PubMed

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

Jamieson RV, Gaunt L, Donnai D, Black GC, Kerr B, Stecko O, Black GC.

Br J Ophthalmol. 2003 May;87(5):646-8. No abstract available. PMID: 12714415 [PubMed - indexed for MEDLINE]Related articlesFree article

Early sonographic detection of recurrent fetal eye anomalies.

Mashiach R, Vardimon D, Kaplan B, Shalev J, Meizner I.

Ultrasound Obstet Gynecol. 2004 Nov;24(6):640-3.PMID: 15517557 [PubMed - indexed for MEDLINE]Related articles

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).

Hertz JM, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers HH, Tommerup N, Tümer Z.

J Med Genet. 2004 Mar;41(3):e25. No abstract available. PMID: 14985396 [PubMed - indexed for MEDLINE]Related articlesFree article

[Oculomandibular dyscrania. 5-year-old girl with congenital cataract and glaucoma]

Mücke I, Käsmann-Kellner B, Ruprecht KW.

Ophthalmologe. 2004 Sep;101(9):936-8. German. No abstract available. PMID: 15448992 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Zafer E, Meck J, Gerrad L, Pras E, Frydman M, Reish O, Avni I, Pras E.

Mol Vis. 2008 Mar 14;14:530-2.PMID: 18385787 [PubMed - indexed for MEDLINE]Related articlesFree article

[Balanced translocation 1;10(q41;q25): a report of a family]

Farah LM, Corbani M, Joffe R, Andrade JA.

Rev Paul Med. 1989 Jan-Feb;107(1):62-4. Portuguese. PMID: 2616980 [PubMed - indexed for MEDLINE]Related articles

Multiple ocular abnormalities associated with trisomy 4p.

Hong S, Kang SY, Seong GJ, Shin JY, Kim CY.

Ophthalmic Surg Lasers Imaging. 2008 Sep-Oct;39(5):412-4.PMID: 18831427 [PubMed - indexed for MEDLINE]Related articles

A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis.

Nucaro A, Crisponi G, Minafra L, Rossino R, Cianchetti C.

Genet Couns. 2008;19(1):37-42.PMID: 18564499 [PubMed - indexed for MEDLINE]Related articles

[Karyotype analysis of 283 cases of myelodysplastic syndrome]

Pan HZ, Chen ZM, Lou JY, Xu WL, Jin J.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2006 Mar;35(2):143-6. Chinese. PMID: 16610079 [PubMed - indexed for MEDLINE]Related articles

Ocular manifestations in a family with probably X-linked cataracts.

Pavone L, La Rosa M, Sorge G, Scaletta S, Li Volti S, Mollica F.

Clin Genet. 1981 Oct;20(4):243-6. No abstract available. PMID: 6800675 [PubMed - indexed for MEDLINE]Related articles

[Familial translocation t (9;16) in a patient with irregular menstrual cycles]

Sledziewski A, Midro AT, Sawicka A.

Ginekol Pol. 1996 Jun;67(6):313-6. Polish. PMID: 9138988 [PubMed - indexed for MEDLINE]Related articles

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44.PMID: 17724170 [PubMed - indexed for MEDLINE]Related articlesFree article

Precocious puberty associated with partial trisomy 18q and monosomy 11q.

Mutesa L, Hellin AC, Jamar M, Pierquin G, Bours V, Verloes A.

Genet Couns. 2007;18(2):201-7.PMID: 17710872 [PubMed - indexed for MEDLINE]Related articles

[Familial hydranencephaly]

Martin C, Allain D, Vital C, Babin JP, Demarquez JL, San Juan B.

Ann Pediatr (Paris). 1977 Oct;24(10):673-8. French. No abstract available. PMID: 16211904 [PubMed - indexed for MEDLINE]Related articles

Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.

Battaglia A, Novelli A, Ceccarini C, Carey JC.

Am J Med Genet A. 2006 Jan 15;140(2):144-50.PMID: 16353244 [PubMed - indexed for MEDLINE]Related articles

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K.

Mol Vis. 2006 May 22;12:518-22.PMID: 16735993 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL.

Am J Ophthalmol. 2007 May;143(5):795-800. Epub 2007 Mar 19.PMID: 17368552 [PubMed - indexed for MEDLINE]Related articles

Genetic studies of congenital cataract.

Mostafa MS, Temtamy S, El-Gammal MY, Sayed SI, Abdel-Salam M, El-Baroudy R.

Metab Pediatr Ophthalmol. 1981;5(3-4):233-42. No abstract available. PMID: 7311663 [PubMed - indexed for MEDLINE]Related articles

Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.

Takeno SS, Corbani M, Andrade JA, Smith Mde A, Brunoni D, Melaragno MI.

Am J Med Genet A. 2004 Aug 30;129A(2):180-3.PMID: 15316961 [PubMed - indexed for MEDLINE]Related articles

Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.

de Azevedo Moreira LM, Neri FB, de Quadros Uzeda S, de Carvalho AF, Santana GC, Souza FR, Rollemberg JC.

Ophthalmic Genet. 2005 Mar;26(1):37-43.PMID: 15823924 [PubMed - indexed for MEDLINE]Related articles