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Results: 1 to 20 of 632

1.

Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion.

Maurin ML, Labrune P, Brisset S, Le Lorc'h M, Pineau D, Castel C, Romana S, Tachdjian G.

Am J Med Genet A. 2009 Feb;149A(2):226-31. doi: 10.1002/ajmg.a.32603. Review.

PMID:
19161154
[PubMed - indexed for MEDLINE]
2.

Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.

Tassano E, Alpigiani MG, Salvati P, Gimelli S, Lorini R, Gimelli G.

Gene. 2012 Dec 15;511(2):338-40. doi: 10.1016/j.gene.2012.09.083. Epub 2012 Sep 29.

PMID:
23031810
[PubMed - indexed for MEDLINE]
3.

Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred.

Hirsch B, Baldinger S.

Am J Med Genet. 1993 Jan 1;45(1):5-8.

PMID:
8418660
[PubMed - indexed for MEDLINE]
4.

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

López-Exposito I, Guillén-Navarro E, Bafallíu JA, Bernabé MC, Escalona A, Fuster C.

Eur J Med Genet. 2006 Nov-Dec;49(6):511-5. Epub 2006 Jun 23.

PMID:
16824814
[PubMed - indexed for MEDLINE]
5.

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.

Piovani G, Borsani G, Bertini V, Kalscheuer VM, Viertel P, Bellotti D, Valseriati D, Barlati S.

Eur J Med Genet. 2006 May-Jun;49(3):215-23. Epub 2005 Aug 25.

PMID:
16762823
[PubMed - indexed for MEDLINE]
6.

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.

Prenat Diagn. 2005 Jun;25(6):451-5.

PMID:
15966060
[PubMed - indexed for MEDLINE]
7.

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF.

Am J Med Genet A. 2007 Oct 15;143A(20):2417-22.

PMID:
17853488
[PubMed - indexed for MEDLINE]
8.

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

Battaglia A, Brothman AR, Carey JC.

Am J Med Genet. 2002 Sep 15;112(1):103-6.

PMID:
12239731
[PubMed - indexed for MEDLINE]
9.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Hemmat M, Hemmat O, Anguiano A, Boyar FZ, El Naggar M, Wang JC, Wang BT, Sahoo T, Owen R, Haddadin M.

Mol Cytogenet. 2013 May 2;6(1):17. doi: 10.1186/1755-8166-6-17.

PMID:
23639048
[PubMed]
Free PMC Article
10.

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.

Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K.

Am J Med Genet. 2001 Jul 22;102(1):76-80.

PMID:
11471177
[PubMed - indexed for MEDLINE]
11.

dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.

Tokutomi T, Hayashi S, Imai K, Chida A, Ishiwata T, Asano Y, Inazawa J, Nonoyama S.

Am J Med Genet A. 2007 Jun 15;143A(12):1334-7.

PMID:
17506094
[PubMed - indexed for MEDLINE]
12.
13.

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP.

Am J Med Genet. 1995 Nov 20;59(3):369-74. Review.

PMID:
8599364
[PubMed - indexed for MEDLINE]
14.

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.

Goodman BK, Stone K, Coddett JM, Cargile CB, Gurewitsch ED, Blakemore KJ, Stetten G.

Prenat Diagn. 1999 Dec;19(12):1150-6. Review.

PMID:
10590434
[PubMed - indexed for MEDLINE]
15.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.

Eur J Hum Genet. 2007 May;15(5):548-55. Epub 2007 Mar 7.

PMID:
17342151
[PubMed - indexed for MEDLINE]
Free Article
16.

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, Dupont JM.

Am J Med Genet A. 2009 Mar;149A(3):437-45. doi: 10.1002/ajmg.a.32640.

PMID:
19206177
[PubMed - indexed for MEDLINE]
17.

Unusual 8p inverted duplication deletion with telomere capture from 8q.

Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B.

Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17.

PMID:
19041960
[PubMed - indexed for MEDLINE]
18.

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, Bartsch O.

Am J Med Genet A. 2010 Mar;152A(3):721-5. doi: 10.1002/ajmg.a.33238.

PMID:
20186810
[PubMed - indexed for MEDLINE]
19.

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C.

Am J Med Genet A. 2010 Sep;152A(9):2346-54. doi: 10.1002/ajmg.a.33601.

PMID:
20684015
[PubMed - indexed for MEDLINE]
20.

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB.

Am J Med Genet. 2002 Mar 15;108(3):192-7. Review.

PMID:
11891684
[PubMed - indexed for MEDLINE]

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