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Items: 1 to 20 of 27

1.

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

Stathopulu E, Ogilvie CM, Flinter FA.

Am J Med Genet A. 2003 Jun 15;119A(3):363-6.

PMID:
12784307
2.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
3.

Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.

Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R, Pagon B, Reddy KS.

Am J Med Genet. 1999 Nov 5;87(1):17-22. Review.

PMID:
10528241
4.

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Concolino D, Cinti R, Ferraro L, Moricca MT, Strisciuglio P.

J Med Genet. 1998 Jan;35(1):75-7. Review.

5.

Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).

Mircher C, Rethore MO, Lespinasse J, Fert-Ferrer S, Lundsteen C, Kirchoff M.

Am J Med Genet A. 2003 Apr 15;118A(2):176-9. Review.

PMID:
12655498
6.

Further delineation of the chromosome 14q terminal deletion syndrome.

van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.

Am J Med Genet. 2002 Jun 1;110(1):65-72. Review.

PMID:
12116274
7.

Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).

Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A.

Am J Med Genet A. 2005 Aug 1;136A(4):381-5. Review.

PMID:
16001443
8.

A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.

Flaherty L, Moloney J, Watson N, Robson L, Bousfield L, Smith A.

J Intellect Disabil Res. 1998 Jun;42 ( Pt 3):254-8. Review.

PMID:
9678410
9.

Chromosome 5q subtelomeric deletion syndrome.

Rauch A, Dörr HG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. Review.

PMID:
17910075
10.

Free proximal trisomy 21 without the Down syndrome.

Park JP, Wurster-Hill DH, Andrews PA, Cooley WC, Graham JM Jr.

Clin Genet. 1987 Nov;32(5):342-8. Review.

PMID:
2446809
11.

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A.

Am J Med Genet A. 2005 Jan 15;132A(2):175-80. Review.

PMID:
15578619
12.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.

Am J Med Genet A. 2005 Apr 1;134A(1):12-23. Review.

PMID:
15732063
13.

Ring chromosome 17. Case report and review of the literature.

Teyssier M, Charrin C, Corgiolu Theuil G, David L.

Ann Genet. 1992;35(2):75-8. Review.

PMID:
1381884
14.

Terminal deletion of long arm of chromosome 4: patient report and literature review.

Evers LJ, Schrander-Stumpel CT, Engelen JJ, Mulder H, Borghgraef M, Fryns JP.

Genet Couns. 1993;4(2):139-45. Review.

PMID:
7689326
15.

A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.

Ousley O, Rockers K, Dell ML, Coleman K, Cubells JF.

Curr Psychiatry Rep. 2007 Apr;9(2):148-58. Review.

PMID:
17389127
16.

Subtelomeric deletion of 12p: Description of a third case and review.

Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML.

Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Review.

PMID:
20503336
17.

5p deletions: Current knowledge and future directions.

Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3. Review.

18.

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).

Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME.

Am J Med Genet. 1997 Aug 22;71(3):275-9. Review.

PMID:
9268095
19.

The role of new genetic technology in investigating autism and developmental delay.

Shur N, Gunn S, Feit L, Oh AK, Yatchmink Y, Abuelo D.

Med Health R I. 2011 May;94(5):131, 134-7. Review. No abstract available.

PMID:
21710921
20.

Ring 2 chromosome: ten-year follow-up report.

Lacassie Y, Arriaza MI, Vargas A, La Motta I.

Am J Med Genet. 1999 Jul 16;85(2):117-22. Review.

PMID:
10406663

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