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Items: 1 to 20 of 36

1.

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B.

Am J Med Genet A. 2007 May 15;143A(10):1091-9.

PMID:
17431920
2.

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.

Eash D, Waggoner D, Chung J, Stevenson D, Martin CL.

Clin Genet. 2005 May;67(5):396-403.

PMID:
15811006
3.

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S.

Genet Med. 2004 Mar-Apr;6(2):81-9.

PMID:
15017330
4.

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter.

Kraus J, Lederer G, Keri C, Seidel H, Rost I, Wirtz A, Fauth C, Speicher MR.

J Med Genet. 2003 Apr;40(4):e48. No abstract available.

5.
6.

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A.

Eur J Hum Genet. 2001 May;9(5):319-27.

7.

Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation.

Ion A, Copin H, Barnoux M, Ajzenberg C, Lesoud A, Cussenot O, Lubetzki J, Telvi L.

J Med Genet. 2000 Dec;37(12):972-4. No abstract available.

8.

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.

von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger LK.

Am J Med Genet. 2000 Feb 14;90(4):270-5.

PMID:
10710222
9.

Interchange trisomy 9 due to maternal t(6;9) translocation.

Ninomiya S, Narahara K, Yokoyama Y, Tsuji K, Ito S, Akahori W, Akahori T, Seino Y.

Acta Paediatr Jpn. 1994 Oct;36(5):519-21.

PMID:
7825455
10.

Duplication 15q22 to 15qter and its phenotypic expression.

Gregoire MJ, Boue J, Junien C, Pernot C, Gilgenkrantz S, Zergollern L.

Hum Genet. 1981;59(4):429-33. No abstract available.

PMID:
7333596
12.

Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations.

Meer B, Wolff G, Back E.

Hum Genet. 1981;58(2):221-5. No abstract available.

PMID:
7197256
13.

Partial trisomy 15q dist--a new syndrome?

Zergollern L, Hitrec V, Begović D.

Acta Med Iugosl. 1982;36(1):65-75. No abstract available.

PMID:
7064728
14.

Cytogenetic investigations in 418 couples with recurrent fetal wastage.

Osztovics MK, Tóth SP, Wessely JA.

Ann Genet. 1982;25(4):232-6.

PMID:
6985013
15.

An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.

Scarbrough PR, Daw J, Carroll AJ, Finley SC.

J Med Genet. 1984 Jun;21(3):226-8.

16.

Cytogenetic survey in couples with recurrent fetal wastage.

Fryns JP, Kleczkowska A, Kubień E, Petit P, Van den Berghe H.

Hum Genet. 1984;65(4):336-54.

PMID:
6693122
17.
18.

A familial translocation t(6q+;8q-) identified by fluorescence microscopy.

Niebuhr E.

Humangenetik. 1973 Apr 16;18(2):189-92. No abstract available.

PMID:
4737101
19.

Three translocations involving C- or G-group chromosomes.

Nakagome Y, Inuma K, Matsui I.

J Med Genet. 1973 Jun;10(2):174-6. No abstract available.

20.

De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms.

Hattori H, Hayashi K, Okuno T, Temma S, Fujii T, Ochi J, Mikawa H.

Epilepsia. 1985 Jul-Aug;26(4):310-3.

PMID:
4006889
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