Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 464

1.

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA.

Clin Genet. 2007 Oct;72(4):329-38.

PMID:
17850629
2.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
3.

Monosomy 1p36 deletion syndrome.

Gajecka M, Mackay KL, Shaffer LG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. Review.

PMID:
17918734
4.

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.

5.

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
6.

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
7.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK.

J Med Genet. 1999 Sep;36(9):657-63. Review.

8.

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Bursztejn AC, Bronner M, Peudenier S, Grégoire MJ, Jonveaux P, Nemos C.

Am J Med Genet A. 2009 Nov;149A(11):2493-500. doi: 10.1002/ajmg.a.33051.

PMID:
19842196
9.

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.

Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. Epub 2006 Mar 10.

PMID:
16564757
10.

An emerging phenotype of proximal 11q deletions.

Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G.

Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3.

PMID:
20688202
11.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
12.

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F.

Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447.

PMID:
18629884
13.

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG.

Hum Mol Genet. 2003 Sep 1;12(17):2153-65. Epub 2003 Jul 15.

PMID:
12915474
14.

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.

Am J Med Genet A. 2006 Jun 1;140(11):1156-63.

PMID:
16688748
15.
16.
17.

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG.

Hum Mol Genet. 2003 Sep 1;12(17):2145-52. Epub 2003 Jul 15.

PMID:
12915473
18.

Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).

Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.

Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):132-5. doi: 10.1002/bdra.20633.

PMID:
19813260
19.

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
20.

Supplemental Content

Support Center