Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 14

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.

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
3.

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

Lemyre E, Lemieux N, D├ęcarie JC, Lambert M.

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

PMID:
9605291
4.

Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation.

Smith SA, Martin KE, Dodd KL, Young ID.

Clin Dysmorphol. 1994 Oct;3(4):287-91. Review.

PMID:
7894732
5.

Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).

Dimitrov B, Devriendt K, Maas NM, Vermeesch JR, Zahariev D, Avdjieva D, Popova A, Fryns JP, Simeonov E.

Genet Couns. 2004;15(2):191-7. Review. Erratum in: Genet Couns. 2004;15(3):395. Popova, DAA [corrected to Avdjieva, D]; Popova, DAA [ corrected to Popova, A].

PMID:
15287419
6.

Prenatal diagnosis of de novo X;autosome translocations.

Abrams L, Cotter PD.

Clin Genet. 2004 May;65(5):423-8. Review.

PMID:
15099352
7.

"Understanding Adam" multiple reciprocal translocations: complex case presentation.

Linder CE, Lu X, Kim YM, Li S, Pineda J.

J Perinat Neonatal Nurs. 2009 Apr-Jun;23(2):150-6; quiz 157-8. doi: 10.1097/JPN.0b013e3181a23dfc. Review.

PMID:
19474586
9.

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.

Clin Dysmorphol. 2007 Oct;16(4):231-9. Review.

PMID:
17786114
10.

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci GF, Bellato S, Ammenti A, Virdis R, Banchini G, Superti-Furga A.

Genet Couns. 2006;17(4):449-55. Review.

PMID:
17375532
11.

Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.

Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP.

Dermatology. 2011;223(4):306-10. doi: 10.1159/000335609. Epub 2012 Feb 7. Review.

PMID:
22327602
12.

Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.

Shah D, Jones R, Porter H, Turnpenny P.

Am J Med Genet. 1997 May 16;70(2):171-3. Review.

PMID:
9128938
13.

[A new case of true bilateral anophthalmos].

Pithon F.

Bull Soc Ophtalmol Fr. 1982 Nov;82(11):1445-50. Review. French. No abstract available.

PMID:
6764152
14.

Ophthalmo-acromelic syndrome: report and review.

Tekin M, Tutar E, Arsan S, Atay G, Bodurtha J.

Am J Med Genet. 2000 Jan 17;90(2):150-4. Review.

PMID:
10607955

Supplemental Content

Support Center