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Items: 1 to 20 of 317

1.

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

Oskarsdóttir S, Vujic M, Fasth A.

Arch Dis Child. 2004 Feb;89(2):148-51.

2.

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM.

Pediatrics. 2003 Jul;112(1 Pt 1):101-7.

PMID:
12837874
3.

The 22q11.2 deletion syndrome.

Yamagishi H.

Keio J Med. 2002 Jun;51(2):77-88. Review.

4.

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
5.

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS.

J Med Genet. 1993 Oct;30(10):807-12.

6.

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.

Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Röthlisberger B, Schinzel A.

Clin Genet. 1998 Jan;53(1):63-9.

PMID:
9550365
7.

22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment.

Tan KB, Chew SK, Yeo GS.

Singapore Med J. 2008 Apr;49(4):286-9.

8.

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.

9.

Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Perez EE, Bokszczanin A, McDonald-McGinn D, Zackai EH, Sullivan KE.

Pediatrics. 2003 Oct;112(4):e325.

PMID:
14523220
10.

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A.

Am J Med Genet. 1995 Jul 3;57(3):514-22.

PMID:
7677167
11.

Genetic basis of DiGeorge and velocardiofacial syndromes.

Driscoll DA.

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

PMID:
7849818
12.

Chromosome 22q11 deletion syndrome: the first three cases reported in Thailand.

Ruangdaraganon N, Tocharoentanaphol C, Khowsathit P, Sombuntham T, Pongpanich B.

J Med Assoc Thai. 1999 Nov;82 Suppl 1:S179-85.

PMID:
10730540
13.

Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome.

Pierpont JW, Erickson RP, Thompson FH, Yang JM.

Clin Genet. 1996 Dec;50(6):545-7.

PMID:
9147896
14.

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.

Cuneo BF.

Curr Opin Pediatr. 2001 Oct;13(5):465-72. Review. Erratum in: Curr Opin Pediatr 2002 Apr;14(2):286.

PMID:
11801894
15.

[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].

Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G.

Rev Med Chil. 2001 May;129(5):515-21. Spanish.

PMID:
11464533
16.

Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.

Morava E, Czakó M, Melegh B, Kosztolányi G.

Clin Genet. 2000 Nov;58(5):403-5.

PMID:
11140842
17.

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
18.

[A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease].

Pawłowska B, Tomankiewicz-Zawadzka A, Ilnicka A, Bogdanowicz J, Wciórka J, Szafrański T, Woźniak P, Meder J, Szaniawska-Bartnicka A, Zdzienicka E, Szirkowiec W, Zaremba J.

Psychiatr Pol. 2007 Mar-Apr;41(2):251-60. Polish.

PMID:
17598434
19.

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
20.

Executive functions and memory abilities in children with 22q11.2 deletion syndrome.

Campbell LE, Azuma R, Ambery F, Stevens A, Smith A, Morris RG, Murphy DG, Murphy KC.

Aust N Z J Psychiatry. 2010 Apr;44(4):364-71. doi: 10.3109/00048670903489882.

PMID:
20307169

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