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Items: 1 to 20 of 406

1.

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, Lam ST, Chan KY, Kan AS, Chau AK, Cheung YF, Lau YL, Chung BH.

Eur J Med Genet. 2014 May-Jun;57(6):306-11. doi: 10.1016/j.ejmg.2014.03.014. Epub 2014 Apr 8.

PMID:
24721633
2.

Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.

Huber J, Peres VC, de Castro AL, dos Santos TJ, da Fontoura Beltrão L, de Baumont AC, Cossio SL, Dalberto TP, Riegel M, Cañedo AD, Schaan BD, Pellanda LC.

Pediatr Cardiol. 2014 Dec;35(8):1356-62. doi: 10.1007/s00246-014-0936-0. Epub 2014 Jun 1.

PMID:
24880467
3.

Anatomic patterns of conotruncal defects associated with deletion 22q11.

Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B.

Genet Med. 2001 Jan-Feb;3(1):45-8.

PMID:
11339377
4.

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ 3rd, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH.

Pediatrics. 1997 May;99(5):E9.

PMID:
9113966
5.

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.

Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y.

Eur J Pediatr. 1995 Nov;154(11):878-81.

PMID:
8582397
6.

Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.

Fung WL, Chow EW, Webb GD, Gatzoulis MA, Bassett AS.

Int J Cardiol. 2008 Dec 17;131(1):51-8. doi: 10.1016/j.ijcard.2007.08.141. Epub 2008 Jan 11.

7.

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL.

Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26.

PMID:
23440478
8.

Screening of patients at risk for 22q11 deletion.

Barisić I, Morozin Pohovski L, Petković I, Cvetko Z, Stipancić G, Bagatin M.

Coll Antropol. 2008 Mar;32(1):165-9.

PMID:
18494202
9.

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV.

J Am Coll Cardiol. 2005 Feb 15;45(4):595-8.

10.

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.

Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A.

BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.

11.

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K.

Am J Med Genet. 1994 Nov 15;53(3):285-9.

PMID:
7856665
12.

Frequency of 22q11 deletions in patients with conotruncal defects.

Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA.

J Am Coll Cardiol. 1998 Aug;32(2):492-8.

13.

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH.

Genet Med. 2001 Jan-Feb;3(1):23-9.

PMID:
11339373
14.

Genetic basis of DiGeorge and velocardiofacial syndromes.

Driscoll DA.

Curr Opin Pediatr. 1994 Dec;6(6):702-6. Review.

PMID:
7849818
15.

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J.

J Med Genet. 1993 Oct;30(10):822-4.

16.

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M.

Am J Med Genet A. 2006 Nov 15;140(22):2426-32.

PMID:
17041934
17.

Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.

Shetty M, Srikanth A, Kadandale J, Hegde S.

Cytogenet Genome Res. 2016;148(4):249-55. doi: 10.1159/000446162. Epub 2016 Jun 15.

PMID:
27300488
18.

Presenting symptoms in adults with the 22q11 deletion syndrome.

Vogels A, Schevenels S, Cayenberghs R, Weyts E, Van Buggenhout G, Swillen A, Van Esch H, de Ravel T, Corveleyn P, Devriendt K.

Eur J Med Genet. 2014 Mar;57(4):157-62. doi: 10.1016/j.ejmg.2014.02.008. Epub 2014 Feb 24.

PMID:
24576609
19.

PCR assay for screening patients at risk for 22q11.2 deletion.

Driscoll DA, Emanuel BS, Mitchell LE, Budarf ML.

Genet Test. 1997;1(2):109-13.

PMID:
10464634
20.

Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.

Alikaşifoğlu M, Malkoç N, Ceviz N, Ozme S, Uludoğan S, Tunçbilek E.

Turk J Pediatr. 2000 Jul-Sep;42(3):215-8.

PMID:
11105620

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