217 related articles for article (PubMed ID: 25501453)
21. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
[TBL] [Abstract][Full Text] [Related]
22. Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report.
Şahin Y; Kiper PÖ; Alanay Y; Liehr T; Utine GE; Boduroğlu K
Clin Dysmorphol; 2014 Oct; 23(4):147-51. PubMed ID: 25144152
[No Abstract] [Full Text] [Related]
23. [Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations].
Geng Q; Wu W; Luo F; Xu Z; Chen W; Li F; Xie J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):288-92. PubMed ID: 23744316
[TBL] [Abstract][Full Text] [Related]
24. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
Thevenon J; Callier P; Poquet H; Bache I; Menten B; Malan V; Cavaliere ML; Girod JP; Thauvin-Robinet C; El Chehadeh S; Pinoit JM; Huet F; Verges B; Petit JM; Mosca-Boidron AL; Marle N; Mugneret F; Masurel-Paulet A; Novelli A; Tümer Z; Loeys B; Lyonnet S; Faivre L
J Med Genet; 2014 Jan; 51(1):21-7. PubMed ID: 24133203
[TBL] [Abstract][Full Text] [Related]
25. [Unbalanced subtelomic rearrangement involving 9q and 22q in a child with mental retardation and multiple congenital anomalies].
Xiao B; Xing Y; Ji X; Xu Y; Ni L; Zhu Y; Tao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec; 30(6):666-9. PubMed ID: 24327143
[TBL] [Abstract][Full Text] [Related]
26. [Application of BoBs technique for detecting common chromosome microdeletion and microduplication syndromes].
Yang B; Tang X; Su J; Chen H; Zhang J; Yin Y; Feng Y; Zhang Y; Zhu S; Zhang J; Zhu B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):452-7. PubMed ID: 27454996
[TBL] [Abstract][Full Text] [Related]
27. Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.
Jorge R; Silva C; Águeda S; Dória S; Leão M
Am J Med Genet A; 2015 Nov; 167A(11):2839-43. PubMed ID: 26338046
[TBL] [Abstract][Full Text] [Related]
28. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Margari L; Di Cosola ML; Buttiglione M; Pansini A; Buonadonna AL; Craig F; Cariola F; Petruzzelli MG; Gentile M
Am J Med Genet A; 2012 Jul; 158A(7):1713-8. PubMed ID: 22639464
[TBL] [Abstract][Full Text] [Related]
29. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
Piccione M; Piro E; Serraino F; Cavani S; Ciccone R; Malacarne M; Pierluigi M; Vitaloni M; Zuffardi O; Corsello G
Eur J Med Genet; 2012 Apr; 55(4):238-44. PubMed ID: 22406401
[TBL] [Abstract][Full Text] [Related]
30. [One case of 2q37 deletion syndrome: clinical and genetic diagnosis].
Geng Q; Xie JS; Wu WQ; Luo FW; Chen WB
Zhonghua Er Ke Za Zhi; 2013 Dec; 51(12):934-7. PubMed ID: 24495766
[TBL] [Abstract][Full Text] [Related]
31. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
González-González C; García-Hoyos M; Hernaez Calzón R; Arroyo Díaz C; González Fanego C; Lorda Sánchez I; Sánchez-Escribano F
Ophthalmic Genet; 2012 Jun; 33(2):107-10. PubMed ID: 22171663
[TBL] [Abstract][Full Text] [Related]
32. [Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].
Quintela I; Barros-Angueira F; Perez-Gay L; Dacruz D; Castro-Gago M; Carracedo A; Eiris-Punal J
Rev Neurol; 2015 Sep; 61(6):255-60. PubMed ID: 26350776
[TBL] [Abstract][Full Text] [Related]
33. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
[TBL] [Abstract][Full Text] [Related]
34. Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.
Ben-Abdallah-Bouhjar I; Mougou-Zerelli S; Hannachi H; Ben-Khelifa H; Soyah N; Labalme A; Sanlaville D; Elghezal H; Saad A
Gene; 2013 Apr; 519(1):135-41. PubMed ID: 23403231
[TBL] [Abstract][Full Text] [Related]
35. Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
Abu-Amero KK; Kondkar AA; Khan AO
Ophthalmic Genet; 2016; 37(1):98-101. PubMed ID: 24911043
[TBL] [Abstract][Full Text] [Related]
36. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.
López-Expósito I; Ballesta-Martinez MJ; Bafalliu JA; Vera-Carbonell A; Domingo-Jiménez R; López-González V; Fernández A; Guillén-Navarro E
Genomics; 2014 Apr; 103(4):288-91. PubMed ID: 24607569
[TBL] [Abstract][Full Text] [Related]
37. A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.
Tsai LP; Liao HM; Chen YJ; Fang JS; Chen CH
Clin Genet; 2009 May; 75(5):449-56. PubMed ID: 19459884
[TBL] [Abstract][Full Text] [Related]
38. Array CGH defined interstitial deletion on chromosome 14: a new case.
Piccione M; Antona V; Scavone V; Malacarne M; Pierluigi M; Grasso M; Corsello G
Eur J Pediatr; 2010 Jul; 169(7):845-51. PubMed ID: 20087602
[TBL] [Abstract][Full Text] [Related]
39. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
Tsoutsou E; Tzetis M; Giannikou K; Syrmou A; Oikonomakis V; Kosma K; Kanioura A; Kanavakis E; Fryssira H
Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
[TBL] [Abstract][Full Text] [Related]
40. Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation.
Chen CP; Lin SP; Chern SR; Kuo YL; Wu PS; Chen YT; Lee MS; Wang W
Gene; 2014 Feb; 535(1):88-92. PubMed ID: 24279999
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]