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Items: 1 to 20 of 105

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.

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.

Tumiene B, Čiuladaitė Ž, Preikšaitienė E, Mameniškienė R, Utkus A, Kučinskas V.

J Appl Genet. 2017 Nov;58(4):467-474. doi: 10.1007/s13353-017-0408-3. Epub 2017 Sep 21.

PMID:
28933030
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.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Qi Z, Jeng LJ, Slavotinek A, Yu J.

BMC Med Genomics. 2015 Jul 15;8:38. doi: 10.1186/s12920-015-0113-1.

6.

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

Cobben JM, Weiss MM, van Dijk FS, De Reuver R, de Kruiff C, Pondaag W, Hennekam RC, Yntema HG.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):636-8. doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30.

PMID:
25281490
7.

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
8.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
9.

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A.

Am J Med Genet A. 2013 Dec;161A(12):2953-63. doi: 10.1002/ajmg.a.35886. Epub 2013 Oct 2.

PMID:
24123848
10.

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
11.

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
12.

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.

Moles KJ, Gowans GC, Gedela S, Beversdorf D, Yu A, Seaver LH, Schultz RA, Rosenfeld JA, Torchia BS, Shaffer LG.

Genet Med. 2012 May;14(5):508-14. doi: 10.1038/gim.2011.46. Epub 2012 Jan 12.

PMID:
22241097
13.

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular Genetic Study of Autism Consortium, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP.

Am J Med Genet A. 2009 Feb 15;149A(4):588-97. doi: 10.1002/ajmg.a.32704.

14.

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.

Hum Genet. 1997 Aug;100(2):256-61.

PMID:
9254860
15.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M.

Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9.

PMID:
20382278
16.

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
17.

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
18.

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.

19.

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.

Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J.

Hum Mutat. 2007 Aug;28(8):830.

PMID:
17623483
20.

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

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