154 related articles for article (PubMed ID: 17949295)
1. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
van Hagen JM; Eussen HJ; van Schooten R; van Der Geest JN; Lagers-van Haselen GC; Wouters CH; De Zeeuw CI; Gille JJ
Genet Test; 2007; 11(3):321-7. PubMed ID: 17949295
[TBL] [Abstract][Full Text] [Related]
2. [Detection of a Williams Beuren syndrome case by MLPA].
Laurito S; Branham T; Herrero G; Marsa S; Garro F; Roqué M
Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
[TBL] [Abstract][Full Text] [Related]
3. Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.
Cho EH; Park BY; Cho JH; Kang YS
Korean J Lab Med; 2009 Feb; 29(1):71-6. PubMed ID: 19262082
[TBL] [Abstract][Full Text] [Related]
4. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
Fernández L; Lapunzina P; Arjona D; López Pajares I; García-Guereta L; Elorza D; Burgueros M; De Torres ML; Mori MA; Palomares M; García-Alix A; Delicado A
Clin Genet; 2005 Oct; 68(4):373-8. PubMed ID: 16143025
[TBL] [Abstract][Full Text] [Related]
5. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening.
Kontos H; Manolakos E; Malligiannis P; Plachouras N; Ploumis N; Mihalatos M; Orru S; Anastasiadou E; Petersen MB
Prenat Diagn; 2008 Jun; 28(6):556-8. PubMed ID: 18509863
[No Abstract] [Full Text] [Related]
6. [Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
Peng YY; Meng Y; Qiu ZQ; Wang O; Huang SZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):369-73. PubMed ID: 20017297
[TBL] [Abstract][Full Text] [Related]
7. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
[TBL] [Abstract][Full Text] [Related]
8. [Genotype and phenotype analysis of two patients with Williams syndrome].
Zhu H; Ji C; Zhang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):68-70. PubMed ID: 26829738
[TBL] [Abstract][Full Text] [Related]
9. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
Wu YQ; Sutton VR; Nickerson E; Lupski JR; Potocki L; Korenberg JR; Greenberg F; Tassabehji M; Shaffer LG
Am J Med Genet; 1998 Jun; 78(1):82-9. PubMed ID: 9637430
[TBL] [Abstract][Full Text] [Related]
10. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
Honjo RS; Dutra RL; Furusawa EA; Zanardo EA; Costa LS; Kulikowski LD; Bertola DR; Kim CA
Biomed Res Int; 2015; 2015():903175. PubMed ID: 26090456
[TBL] [Abstract][Full Text] [Related]
11. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
Ramírez-Velazco A; Aguayo-Orozco TA; Figuera L; Rivera H; Jave-Suárez L; Aguilar-Lemarroy A; Torres-Reyes LA; Córdova-Fletes C; Barros-Núñez P; Delgadillo-Pérez S; Dávalos-Rodríguez IP; García-Ortiz JE; Domínguez MG
J Genet; 2019 Jun; 98(2):. PubMed ID: 31204697
[TBL] [Abstract][Full Text] [Related]
12. Multiplex ligation-dependent probe amplification for detection of genomic alterations in chronic lymphocytic leukaemia.
Coll-Mulet L; Santidrián AF; Cosialls AM; Iglesias-Serret D; de Frias M; Grau J; Menoyo A; González-Barca E; Pons G; Domingo A; Gil J
Br J Haematol; 2008 Sep; 142(5):793-801. PubMed ID: 18564355
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia.
Schwab CJ; Jones LR; Morrison H; Ryan SL; Yigittop H; Schouten JP; Harrison CJ
Genes Chromosomes Cancer; 2010 Dec; 49(12):1104-13. PubMed ID: 20815030
[TBL] [Abstract][Full Text] [Related]
14. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
Sharma P; Gupta N; Chowdhury MR; Phadke SR; Sapra S; Halder A; Ghosh M; Kabra M
Cytogenet Genome Res; 2015; 146(3):187-94. PubMed ID: 26352091
[TBL] [Abstract][Full Text] [Related]
15. Molecular cytogenetic diagnosis of Williams syndrome.
Hirota H; Matsuoka R; Kimura M; Imamura S; Joh-o K; Ando M; Takao A; Momma K
Am J Med Genet; 1996 Aug; 64(3):473-7. PubMed ID: 8862624
[TBL] [Abstract][Full Text] [Related]
16. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.
Slater H; Bruno D; Ren H; La P; Burgess T; Hills L; Nouri S; Schouten J; Choo KH
Hum Mutat; 2004 Aug; 24(2):164-71. PubMed ID: 15241798
[TBL] [Abstract][Full Text] [Related]
17. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne LR; Digilio MC; Giannotti A; Dallapiccola B
J Med Genet; 1999 Jun; 36(6):478-80. PubMed ID: 10874638
[TBL] [Abstract][Full Text] [Related]
18. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
Lowery MC; Morris CA; Ewart A; Brothman LJ; Zhu XL; Leonard CO; Carey JC; Keating M; Brothman AR
Am J Hum Genet; 1995 Jul; 57(1):49-53. PubMed ID: 7611295
[TBL] [Abstract][Full Text] [Related]
19. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA; Mervis CB; Hobart HH; Gregg RG; Bertrand J; Ensing GJ; Sommer A; Moore CA; Hopkin RJ; Spallone PA; Keating MT; Osborne L; Kimberley KW; Stock AD
Am J Med Genet A; 2003 Nov; 123A(1):45-59. PubMed ID: 14556246
[TBL] [Abstract][Full Text] [Related]
20. Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.
DeSilva U; Massa H; Trask BJ; Green ED
Genome Res; 1999 May; 9(5):428-36. PubMed ID: 10330122
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
