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Items: 1 to 20 of 155

1.

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.

Posmyk R, Leśniewicz R, Gogiel M, Chorąży M, Bakunowicz-Łazarczyk A, Sielicka D, Vermeesch J, Nowakowska BA.

Am J Med Genet A. 2014 Apr;164A(4):1056-61. doi: 10.1002/ajmg.a.36394. Epub 2014 Jan 23.

PMID:
24459047
2.

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.

Hiraki Y, Nishimura A, Hayashidani M, Terada Y, Nishimura G, Okamoto N, Nishina S, Tsurusaki Y, Doi H, Saitsu H, Miyake N, Matsumoto N.

Am J Med Genet A. 2011 Feb;155A(2):409-14. doi: 10.1002/ajmg.a.33818. Epub 2011 Jan 13.

PMID:
21271663
3.

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Sanlaville D, Gosset P, Prieur M, Labenne M, Huet F, Mugneret F.

Am J Med Genet A. 2006 Sep 1;140A(17):1859-63.

PMID:
16892304
4.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G.

Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Review.

PMID:
25572454
5.

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M.

Am J Med Genet A. 2012 Dec;158A(12):3182-9. doi: 10.1002/ajmg.a.35631. Epub 2012 Nov 19.

PMID:
23166063
6.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
7.

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Fabretto A, Santa Rocca M, Perrone MD, Skabar A, Pecile V, Gasparini P.

Am J Med Genet A. 2012 Apr;158A(4):882-7. doi: 10.1002/ajmg.a.35239. Epub 2012 Mar 9.

PMID:
22407795
8.

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.

Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.

PMID:
23352671
9.

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR.

Am J Med Genet. 1997 Aug 8;71(2):189-93.

PMID:
9217220
10.

19q13.32 microdeletion syndrome: three new cases.

Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):654-8. doi: 10.1016/j.ejmg.2014.08.009. Epub 2014 Sep 16.

PMID:
25230004
11.

Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects.

Lee S, Chae H, Park IY, Kim M, Kim Y, Shin JC, Lee J, Son J.

Gene. 2012 Feb 15;494(1):105-8. doi: 10.1016/j.gene.2011.11.063. Epub 2011 Dec 8.

PMID:
22178765
12.

De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy.

Schuffenhauer S, Callen DF, Seidel H, Shen Y, Lederer G, Murken J.

Clin Genet. 1992 Nov;42(5):246-50.

PMID:
1486702
13.

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.

Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME.

J Med Genet. 2007 Apr;44(4):269-76. Epub 2006 Sep 8.

14.

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.

Shoukier M, Wickert J, Schröder J, Bartels I, Auber B, Zoll B, Salinas-Riester G, Weise D, Brockmann K, Zirn B, Burfeind P.

Am J Med Genet A. 2012 Jan;158A(1):229-35. doi: 10.1002/ajmg.a.34387. Epub 2011 Dec 2.

PMID:
22140031
15.

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.

Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15.

PMID:
20951845
16.

Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).

Shimojima K, Páez MT, Kurosawa K, Yamamoto T.

Brain Dev. 2009 Sep;31(8):629-33. doi: 10.1016/j.braindev.2008.08.013. Epub 2008 Oct 5.

PMID:
18835671
17.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
18.

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.

Pavone P, Briuglia S, Falsaperla R, Warm A, Pavone V, Bernardini L, Novelli A, Praticò AD, Salpietro V, Ruggieri M.

Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7. Review.

PMID:
24807585
19.

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.

Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.

Am J Med Genet A. 2005 Feb 1;132A(4):402-10. Review.

PMID:
15742475
20.

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.

Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.

PMID:
19576304

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