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Items: 1 to 20 of 54

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.

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
3.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK.

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

4.

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
5.

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Tzschach A, Graul-Neumann LM, Konrat K, Richter R, Ebert G, Ullmann R, Neitzel H.

Am J Med Genet A. 2009 Feb;149A(2):242-5. doi: 10.1002/ajmg.a.32637. Review.

PMID:
19161151
6.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
7.

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA.

Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563. Review.

PMID:
19006213
8.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
9.

Del 1p36 syndrome: a newly emerging clinical entity.

Battaglia A.

Brain Dev. 2005 Aug;27(5):358-61. Review.

PMID:
16023552
10.

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Apr 30;126A(3):278-83. Review.

PMID:
15054842
11.

Terminal deletion of 6p results in a recognizable phenotype.

Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L.

Am J Med Genet A. 2005 Jul 15;136(2):162-8. Review.

PMID:
15940702
12.

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review.

Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I.

Am J Med Genet A. 2009 Aug;149A(8):1782-5. doi: 10.1002/ajmg.a.32972. Review.

PMID:
19610110
13.

1p36 Deletion Syndrome.

Battaglia A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Feb 1 [updated 2013 Jun 6].

14.

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Maegawa GH, Poplawski NK, Andresen BS, Olpin SE, Nie G, Clarke JT, Teshima I.

Am J Med Genet A. 2008 Jun 15;146A(12):1581-6. doi: 10.1002/ajmg.a.32255. Review.

PMID:
18478588
15.

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M.

Am J Med Genet A. 2005 Oct 1;138A(2):160-5. Review.

PMID:
16114049
16.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
17.

Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature.

Lee ML, Tsao LY, Wang BT, Lee MH, Chiu IS.

Int J Cardiol. 2004 Sep;96(3):477-80. Review. No abstract available.

PMID:
15301904
18.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Review.

PMID:
22561202
19.

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.

Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Review.

PMID:
18932124
20.

Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.

Rush ET, Stevens JM, Sanger WG, Olney AH.

Am J Med Genet A. 2013 Jul;161A(7):1726-32. doi: 10.1002/ajmg.a.35951. Epub 2013 May 21. Review.

PMID:
23696251

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