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Results: 1 to 20 of 104

1.

Identification of de novo copy number variants associated with human disorders of sexual development.

Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ.

PLoS One. 2010 Oct 26;5(10):e15392. doi: 10.1371/journal.pone.0015392.

PMID:
21048976
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH.

Hum Mutat. 2006 May;27(5):467-73.

PMID:
16619270
[PubMed - indexed for MEDLINE]
3.

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW.

Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399.

PMID:
18663743
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A.

PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793.

PMID:
21408189
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM.

J Med Genet. 2005 Feb;42(2):121-8.

PMID:
15689449
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M.

PLoS One. 2013 Jul 8;8(7):e68194. doi: 10.1371/journal.pone.0068194. Print 2013.

PMID:
23861871
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, Nöthen MM, Reutter H, Ludwig M.

Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):133-9. doi: 10.1002/bdra.23112. Epub 2013 Jan 29.

PMID:
23359465
[PubMed - indexed for MEDLINE]
8.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
9.

Strong association of de novo copy number mutations with autism.

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M.

Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

PMID:
17363630
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

Honda S, Hayashi S, Imoto I, Toyama J, Okazawa H, Nakagawa E, Goto Y, Inazawa J.

J Hum Genet. 2010 Sep;55(9):590-9. doi: 10.1038/jhg.2010.74. Epub 2010 Jul 8.

PMID:
20613765
[PubMed - indexed for MEDLINE]
12.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6.

PMID:
19505601
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
16141005
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Clinical array-based karyotyping of breast cancer with equivocal HER2 status resolves gene copy number and reveals chromosome 17 complexity.

Gunn S, Yeh IT, Lytvak I, Tirtorahardjo B, Dzidic N, Zadeh S, Kim J, McCaskill C, Lim L, Gorre M, Mohammed M.

BMC Cancer. 2010 Jul 28;10:396. doi: 10.1186/1471-2407-10-396.

PMID:
20667129
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L.

Eur J Hum Genet. 2010 Jul;18(7):768-75. doi: 10.1038/ejhg.2010.1. Epub 2010 Feb 3.

PMID:
20125191
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Array comparative genomic hybridization in prenatal diagnosis: another experience.

Vialard F, Molina Gomes D, Leroy B, Quarello E, Escalona A, Le Sciellour C, Serazin V, Roume J, Ville Y, de Mazancourt P, Selva J.

Fetal Diagn Ther. 2009;25(2):277-84. doi: 10.1159/000224112. Epub 2009 Jun 11.

PMID:
19521095
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Is routine karyotyping necessary in the evaluation of hypospadias and cryptorchidism?

McAleer IM, Kaplan GW.

J Urol. 2001 Jun;165(6 Pt 1):2029-31; discussion 2031-2.

PMID:
11371923
[PubMed - indexed for MEDLINE]
19.

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr.

Biol Psychiatry. 2008 Jun 15;63(12):1111-7. doi: 10.1016/j.biopsych.2008.01.009. Epub 2008 Mar 28.

PMID:
18374305
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.

Tannour-Louet M, Han S, Louet JF, Zhang B, Romero K, Addai J, Sahin A, Cheung SW, Lamb DJ.

Nat Med. 2014 Jul;20(7):715-24. doi: 10.1038/nm.3580. Epub 2014 Jun 1.

PMID:
24880616
[PubMed - in process]

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