Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 188

1.

Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2.

Sharma J, Friedman D, Schiller M, Flynn P, Alonso ML.

Int J Cardiol. 1997 Dec 19;62(3):199-202.

PMID:
9476678
2.

De novo interstitial deletion of chromosome 1p with absent corpus callosum--a case report.

Sivasankaran S, Ho NK, Knight L.

Ann Acad Med Singapore. 1997 Jul;26(4):507-9.

PMID:
9395821
3.

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

Maas SM, Hoovers JM, van Seggelen ME, Menzel DM, Hennekam RC.

Clin Dysmorphol. 2000 Jan;9(1):47-53.

PMID:
10649798
4.

Deletion of the terminal segment of the long arm of chromosome 4 with aortic stenosis.

Ho NK, Ng IS.

J Paediatr Child Health. 1993 Dec;29(6):473-5.

PMID:
8286168
5.

Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).

Gibbons B, Tan SY, Kee SK, Quaife R, Lim ST.

Am J Med Genet. 1999 Sep 17;86(3):289-93. Review.

PMID:
10482883
6.

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR.

Am J Med Genet. 1997 Aug 8;71(2):189-93.

PMID:
9217220
7.

Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37).

Wang TH, Johnston K, Hsieh CL, Dennery PA.

Am J Med Genet. 1994 Feb 15;49(4):399-401. Review.

PMID:
8160733
8.

Heart disease associated with deletion of the short arm of chromosome 18.

Movahhedian HR, Kane HA, Borgaonkar D, McDermott M, Septimus S.

Del Med J. 1991 May;63(5):285-9. Review.

PMID:
1860515
9.

De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14).

Antich J, Carbonell X, Mas J, Clusellas N.

Acta Paediatr Scand. 1983 Jul;72(4):631-3.

PMID:
6624439
10.
11.

Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11.

Marino B, Mileto F, Digilio MC.

Ann Thorac Surg. 2003 Jun;75(6):2010-1; author reply 2011. No abstract available.

PMID:
12822669
12.

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.

Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.

PMID:
19576304
14.

Deletion in chromosome region 22q11 in a child with CHARGE association.

Devriendt K, Swillen A, Fryns JP.

Clin Genet. 1998 May;53(5):408-10.

PMID:
9660062
15.

Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A.

Am J Med Genet A. 2005 May 1;134(4):439-42.

PMID:
15810003
16.

Interstitial deletion of the long arm of chromosome 4.

Chudley AE, Verna MR, Ray M, Riordan D.

Am J Med Genet. 1988 Nov;31(3):549-51. No abstract available.

PMID:
3228137
17.

Pulmonary atresia with intact ventricular septum--a report of two cases with review of literature.

Mysorekar VV, Rao SG, Dandekar CP.

J Indian Med Assoc. 1999 Jul;97(7):287-8. Review.

PMID:
10643194
18.

Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy.

Golabi M, James AW, Desai N, Culver K, Cotter PD.

Am J Med Genet A. 2009 Feb 15;149A(4):693-7. doi: 10.1002/ajmg.a.32755.

PMID:
19283856
19.

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.

Genuardi M, Calvieri F, Tozzi C, Coslovi R, Neri G.

Clin Dysmorphol. 1994 Oct;3(4):292-6. Review.

PMID:
7894733
20.

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

Supplemental Content

Support Center