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Results: 1 to 20 of 107

PubMed Links for Books (Select 1484178)

1.

Exosome transfer from stromal to breast cancer cells regulates therapy resistance pathways.

Boelens MC, Wu TJ, Nabet BY, Xu B, Qiu Y, Yoon T, Azzam DJ, Twyman-Saint Victor C, Wiemann BZ, Ishwaran H, Ter Brugge PJ, Jonkers J, Slingerland J, Minn AJ.

Cell. 2014 Oct 23;159(3):499-513. doi: 10.1016/j.cell.2014.09.051.

PMID:
25417103
2.

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K.

Am J Med Genet A. 2015 Feb;167A(2):271-81. doi: 10.1002/ajmg.a.36863. Epub 2014 Nov 13.

PMID:
25394726
3.

Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer.

Jung JG, Stoeck A, Guan B, Wu RC, Zhu H, Blackshaw S, Shih IeM, Wang TL.

PLoS Genet. 2014 Oct 30;10(10):e1004751. doi: 10.1371/journal.pgen.1004751. eCollection 2014 Oct.

4.

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Bianchi S, Zicari E, Carluccio A, Di Donato I, Pescini F, Nannucci S, Valenti R, Ragno M, Inzitari D, Pantoni L, Federico A, Dotti MT.

J Neurol. 2015 Jan;262(1):134-41. doi: 10.1007/s00415-014-7533-2. Epub 2014 Oct 26.

PMID:
25344745
5.

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.

Moccia M, Mosca L, Erro R, Cervasio M, Allocca R, Vitale C, Leonardi A, Caranci F, Del Basso-De Caro ML, Barone P, Penco S.

Neurobiol Aging. 2015 Jan;36(1):547.e5-11. doi: 10.1016/j.neurobiolaging.2014.08.021. Epub 2014 Aug 27.

PMID:
25260852
6.
7.

Case report: bipolar disorder as the first manifestation of CADASIL.

Park S, Park B, Koh MK, Joo YH.

BMC Psychiatry. 2014 Jun 14;14:175. doi: 10.1186/1471-244X-14-175.

8.
9.

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA.

Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Review.

PMID:
24844136
10.

Dilated perivascular spaces in small-vessel disease: a study in CADASIL.

Yao M, Hervé D, Jouvent E, Duering M, Reyes S, Godin O, Guichard JP, Dichgans M, Chabriat H.

Cerebrovasc Dis. 2014;37(3):155-63. doi: 10.1159/000356982. Epub 2014 Feb 5.

PMID:
24503815
11.

Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.

Cognat E, Baron-Menguy C, Domenga-Denier V, Cleophax S, Fouillade C, Monet-Leprêtre M, Dewerchin M, Joutel A.

Stroke. 2014 Mar;45(3):842-9. doi: 10.1161/STROKEAHA.113.003339. Epub 2014 Jan 14. Erratum in: Stroke. 2014 Mar;45(3):e51.

12.

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Vinciguerra C, Rufa A, Bianchi S, Sperduto A, De Santis M, Malandrini A, Dotti MT, Federico A.

Neurol Sci. 2014 Jan;35(1):91-3. doi: 10.1007/s10072-013-1580-9. Epub 2013 Nov 26.

PMID:
24277202
13.

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA.

Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7.

PMID:
24000151
14.

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.

Morroni M, Marzioni D, Ragno M, Di Bella P, Cartechini E, Pianese L, Lorenzi T, Castellucci M, Scarpelli M.

PLoS One. 2013 Jun 17;8(6):e65482. doi: 10.1371/journal.pone.0065482. Print 2013.

15.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H.

Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.

16.

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.

Monet-Leprêtre M, Haddad I, Baron-Menguy C, Fouillot-Panchal M, Riani M, Domenga-Denier V, Dussaule C, Cognat E, Vinh J, Joutel A.

Brain. 2013 Jun;136(Pt 6):1830-45. doi: 10.1093/brain/awt092. Epub 2013 May 6.

17.

Visual system involvement in CADASIL.

Pretegiani E, Rosini F, Dotti MT, Bianchi S, Federico A, Rufa A.

J Stroke Cerebrovasc Dis. 2013 Nov;22(8):1377-84. doi: 10.1016/j.jstrokecerebrovasdis.2013.03.032. Epub 2013 Apr 28.

PMID:
23635925
18.

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

Soong BW, Liao YC, Tu PH, Tsai PC, Lee IH, Chung CP, Lee YC.

J Chin Med Assoc. 2013 Jun;76(6):319-24. doi: 10.1016/j.jcma.2013.03.002. Epub 2013 Apr 18.

PMID:
23602593
19.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

20.

Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation.

Ragno M, Berbellini A, Cacchiò G, Manca A, Di Marzio F, Pianese L, De Rosa A, Silvestri S, Scarcella M, De Michele G.

Stroke. 2013 Apr;44(4):1147-9. doi: 10.1161/STROKEAHA.111.000458. Epub 2013 Feb 14.

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