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Items: 1 to 20 of 364

1.

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.

2.

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
3.

Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.

Momma K, Kondo C, Matsuoka R.

J Am Coll Cardiol. 1996 Jan;27(1):198-202.

4.

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.

Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K.

Hum Genet. 1998 Jul;103(1):70-80.

PMID:
9737780
5.

Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome.

Momma K, Kondo C, Matsuoka R, Takao A.

Am J Cardiol. 1996 Sep 1;78(5):591-4.

PMID:
8806353
6.

Genetic basis of DiGeorge and velocardiofacial syndromes.

Driscoll DA.

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

PMID:
7849818
7.

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
8.

Tetralogy of Fallot associated with chromosome 22q11 deletion.

Momma K, Kondo C, Ando M, Matsuoka R, Takao A.

Am J Cardiol. 1995 Sep 15;76(8):618-21. No abstract available.

PMID:
7677092
9.

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
10.

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.

11.

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.

Pathologica. 1999 Jun;91(3):166-72. Review.

PMID:
10536461
12.

Phenotypic discordance in monozygotic twins with 22q11.2 deletion.

Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N.

Am J Med Genet. 1998 Jul 24;78(4):319-21.

PMID:
9714432
13.

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
14.

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

Webber SA, Hatchwell E, Barber JC, Daubeney PE, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR.

J Pediatr. 1996 Jul;129(1):26-32.

PMID:
8757559
15.

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
16.

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
17.

[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
19.

Microdeletion 22q11 and oesophageal atresia.

Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B.

J Med Genet. 1999 Feb;36(2):137-9.

20.

Towards earlier diagnosis of 22q11 deletions.

Tobias ES, Morrison N, Whiteford ML, Tolmie JL.

Arch Dis Child. 1999 Dec;81(6):513-4.

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