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Items: 1 to 20 of 81

1.

Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis.

Sood R, Bader PI, Speer MC, Edwards YH, Eddings EM, Blair RT, Hu P, Faruque MU, Robbins CM, Zhang H, Leuders J, Morrison K, Thompson D, Schwartzberg PL, Meltzer PS, Trent JM.

Cytogenet Genome Res. 2004;106(1):61-7.

PMID:
15218243
2.
3.

Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Graw SL, Sample T, Bleskan J, Sujansky E, Patterson D.

Am J Hum Genet. 2000 Mar;66(3):1138-44.

4.

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K.

Am J Hum Genet. 2001 Apr;68(4):848-58. Epub 2001 Mar 9.

5.

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G.

Hum Genet. 1997 May;99(5):596-601.

PMID:
9150724
7.

t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes.

Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA.

Proc Natl Acad Sci U S A. 1998 May 26;95(11):6413-8. Erratum in: Proc Natl Acad Sci U S A 1998 Aug 18;95(17):10344.

9.

Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation.

Iida A, Emi M, Matsuoka R, Hiratsuka E, Okui K, Ohashi H, Inazawa J, Fukushima Y, Imai T, Nakamura Y.

Hum Genet. 2000 Mar;106(3):277-87.

PMID:
10798355
10.

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.

Tadin-Strapps M, Warburton D, Baumeister FA, Fischer SG, Yonan J, Gilliam TC, Christiano AM.

Cytogenet Genome Res. 2004;107(1-2):68-76.

PMID:
15305058
11.

Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.

Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel DM, Bastard C, Treleaven JG, Catovsky D, Silva ML, Dyer MJ.

Blood. 1998 Mar 15;91(6):1873-81.

12.

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W.

Eur J Pediatr. 1999 Nov;158(11):902-5.

PMID:
10541945
13.

Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip.

Beiraghi S, Zhou M, Talmadge CB, Went-Sumegi N, Davis JR, Huang D, Saal H, Seemayer TA, Sumegi J.

Gene. 2003 Apr 24;309(1):11-21.

PMID:
12727354
14.

Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo.

Dauwerse JG, Wessels JW, Giles RH, Wiegant J, van der Reijden BA, Fugazza G, Jumelet EA, Smit E, Baas F, Raap AK, et al.

Hum Mol Genet. 1993 Oct;2(10):1527-34.

PMID:
8268905
15.

Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele.

Chatkupt S, Speer MC, Ding Y, Thomas M, Stenroos ES, Dermody JJ, Koenigsberger MR, Ott J, Johnson WG.

Am J Med Genet. 1994 Aug 1;52(1):1-4.

PMID:
7977450
16.

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.

Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA.

Am J Med Genet A. 2010 Dec;152A(12):3148-53. doi: 10.1002/ajmg.a.33738. Review.

PMID:
21108400
17.

Fine mapping of the constitutional translocation t(11;22)(q23;q11).

Tapia-Páez I, O'Brien KP, Kost-Alimova M, Sahlén S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP.

Hum Genet. 2000 May;106(5):506-16.

PMID:
10914680
18.

Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9.

Kehrer-Sawatzki H, Szamalek JM, Tänzer S, Platzer M, Hameister H.

Genomics. 2005 May;85(5):542-50.

PMID:
15820305
20.

Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.

Ohta T, Nakano M, Tsujita T, Abe K, Osoegawa K, Yamagata T, Yoshiura K, Jinno Y, Soeda E, Nakamura Y, Niikawa N.

Am J Hum Genet. 1996 Mar;58(3):544-50.

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