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Items: 1 to 20 of 28

1.

Narrowing the deleted region associated with the 15q21 syndrome.

Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O.

Eur J Med Genet. 2005 Jul-Sep;48(3):346-52.

PMID:
16179230
2.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
3.

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q.

Tonk V, Wyandt HE, Osella P, Skare J, Wu BL, Haddad B, Milunsky A.

Clin Genet. 1995 Sep;48(3):151-5. Review.

PMID:
8556823
4.

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
5.

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.

Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS.

Clin Dysmorphol. 2007 Jul;16(3):135-40. Review.

PMID:
17551325
6.

A report of three patients with an interstitial deletion of chromosome 15q24.

Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson CE, Punnett HH, Thurston VC, Sweeney D, Vance GH.

Am J Med Genet A. 2005 Aug 15;137(1):65-71. Review.

PMID:
16007617
7.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
8.

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. doi: 10.1016/j.ejmg.2010.10.003. Epub 2010 Oct 20. Review.

PMID:
20969981
9.

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M.

Am J Med Genet A. 2005 Oct 1;138A(2):160-5. Review.

PMID:
16114049
10.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Review.

PMID:
19328248
11.

[New chromosomal syndromes].

Schluth-Bolard C, Till M, Edery P, Sanlaville D.

Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Review. French.

PMID:
18467039
12.

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J.

Am J Hum Genet. 1993 May;52(5):895-906. Review.

13.

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.

Battaglia A.

Brain Dev. 2005 Aug;27(5):365-9. Epub 2005 Apr 22. Review.

PMID:
16023554
14.

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.

BMC Med Genet. 2004 Jun 25;5:17. Review.

15.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.

PMID:
19215041
16.

Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review.

Farrell SA, Siegel-Bartelt J, Teshima I.

Clin Genet. 1991 Sep;40(3):207-14. Review.

PMID:
1773536
17.

[The follow-up of a child with a syndrome due to partial deletion of chromosome 3 (p25-pter)].

Tucciarone L, Tomassini A, Colasanti A, Sabbi T, Stella P.

Minerva Pediatr. 1999 Jul-Aug;51(7-8):283-8. Review. Italian.

PMID:
10634062
18.

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Schwaibold EM, Zoll B, Burfeind P, Hobbiebrunken E, Wilken B, Funke R, Shoukier M.

Am J Med Genet A. 2013 Oct;161A(10):2634-40. doi: 10.1002/ajmg.a.36129. Epub 2013 Aug 15. Review.

PMID:
23949945
19.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL Jr, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW.

Eur J Hum Genet. 2015 Jan;23(1):54-60. doi: 10.1038/ejhg.2014.51. Epub 2014 Apr 16. Review.

20.

Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.

Poot M, Verrijn Stuart AA, van Daalen E, van Iperen A, van Binsbergen E, Hochstenbach R.

Eur J Med Genet. 2013 Jul;56(7):346-50. doi: 10.1016/j.ejmg.2013.04.001. Epub 2013 Apr 16. Review.

PMID:
23603061
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