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Items: 1 to 20 of 92

1.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID.

Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27.

2.

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.

Vargiami E, Ververi A, Kyriazi M, Papathanasiou E, Gioula G, Gerou S, Al-Mutawa H, Kambouris M, Zafeiriou DI.

Am J Med Genet A. 2014 Mar;164A(3):764-8. doi: 10.1002/ajmg.a.36329. Epub 2013 Dec 19.

PMID:
24357427
3.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
4.

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
5.

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.

6.

Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.

Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H.

Am J Med Genet A. 2010 Feb;152A(2):441-6. doi: 10.1002/ajmg.a.33215.

PMID:
20101686
7.

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR.

PLoS One. 2010 Aug 27;5(8):e12462. doi: 10.1371/journal.pone.0012462.

8.

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
9.

The 6p subtelomere deletion syndrome.

DeScipio C.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):377-82. Review.

PMID:
17918735
10.

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

Wester U, Bondeson ML, Edeby C, Annerén G.

Am J Med Genet A. 2006 Jun 1;140(11):1164-71.

PMID:
16691587
11.

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P.

J Hum Genet. 2008;53(10):876-85. doi: 10.1007/s10038-008-0321-z. Epub 2008 Jul 24.

PMID:
18651096
12.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
13.

Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.

Béri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P.

Eur J Hum Genet. 2007 Apr;15(4):446-52. Epub 2007 Feb 7.

14.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.

Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.

Clin Dysmorphol. 2007 Oct;16(4):253-6.

PMID:
17786117
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.

Cryptic subtelomeric translocations in the 22q13 deletion syndrome.

Praphanphoj V, Goodman BK, Thomas GH, Raymond GV.

J Med Genet. 2000 Jan;37(1):58-61.

17.

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD.

J Med Genet. 2001 Mar;38(3):151-8.

18.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541
19.

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.

BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48. Review.

20.

Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Sills ES, Burns MJ, Parker LD, Carroll LP, Kephart LL, Dyer CS, Papenhausen PR, Davis JG.

Orphanet J Rare Dis. 2007 Feb 12;2:9.

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