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Items: 1 to 20 of 152

1.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.

Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x.

PMID:
19793054
2.

Ring chromosome 17: phenotype variation by deletion size.

Shashi V, White JR, Pettenati MJ, Root SK, Bell WL.

Clin Genet. 2003 Oct;64(4):361-5.

PMID:
12974742
3.

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.

J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.

PMID:
19584063
4.

A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion.

Morava E, Bartsch O, Czako M, Frensel A, Kárteszi J, Kosztolányi GY.

Genet Couns. 2003;14(3):337-42.

PMID:
14577679
5.

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.

Am J Med Genet. 2000 Sep 18;94(3):254-61.

PMID:
10995514
6.
7.

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brøndum-Nielsen K.

Am J Med Genet A. 2004 Nov 1;130A(4):340-4.

PMID:
15384084
8.

Further delineation of the chromosome 14q terminal deletion syndrome.

van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.

Am J Med Genet. 2002 Jun 1;110(1):65-72. Review.

PMID:
12116274
9.

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR.

Am J Hum Genet. 1999 Apr;64(4):1119-26.

10.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL.

Am J Med Genet A. 2003 Mar 15;117A(3):251-4.

PMID:
12599188
11.

VI. Genome structure and cognitive map of Williams syndrome.

Korenberg JR, Chen XN, Hirota H, Lai Z, Bellugi U, Burian D, Roe B, Matsuoka R.

J Cogn Neurosci. 2000;12 Suppl 1:89-107.

PMID:
10953236
12.

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.

Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti GV.

Am J Med Genet A. 2008 Sep 1;146A(17):2234-41. doi: 10.1002/ajmg.a.32397.

PMID:
18666229
13.

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.

Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A.

Am J Med Genet A. 2004 Oct 1;130A(2):196-9.

PMID:
15372517
14.

Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.

Laleye A, Alao MJ, Adjagba M, Hans C, Delneste D, Gnamey DK, Ayivi B, Darboux RB.

Genet Couns. 2006;17(1):35-40.

PMID:
16719275
15.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.

Am J Hum Genet. 1997 Sep;61(3):642-50.

16.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
17.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
18.

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.

Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW.

Am J Med Genet A. 2005 Oct 15;138A(3):218-24.

PMID:
16152642
19.

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.

Am J Med Genet A. 2004 Aug 1;128A(4):364-73.

PMID:
15264281
20.

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.

Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X.

Hum Genet. 1996 Oct;98(4):460-6.

PMID:
8792823

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