Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 181

1.

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.

Wincent J, Schoumans J, Anderlid BM.

Eur J Med Genet. 2010 Jan-Feb;53(1):50-3. doi: 10.1016/j.ejmg.2009.10.003. Epub 2009 Oct 24.

PMID:
19857611
2.

An emerging phenotype of proximal 11q deletions.

Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G.

Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3.

PMID:
20688202
3.

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.

Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti GV.

Am J Med Genet A. 2008 Sep 1;146A(17):2234-41. doi: 10.1002/ajmg.a.32397.

PMID:
18666229
4.

Interstitial deletion of chromosome 10q23: a new case and review.

Farrell SA, Szymonowicz W, Chow G, Summers AM.

J Med Genet. 1993 Mar;30(3):248-50. Review.

5.

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.

Ji T, Wu Y, Wang H, Wang J, Jiang Y.

J Hum Genet. 2010 Aug;55(8):486-9. doi: 10.1038/jhg.2010.51. Epub 2010 Jun 3.

PMID:
20520618
6.

Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.

Rea G, McCullough S, McNerlan S, Craig B, Morrison PJ.

Eur J Med Genet. 2010 May-Jun;53(3):162-7. doi: 10.1016/j.ejmg.2010.02.008. Epub 2010 Mar 6.

PMID:
20215058
7.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
8.

Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.

Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H.

Am J Med Genet A. 2010 Feb;152A(2):441-6. doi: 10.1002/ajmg.a.33215.

PMID:
20101686
9.

De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].

Lo BH, Murch A, Chabros V, Withnell R.

J Paediatr Child Health. 1996 Aug;32(4):347-9.

PMID:
8844544
10.

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G.

Am J Med Genet A. 2011 Feb;155A(2):424-9. doi: 10.1002/ajmg.a.33821.

PMID:
21271666
11.

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
12.

Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.

Meschede D, Exeler R, Wittwer B, Horst J.

Am J Med Genet. 1998 Dec 28;80(5):443-7.

PMID:
9880206
13.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766.

PMID:
21204233
14.

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A.

Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15.

PMID:
21167329
15.

De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders.

Milani D, Bedeschi MF, Iascone M, Chiarelli G, Cerutti M, Menni F.

Cytogenet Genome Res. 2012;136(3):167-70. doi: 10.1159/000336979. Epub 2012 Mar 7.

PMID:
22398643
16.

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
17.

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel PM.

J Hum Genet. 2003;48(6):283-7. Epub 2003 Apr 24.

PMID:
12836054
18.

De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.

Xiao B, Xu H, Ye H, Hu Q, Chen Y, Qiu W.

Am J Med Genet A. 2015 Oct;167A(10):2327-33. doi: 10.1002/ajmg.a.37179. Epub 2015 Jun 10.

PMID:
26061664
19.

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, Ropers HH, Tommerup N, Ullmann R, Tümer Z, Larsen LA.

Eur J Med Genet. 2008 Jan-Feb;51(1):81-6. Epub 2007 Oct 11.

PMID:
17998172
20.

Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay.

Syrrou M, Fryns JP.

J Med Genet. 2001 Sep;38(9):621-4. No abstract available.

Supplemental Content

Support Center