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Items: 1 to 20 of 92

1.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, Tabet AC, Amselem S, Elion J, Gressens P, Pipiras E, Benzacken B.

Eur J Hum Genet. 2012 May;20(5):527-33. doi: 10.1038/ejhg.2011.233. Epub 2012 Jan 11.

2.

Analysis of chromosomal aberrations in patients with mental retardation using the array-CGH technique: a single Czech centre experience.

Zrnová E, Vranová V, Slámová I, Gaillyová R, Kuglík P.

Folia Biol (Praha). 2011;57(5):206-15.

3.

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, Morichon-Delvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2010 Feb;18(2):227-32. doi: 10.1038/ejhg.2009.162. Epub 2009 Oct 21.

4.

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M.

J Med Genet. 2005 Sep;42(9):699-705.

5.
6.

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR.

J Med Genet. 2006 Aug;43(8):625-33. Epub 2006 Feb 20.

7.

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

Balikova I, de Ravel T, Ayuso C, Thienpont B, Casteels I, Villaverde C, Devriendt K, Fryns JP, Vermeesch JR.

Am J Ophthalmol. 2011 Jun;151(6):1087-1094.e45. doi: 10.1016/j.ajo.2010.11.025. Epub 2011 Feb 25.

PMID:
21353197
8.

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J.

Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24.

PMID:
23798500
9.

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. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

10.

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.

Emy Dorfman L, Leite JC, Giugliani R, Riegel M.

J Pediatr (Rio J). 2015 Jan-Feb;91(1):59-67. doi: 10.1016/j.jped.2014.05.007. Epub 2014 Sep 6.

11.
12.

Array-based comparative genome hybridization in clinical genetics.

Bar-Shira A, Rosner G, Rosner S, Goldstein M, Orr-Urtreger A.

Pediatr Res. 2006 Sep;60(3):353-8. Epub 2006 Jul 20.

PMID:
16857771
13.

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.

Yatsenko SA, Shaw CA, Ou Z, Pursley AN, Patel A, Bi W, Cheung SW, Lupski JR, Chinault AC, Beaudet AL.

J Mol Diagn. 2009 May;11(3):226-37. doi: 10.2353/jmoldx.2009.080064. Epub 2009 Mar 26.

14.

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R.

J Med Genet. 2008 Nov;45(11):704-9. doi: 10.1136/jmg.2008.058776. Epub 2008 Aug 19.

PMID:
18713793
15.

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F.

J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15.

PMID:
18413373
16.

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.

Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB.

Mol Cytogenet. 2012 Dec 31;5(1):46. doi: 10.1186/1755-8166-5-46.

17.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.

PMID:
22825934
18.

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies.

Edelmann L, Hirschhorn K.

Ann N Y Acad Sci. 2009 Jan;1151:157-66. doi: 10.1111/j.1749-6632.2008.03610.x. Review.

PMID:
19154522
19.

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.

Thuresson AC, Bondeson ML, Edeby C, Ellis P, Langford C, Dumanski JP, Annerén G.

Cytogenet Genome Res. 2007;118(1):1-7.

20.

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.

Am J Med Genet A. 2011 Dec;155A(12):2925-32. doi: 10.1002/ajmg.a.33858. Epub 2011 Oct 18.

PMID:
22009788

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