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Results: 1 to 20 of 29

1.

Multiple causes of apnea in 1p36 deletion syndrome include seizures.

Kanabar G, Boyd S, Schugal A, Bhate S.

Seizure. 2012 Jun;21(5):402-6. doi: 10.1016/j.seizure.2012.02.004. Epub 2012 Mar 16.

PMID:
22425009
[PubMed - indexed for MEDLINE]
Free Article
2.

Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.

Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M.

Pediatr Neurol. 2011 Oct;45(4):274-8. doi: 10.1016/j.pediatrneurol.2011.06.002.

PMID:
21907895
[PubMed - indexed for MEDLINE]
3.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB.

Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22.

PMID:
21694734
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A case of 1p36 deletion syndrome accompanied with anomalous arrangement of the pancreaticobiliary duct.

Kawashima H, Kinjo N, Uejima H, Ioi H, Takekuma K, Nagae I, Ishii K, Itoi T, Numabe H.

Pancreas. 2011 Jan;40(1):171-3. doi: 10.1097/MPA.0b013e3181df1ca9. No abstract available.

PMID:
21160384
[PubMed - indexed for MEDLINE]
5.

Severe lysosomal storage disease of liver in del(1)(p36): a new presentation.

Haimi M, Iancu TC, Shaffer LG, Lerner A.

Eur J Med Genet. 2011 May-Jun;54(3):209-13. doi: 10.1016/j.ejmg.2010.11.012. Epub 2010 Dec 9.

PMID:
21145995
[PubMed - indexed for MEDLINE]
6.

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG.

Am J Med Genet A. 2010 Dec;152A(12):3074-83. doi: 10.1002/ajmg.a.33733.

PMID:
21108392
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.

Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293.

PMID:
18536050
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A.

Epilepsia. 2008 Mar;49(3):509-15. Epub 2007 Nov 21.

PMID:
18031548
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Pemphigus vulgaris in a patient with 1p36 deletion syndrome.

Halpern AV, Bansal A, Heymann WR.

J Am Acad Dermatol. 2006 Nov;55(5 Suppl):S98-9. No abstract available.

PMID:
17052548
[PubMed - indexed for MEDLINE]
12.

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.

Neal J, Apse K, Sahin M, Walsh CA, Sheen VL.

Am J Med Genet A. 2006 Aug 1;140(15):1692-5. No abstract available.

PMID:
16835933
[PubMed - indexed for MEDLINE]
13.

Visual search improvement in hemianopic patients after audio-visual stimulation.

Bolognini N, Rasi F, Coccia M, Làdavas E.

Brain. 2005 Dec;128(Pt 12):2830-42. Epub 2005 Oct 11.

PMID:
16219672
[PubMed - indexed for MEDLINE]
Free Article
14.

Del 1p36 syndrome: a newly emerging clinical entity.

Battaglia A.

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

PMID:
16023552
[PubMed - indexed for MEDLINE]
15.

1p36 deletion syndrome with intestinal malrotation and annular pancreas.

Minami K, Boshi H, Minami T, Tamura A, Yanagawa T, Uemura S, Takifuji K, Kurosawa K, Tsukino R, Izumi G, Yoshikawa N.

Eur J Pediatr. 2005 Mar;164(3):193-4. Epub 2004 Nov 17. No abstract available.

PMID:
15717182
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
15689456
[PubMed - indexed for MEDLINE]
Free PMC Article
17.
18.

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.

Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG.

Clin Genet. 2003 Oct;64(4):310-6.

PMID:
12974736
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
12687501
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.

Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N.

J Hum Genet. 2002;47(10):556-9.

PMID:
12376748
[PubMed - indexed for MEDLINE]
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