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Results: 1 to 20 of 89

1.

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Plaisancié J, Bouneau L, Cances C, Garnier C, Benesteau J, Leonard S, Bourrouillou G, Calvas P, Vigouroux A, Julia S, Bieth E.

Eur J Med Genet. 2014 Jan;57(1):47-53. doi: 10.1016/j.ejmg.2013.11.002. Epub 2013 Nov 23.

PMID:
24275544
[PubMed - in process]
2.

Partial monosomy of distal 10q: three new cases and a review.

Waggoner DJ, Chow CK, Dowton SB, Watson MS.

Am J Med Genet. 1999 Sep 3;86(1):1-5. Review.

PMID:
10440820
[PubMed - indexed for MEDLINE]
3.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E.

Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3.

PMID:
23294540
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA.

Am J Med Genet A. 2014 Jan;164A(1):62-9. doi: 10.1002/ajmg.a.36201. Epub 2013 Nov 15.

PMID:
24243649
[PubMed - in process]
6.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T.

Kidney Int. 2000 Dec;58(6):2281-90.

PMID:
11115062
[PubMed - indexed for MEDLINE]
Free Article
7.

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.

Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Review.

PMID:
21964744
[PubMed - indexed for MEDLINE]
8.

Chromosomal 10Q26 trisomy resulting from paternal T(9;10)(PTER;Q26.1).

Hou JW.

J Formos Med Assoc. 2003 Dec;102(12):887-92.

PMID:
14976570
[PubMed - indexed for MEDLINE]
9.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG.

Am J Med Genet A. 2010 Aug;152A(8):1951-9. doi: 10.1002/ajmg.a.33516.

PMID:
20635359
[PubMed - indexed for MEDLINE]
10.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

PMID:
22216833
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract.

Chang YT, Chou IC, Wang CH, Chin ZN, Kuo HT, Lin CC, Tsai CH, Tsai FJ.

Pediatr Neonatol. 2013 Apr;54(2):132-6. doi: 10.1016/j.pedneo.2012.10.010. Epub 2012 Dec 8.

PMID:
23590959
[PubMed - indexed for MEDLINE]
12.

Identification of critical regions for clinical features of distal 10q deletion syndrome.

Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW.

Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22.

PMID:
19558528
[PubMed - indexed for MEDLINE]
13.

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Matoso E, Melo JB, Ferreira SI, Jardim A, Castelo TM, Weise A, Carreira IM.

Am J Med Genet A. 2013 Aug;161A(8):1923-8. doi: 10.1002/ajmg.a.36032. Epub 2013 Jul 4.

PMID:
23824631
[PubMed - indexed for MEDLINE]
14.

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.

Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199. Epub 2009 Nov 11.

PMID:
19904302
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ.

J Med Genet. 2011 May;48(5):290-8. doi: 10.1136/jmg.2010.084491. Epub 2011 Feb 22.

PMID:
21343628
[PubMed - indexed for MEDLINE]
16.

Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies.

Xiao B, Ji X, Xing Y, Jiang WT, Zhang JM, Tao J.

Mol Syndromol. 2012 Oct;3(4):185-9. doi: 10.1159/000343047. Epub 2012 Sep 27.

PMID:
23239961
[PubMed]
Free PMC Article
17.

Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.

Fisch GS, Davis R, Youngblom J, Gregg J.

Behav Genet. 2011 May;41(3):373-80. doi: 10.1007/s10519-011-9447-4. Epub 2011 Jan 23.

PMID:
21259039
[PubMed - indexed for MEDLINE]
18.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.

J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17.

PMID:
22180641
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.

Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.

PMID:
19000322
[PubMed]
Free PMC Article

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