Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review.

Moreno-García M, Sánchez del Pozo J, Cruz-Rojo J, Fernández-Martínez FJ, Perez-Nanclares Leal G.

Clin Dysmorphol. 2012 Jul;21(3):172-6. doi: 10.1097/MCD.0b013e3283539fe5. Review. No abstract available.

PMID:
22525095
2.

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P.

Am J Med Genet A. 2009 Dec;149A(12):2788-94. doi: 10.1002/ajmg.a.33088. Review.

3.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R.

Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.

PMID:
24056535
4.

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V.

Am J Med Genet A. 2010 Apr;152A(4):1008-12. doi: 10.1002/ajmg.a.33343.

PMID:
20358617
5.

Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW.

Am J Med Genet A. 2012 Mar;158A(3):635-40. doi: 10.1002/ajmg.a.34425. Epub 2012 Feb 2.

6.

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.

Hilhorst-Hofstee Y, Tümer Z, Born P, Knijnenburg J, Hansson K, Yatawara V, Steensberg J, Ullmann R, Arkesteijn G, Tommerup N, Larsen LA.

Am J Med Genet A. 2009 Aug;149A(8):1830-3. doi: 10.1002/ajmg.a.32977. No abstract available.

PMID:
19610119
7.

Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay.

Rim JH, Kim SW, Han SH, Yoo J.

Yonsei Med J. 2015 Nov;56(6):1742-4. doi: 10.3349/ymj.2015.56.6.1742. No abstract available.

8.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

Chen CP, Lee MJ, Chern SR, Wu PS, Su JW, Chen YT, Lee MS, Wang W.

Gene. 2013 Oct 25;529(2):351-6. doi: 10.1016/j.gene.2013.07.063. Epub 2013 Aug 13.

PMID:
23948085
9.

Second case report of del(4) (q25q27) and review of the literature.

Raczenbek C, Krassikoff N, Cosper P.

Clin Genet. 1991 Jun;39(6):463-6. Review.

PMID:
1863994
10.

Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis.

Capalbo A, Sinibaldi L, Bernardini L, Spasari I, Mancuso B, Maggi E, Novelli A.

Prenat Diagn. 2013 Aug;33(8):782-96. doi: 10.1002/pd.4105. Epub 2013 May 27. No abstract available.

PMID:
23712311
11.

De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1.

Wakui K, Nishida T, Masuda J, Itoh T, Katsumata D, Ohno T, Fukushima Y.

Jinrui Idengaku Zasshi. 1991 Jun;36(2):149-53.

PMID:
1920913
12.

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

Møller RS, Hansen CP, Jackson GD, Ullmann R, Ropers HH, Tommerup N, Tümer Z.

Clin Genet. 2007 Dec;72(6):593-8. Epub 2007 Oct 16.

PMID:
17941887
13.

De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report.

Sandal G, Ormeci AR, Oztas S.

Genet Couns. 2013;24(2):217-22.

PMID:
24032293
14.

A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.

Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY.

Korean J Lab Med. 2010 Feb;30(1):84-8. doi: 10.3343/kjlm.2010.30.1.84.

15.

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

Vona B, Nanda I, Neuner C, Schröder J, Kalscheuer VM, Shehata-Dieler W, Haaf T.

BMC Med Genet. 2014 Jun 25;15:72. doi: 10.1186/1471-2350-15-72. Review.

16.

A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.

Alesi V, Barrano G, Morara S, Darelli D, Petrilli K, Capalbo A, Pacella M, Haass C, Finocchi M, Novelli A, Bertoli M.

Am J Med Genet A. 2011 Oct;155A(10):2543-51. doi: 10.1002/ajmg.a.34201. Epub 2011 Sep 9.

PMID:
21910230
17.

[Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion].

Mun SJ, Cho EH, Chey MJ, Shim GH, Shin BM, Lee RK, Ko JK, Yoo SJ.

Korean J Lab Med. 2010 Feb;30(1):89-92. doi: 10.3343/kjlm.2010.30.1.89. Korean.

18.

A 3-day-old infant with a congenital heart defect and hypocalcemia. 22q11 deletion syndrome.

Angle B.

Pediatr Ann. 2007 May;36(5):275-6. No abstract available.

PMID:
17515164
19.

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.

Horbinski C, Carter EM, Heard PL, Sathanoori M, Hu J, Vockley J, Gunn S, Hale DE, Surti U, Cody JD.

Am J Med Genet A. 2008 Nov 15;146A(22):2898-904. doi: 10.1002/ajmg.a.32557.

20.

Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.

Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.

Am J Med Genet A. 2010 Apr;152A(4):1028-32. doi: 10.1002/ajmg.a.33121. No abstract available.

PMID:
20358621

Supplemental Content

Support Center