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Items: 1 to 20 of 172

1.

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Driggers RW, Macri CJ, Greenwald J, Carpenter D, Avallone J, Howard-Peebles PN, Levin SW.

Am J Med Genet. 1999 Nov 26;87(3):201-2. Review.

PMID:
10564870
2.
3.

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV.

Am J Med Genet A. 2006 Aug 15;140(16):1711-8.

PMID:
16835935
4.

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.

Guichet A, Triau S, Lépinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D.

Prenat Diagn. 2004 Oct;24(10):828-32.

PMID:
15503273
5.

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE.

Am J Med Genet. 1996 Jan 2;61(1):45-8. Review.

PMID:
8741917
6.

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

Imaizumi K, Kimura J, Matsuo M, Kurosawa K, Masuno M, Niikawa N, Kuroki Y.

Am J Med Genet. 2002 Jan 1;107(1):58-60.

PMID:
11807869
7.

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).

Hou JW.

Am J Med Genet A. 2004 Oct 1;130A(2):200-3.

PMID:
15372519
8.

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2).

Imaizumi K, Masuno M, Ishii T, Kuroki Y, Okuzumi N, Nakamura Y.

Am J Med Genet. 1997 Dec 19;73(3):244-6.

PMID:
9415677
9.

Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).

Kurbasic M, Jones FV, Cook LN.

Ophthalmic Genet. 2000 Dec;21(4):239-42.

PMID:
11135495
10.

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N.

J Med Genet. 1997 Sep;34(9):779-82.

11.

Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)].

Freeman SB, Muralidharan K, Pettay D, Blackston RD, May KM.

Am J Med Genet. 1996 Feb 2;61(4):340-4.

PMID:
8834045
12.

[Congenital anophthalmias: a case of trisomy 13].

Kouassi FX, Koffi KV, Safede K, Cochard C, Cochener B.

J Fr Ophtalmol. 2006 Apr;29(4):e10. French.

13.

Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base.

Odell JM, Siebert JR, Bradley C, Salk D.

Am J Med Genet. 1987 Jul;27(3):687-92.

PMID:
3631140
14.

[Bilateral anophthalmos. Facial anomalies and t(4;14) translocation].

Serville F, Broustet A, Peyresblanques J, Bouineau J.

J Genet Hum. 1974 Dec;22(4):341-51. French. No abstract available.

PMID:
4461763
15.

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.

Gläser B, Shirneshan K, Bink K, Wirth J, Kehrer-Sawatzki H, Bartz U, Zoll B, Bohlander SK.

Am J Med Genet A. 2004 Apr 30;126A(3):229-36.

PMID:
15054834
17.

De novo complex chromosome rearrangement: a study of two patients.

Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM.

Genet Couns. 2004;15(3):303-10.

PMID:
15517822
18.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.

Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.

Clin Dysmorphol. 2007 Oct;16(4):253-6.

PMID:
17786117
19.

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P.

Am J Med Genet A. 2007 Jun 15;143A(12):1268-81.

PMID:
17506106
20.

Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.

Lemyre E, Lemieux N, Décarie JC, Lambert M.

Am J Med Genet. 1998 May 1;77(2):162-5. Review.

PMID:
9605291
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