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Results: 1 to 20 of 28

1.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.

J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17.

PMID:
22180641
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

L Ng IS, Chin WH, P Lim EC, Tan EC.

Twin Res Hum Genet. 2011 Aug;14(4):333-9. doi: 10.1375/twin.14.4.333. Review.

PMID:
21787116
[PubMed - indexed for MEDLINE]
3.

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.

Roetzer KM, Schwarzbraun T, Obenauf AC, Hauser E, Speicher MR.

Am J Med Genet A. 2010 Dec;152A(12):3173-8. doi: 10.1002/ajmg.a.33750.

PMID:
21108404
[PubMed - indexed for MEDLINE]
4.

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.

El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW.

Genet Med. 2010 Sep;12(9):573-86. doi: 10.1097/GIM.0b013e3181eb9b4a.

PMID:
20860070
[PubMed - indexed for MEDLINE]
5.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.

McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD.

Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.

PMID:
20678247
[PubMed]
Free PMC Article
6.

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M.

Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097.

PMID:
19921647
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P.

Hum Genet. 2009 Oct;126(4):589-602. doi: 10.1007/s00439-009-0706-x. Epub 2009 Jun 26.

PMID:
19557438
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904.

PMID:
19533778
[PubMed - indexed for MEDLINE]
9.

Duplication hotspots, rare genomic disorders, and common disease.

Mefford HC, Eichler EE.

Curr Opin Genet Dev. 2009 Jun;19(3):196-204. doi: 10.1016/j.gde.2009.04.003. Epub 2009 May 22. Review.

PMID:
19477115
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. doi: 10.1016/j.ejmg.2009.02.003. Epub 2009 Feb 21.

PMID:
19233321
[PubMed - indexed for MEDLINE]
11.

A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.

Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A.

J Clin Endocrinol Metab. 2009 Mar;94(3):936-9. doi: 10.1210/jc.2008-1118. Epub 2008 Dec 30.

PMID:
19116240
[PubMed - indexed for MEDLINE]
12.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

Kiholm Lund AB, Hove HD, Kirchhoff M.

Eur J Med Genet. 2008 Nov-Dec;51(6):520-6. doi: 10.1016/j.ejmg.2008.07.008. Epub 2008 Aug 7.

PMID:
18755302
[PubMed - indexed for MEDLINE]
13.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

PMID:
18252227
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL.

J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8.

PMID:
18182448
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.

Eur J Pediatr. 2008 Aug;167(8):903-8. Epub 2007 Oct 12.

PMID:
17932688
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC.

Am J Hum Genet. 2007 Jun;80(6):1179-87. Epub 2007 Apr 11.

PMID:
17503335
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Characterization of a recurrent 15q24 microdeletion syndrome.

Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE.

Hum Mol Genet. 2007 Mar 1;16(5):567-72. Epub 2007 Mar 14.

PMID:
17360722
[PubMed - indexed for MEDLINE]
Free Article
18.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):550-60. Epub 2007 Jan 29.

PMID:
17273977
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.

PMID:
16906162
[PubMed - indexed for MEDLINE]
20.

Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.

al Kandari H, Katsumata N, Alexander S, Rasoul MA.

J Clin Endocrinol Metab. 2006 Aug;91(8):2821-6. Epub 2006 May 16.

PMID:
16705068
[PubMed - indexed for MEDLINE]

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