract][Full Text] [Related]
23. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Labonne JD; Vogt J; Reali L; Kong IK; Layman LC; Kim HG
Am J Med Genet A; 2015 Dec; 167A(12):3011-8. PubMed ID: 26333423
[TBL] [Abstract][Full Text] [Related]
24. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Blanco-Kelly F; Palomares M; Vallespín E; Villaverde C; Martín-Arenas R; Vélez-Monsalve C; Lorda-Sánchez I; Nevado J; Trujillo-Tiebas MJ; Lapunzina P; Ayuso C; Corton M
PLoS One; 2017; 12(2):e0172363. PubMed ID: 28231309
[TBL] [Abstract][Full Text] [Related]
25. Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.
Shuib S; Saaid NN; Zakaria Z; Ismail J; Abdul Latiff Z
Malays J Pathol; 2017 Apr; 39(1):77-81. PubMed ID: 28413209
[TBL] [Abstract][Full Text] [Related]
26. Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization.
Chen CP; Ko TM; Wang LK; Chern SR; Wu PS; Chen SW; Wu FT; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2019 Sep; 58(5):698-703. PubMed ID: 31542096
[TBL] [Abstract][Full Text] [Related]
27. Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.
Chen CP; Ko TM; Su YN; Wang LK; Chern SR; Wu PS; Chen YN; Chen SW; Ko K; Lee CC; Chen LF; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2016 Oct; 55(5):733-737. PubMed ID: 27751426
[TBL] [Abstract][Full Text] [Related]
28. Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
Han JC; Liu QR; Jones M; Levinn RL; Menzie CM; Jefferson-George KS; Adler-Wailes DC; Sanford EL; Lacbawan FL; Uhl GR; Rennert OM; Yanovski JA
N Engl J Med; 2008 Aug; 359(9):918-27. PubMed ID: 18753648
[TBL] [Abstract][Full Text] [Related]
29. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Xu S; Han JC; Morales A; Menzie CM; Williams K; Fan YS
Cytogenet Genome Res; 2008; 122(2):181-7. PubMed ID: 19096215
[TBL] [Abstract][Full Text] [Related]
30. WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).
McGaughran JM; Ward HB; Evans DG
J Med Genet; 1995 Oct; 32(10):823-4. PubMed ID: 8558565
[TBL] [Abstract][Full Text] [Related]
31. Complete sex reversal in a WAGR syndrome patient.
Le Caignec C; Delnatte C; Vermeesch JR; Boceno M; Joubert M; Lavenant F; David A; Rival JM
Am J Med Genet A; 2007 Nov; 143A(22):2692-5. PubMed ID: 17935232
[TBL] [Abstract][Full Text] [Related]
32. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
[TBL] [Abstract][Full Text] [Related]
33. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
Upadia J; Gonzales PR; Atkinson TP; Schroeder HW; Robin NH; Rudy NL; Mikhail FM
Am J Med Genet A; 2018 Dec; 176(12):2791-2797. PubMed ID: 30216695
[TBL] [Abstract][Full Text] [Related]
34. Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1.
Chen CP; Hsieh CH; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):847-851. PubMed ID: 29241933
[TBL] [Abstract][Full Text] [Related]
35. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
Chen CP; Wang LK; Chern SR; Wu PS; Chen SW; Wu FT; Chen YY; Pan CW; Wang W
Taiwan J Obstet Gynecol; 2020 May; 59(3):432-436. PubMed ID: 32416893
[TBL] [Abstract][Full Text] [Related]
36. Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies.
Lee MJ; Park SH; Shim SH; Moon MJ; Cha DH
Taiwan J Obstet Gynecol; 2019 May; 58(3):318-323. PubMed ID: 31122516
[TBL] [Abstract][Full Text] [Related]
37. Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
Prasun P; Hankerd M; Kristofice M; Scussel L; Sivaswamy L; Ebrahim S
Am J Med Genet A; 2014 Jul; 164A(7):1815-20. PubMed ID: 24700535
[TBL] [Abstract][Full Text] [Related]
38. Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.
Palka C; Alfonsi M; Mohn A; Guanciali Franchi P; Chiarelli F; Calabrese G
Mol Syndromol; 2012 Apr; 2(6):259-261. PubMed ID: 22822387
[TBL] [Abstract][Full Text] [Related]
39. Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects.
Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Wu FT; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2019 Sep; 58(5):704-708. PubMed ID: 31542097
[TBL] [Abstract][Full Text] [Related]
40. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC; Thurm A; Golden Williams C; Joseph LA; Zein WM; Brooks BP; Butman JA; Brady SM; Fuhr SR; Hicks MD; Huey AE; Hanish AE; Danley KM; Raygada MJ; Rennert OM; Martinowich K; Sharp SJ; Tsao JW; Swedo SE
Cortex; 2013; 49(10):2700-10. PubMed ID: 23517654
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]