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Items: 1 to 20 of 105

1.

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM.

Am J Med Genet A. 2009 Mar;149A(3):396-402. doi: 10.1002/ajmg.a.32691.

2.

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
3.

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
4.

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.

Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F.

Am J Med Genet A. 2011 Nov;155A(11):2871-8. doi: 10.1002/ajmg.a.34286. Epub 2011 Oct 12.

PMID:
21994138
5.
6.
7.

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M.

Am J Med Genet A. 2006 Apr 1;140(7):704-8.

PMID:
16502431
8.

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

Arrington CB, Cowley BC, Nightingale DR, Zhou H, Brothman AR, Viskochil DH.

Am J Med Genet A. 2005 Mar 15;133A(3):326-30.

PMID:
15672384
9.

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.

Courtens W, Petersen MB, Noël JC, Flament-Durand J, Van Regemorter N, Delneste D, Cochaux P, Verschraegen-Spae MR, Van Roy N, Speleman F, et al.

Am J Med Genet. 1994 Jul 1;51(3):260-5. Review.

PMID:
8074156
10.

Delineation of the cryptic 1qter deletion phenotype.

Merritt JL 2nd, Zou Y, Jalal SM, Michels VV.

Am J Med Genet A. 2007 Mar 15;143A(6):599-603.

PMID:
17304549
11.

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM.

Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12.

PMID:
18282818
12.

Interstitial del(20)(q11.2q12) - clinical and molecular cytogenetic characterization.

Iqbal MA, Al-Owain M.

Am J Med Genet A. 2007 Aug 15;143A(16):1880-4.

PMID:
17632777
13.

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
14.

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies.

Yamamoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K.

Am J Med Genet A. 2006 Jan 1;140(1):88-91.

PMID:
16333830
15.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
16.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

Courtens W, Tjalma W, Messiaen L, Vamos E, Martin JJ, Van Bogaert E, Keersmaekers G, Meulyzer P, Wauters J.

Am J Med Genet. 1998 May 18;77(3):188-97.

PMID:
9605585
17.

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.

Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V.

Am J Med Genet A. 2006 May 15;140(10):1108-10.

PMID:
16619204
18.

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

López-Exposito I, Guillén-Navarro E, Bafallíu JA, Bernabé MC, Escalona A, Fuster C.

Eur J Med Genet. 2006 Nov-Dec;49(6):511-5. Epub 2006 Jun 23.

PMID:
16824814
19.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
20.

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Neas KR, Smith JM, Chia N, Huseyin S, St Heaps L, Peters G, Sholler G, Tzioumi D, Sillence DO, Mowat D.

Am J Med Genet A. 2005 Feb 1;132A(4):425-30. Review.

PMID:
15633179

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