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Results: 1 to 20 of 154

Similar articles for PubMed (Select 18627049)

1.

A new case of proximal monosomy 1p36, extending the phenotype.

Rudnik-Schöneborn S, Zerres K, Häusler M, Lott A, Krings T, Schüler HM.

Am J Med Genet A. 2008 Aug 1;146A(15):2018-22. doi: 10.1002/ajmg.a.32405. No abstract available.

PMID:
18627049
2.

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
3.

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
4.

Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1).

Torisu H, Yamamoto T, Fujiwaki T, Kadota M, Oshimura M, Kurosawa K, Akaboshi S, Oka A.

Am J Med Genet A. 2004 Nov 15;131(1):94-8.

PMID:
15384094
5.

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
6.
7.

Left-ventricular non-compaction in a patient with monosomy 1p36.

Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K.

Eur J Med Genet. 2007 May-Jun;50(3):233-6. Epub 2007 Jan 27.

PMID:
17337261
8.

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

Redon R, Rio M, Gregory SG, Cooper RA, Fiegler H, Sanlaville D, Banerjee R, Scott C, Carr P, Langford C, Cormier-Daire V, Munnich A, Carter NP, Colleaux L.

J Med Genet. 2005 Feb;42(2):166-71. No abstract available.

9.

6q1 monosomy: a distinctive syndrome.

Turleau C, Demay G, Cabanis MO, Lenoir G, de Grouchy J.

Clin Genet. 1988 Jul;34(1):38-42.

PMID:
3409537
10.

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.

Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel HM, Schaller A, Gallati S, Conrad B.

Am J Med Genet A. 2011 Aug;155A(8):1964-8. doi: 10.1002/ajmg.a.33210. Epub 2011 Jul 7.

PMID:
21739569
11.

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG.

Am J Hum Genet. 2003 May;72(5):1200-12. Epub 2003 Apr 8.

12.

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
13.

Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT.

Am J Med Genet A. 2008 Jun 15;146A(12):1571-4. doi: 10.1002/ajmg.a.32096.

PMID:
18470891
14.

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
15.

10qter deletion: a new case.

Piccione M, Antona V, Piro E, Cavani S, Malacarne M, Pierluigi M, Corsello G.

Am J Med Genet A. 2008 Sep 15;146A(18):2435-8. doi: 10.1002/ajmg.a.32467. No abstract available.

PMID:
18698621
16.

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y.

Am J Med Genet A. 2008 Nov 15;146A(22):2891-7. doi: 10.1002/ajmg.a.32556.

PMID:
18925681
18.

Partial monosomy 10p syndrome.

Koenig R, Kessel E, Schoenberger W.

Ann Genet. 1985;28(3):173-6.

PMID:
3879152
19.

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, Savarirayan R.

Am J Med Genet A. 2005 Dec 15;139(3):216-20.

PMID:
16278903
20.

Toriello-Carey syndrome phenotype and chromosome anomalies.

Toriello HV, Hatchwell E.

Am J Med Genet A. 2008 Jan 1;146A(1):116. No abstract available.

PMID:
18074373
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