Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 134

1.

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
2.

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.

3.

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.

4.

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.

5.

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.

6.

Clinical and molecular characterization of a patient with 15q21.2q22.2 deletion syndrome.

Velázquez-Wong AC, Ruiz Esparza-Garrido R, Velázquez-Flores MÁ, Huicochea-Montiel JC, Cárdenas-Conejo A, Miguez-Muñoz CP, Araujo-Solís MA, Salamanca-Gómez F, Arenas-Aranda DJ.

Cytogenet Genome Res. 2014;144(3):183-9. doi: 10.1159/000370081. Epub 2015 Feb 6.

PMID:
25661042
7.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
8.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C.

Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3.

PMID:
22198201
9.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

10.

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. doi: 10.1016/j.ejmg.2012.01.014. Epub 2012 Feb 18.

PMID:
22406401
11.

Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.

Dhamija R, Breningstall G, Wong-Kisiel L, Dolan M, Hirsch B, Wirrell E.

Pediatr Neurol. 2011 Jul;45(1):60-2. doi: 10.1016/j.pediatrneurol.2011.02.002.

PMID:
21723464
12.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.

Am J Med Genet A. 2012 Feb;158A(2):412-6. doi: 10.1002/ajmg.a.34395. Epub 2011 Dec 2.

PMID:
22140075
13.

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

Brunetti-Pierri N, Sahoo T, Frioux S, Chinault C, Zascavage R, Cheung SW, Peters S, Shinawi M.

Am J Med Genet A. 2008 Aug 1;146A(15):1933-41. doi: 10.1002/ajmg.a.32324.

PMID:
18561338
14.

[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. doi: 10.3343/kjlm.2010.30.1.70. Korean.

15.

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
16.

Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.

Veredice C, Bianco F, Contaldo I, Orteschi D, Stefanini MC, Battaglia D, Lettori D, Guzzetta F, Zollino M.

Epilepsia. 2009 Jul;50(7):1810-5. doi: 10.1111/j.1528-1167.2009.02078.x. Epub 2009 Apr 19.

17.

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A.

Am J Med Genet A. 2007 Jan 15;143A(2):172-8.

PMID:
17163532
18.

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J.

Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11.

PMID:
21990074
19.

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

Spruijt L, Engelen JJ, Bruinen-Smeijsters IP, Albrechts JC, Schrander J, Schrander-Stumpel CT.

Am J Med Genet A. 2004 Sep 1;129A(3):312-5.

PMID:
15326635
20.

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.

Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.

PMID:
19576304

Supplemental Content

Support Center