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Results: 1 to 20 of 320

1.

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.

López-Espíndola D, Morales-Bastos C, Grijota-Martínez C, Liao XH, Lev D, Sugo E, Verge CF, Refetoff S, Bernal J, Guadaño-Ferraz A.

J Clin Endocrinol Metab. 2014 Sep 15:jc20142162. [Epub ahead of print]

PMID:
25222753
[PubMed - as supplied by publisher]
2.

Costeff syndrome: clinical features and natural history.

Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S.

J Neurol. 2014 Sep 9. [Epub ahead of print]

PMID:
25201222
[PubMed - as supplied by publisher]
3.

MicroRNA-182 drives metastasis of primary sarcomas by targeting multiple genes.

Sachdeva M, Mito JK, Lee CL, Zhang M, Li Z, Dodd RD, Cason D, Luo L, Ma Y, Van Mater D, Gladdy R, Lev DC, Cardona DM, Kirsch DG.

J Clin Invest. 2014 Sep 2. pii: 77116. doi: 10.1172/JCI77116. [Epub ahead of print]

PMID:
25180607
[PubMed - as supplied by publisher]
4.

Central 22q11.2 deletions.

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Aug 14. doi: 10.1002/ajmg.a.36711. [Epub ahead of print]

PMID:
25123976
[PubMed - as supplied by publisher]
5.

Neuropsychological follow-up at school age of children with asymmetric ventricles or unilateral ventriculomegaly identified in utero.

Atad-Rapoport M, Schweiger A, Lev D, Sadan-Strul S, Malinger G, Lerman-Sagie T.

BJOG. 2014 Jul 16. doi: 10.1111/1471-0528.12976. [Epub ahead of print]

PMID:
25040182
[PubMed - as supplied by publisher]
6.

Pathways mediating the interaction between endothelial progenitor cells (EPCs) and platelets.

Raz O, Lev DL, Battler A, Lev EI.

PLoS One. 2014 Jun 5;9(6):e95156. doi: 10.1371/journal.pone.0095156. eCollection 2014.

PMID:
24901498
[PubMed - in process]
Free PMC Article
7.

Progressive Loss Of Myogenic Differentiation In Leiomyosarcoma Has Prognostic Value.

Demicco EG, Boland GM, Brewer Savannah KJ, Lusby K, Young ED, Ingram D, Watson KL, Bailey M, Guo X, Hornick JL, van de Rijn M, Wang WL, Torres KE, Lev D, Lazar AJ.

Histopathology. 2014 May 30. doi: 10.1111/his.12466. [Epub ahead of print]

PMID:
24889065
[PubMed - as supplied by publisher]
8.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.

Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.

PMID:
24888894
[PubMed - in process]
9.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T.

Eur J Paediatr Neurol. 2014 Sep;18(5):567-71. doi: 10.1016/j.ejpn.2014.04.008. Epub 2014 Apr 18.

PMID:
24814476
[PubMed - in process]
10.

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

Maya I, Vinkler C, Konen O, Kornreich L, Steinberg T, Yeshaya J, Latarowski V, Shohat M, Lev D, Baris HN.

Am J Med Genet A. 2014 Aug;164A(8):1940-6. doi: 10.1002/ajmg.a.36583. Epub 2014 Apr 30.

PMID:
24788350
[PubMed - in process]
11.

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L.

Eur J Paediatr Neurol. 2014 Jul;18(4):495-501. doi: 10.1016/j.ejpn.2014.03.009. Epub 2014 Apr 8.

PMID:
24742911
[PubMed - in process]
12.

Differential expression of cysteine dioxygenase 1 in complex karyotype liposarcomas.

Shaker M, Pascarelli KM, Plantinga MJ, Love MA, Lazar AJ, Ingram DR, von Mehren M, Lev D, Kipling D, Broccoli D.

Biomark Cancer. 2014 Apr 6;6:1-10. doi: 10.4137/BIC.S14683. eCollection 2014.

PMID:
24741338
[PubMed]
Free PMC Article
13.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D.

Eur J Med Genet. 2014 May-Jun;57(6):288-92. doi: 10.1016/j.ejmg.2014.03.010. Epub 2014 Apr 5.

PMID:
24709618
[PubMed - in process]
14.

Locoregional disease patterns in well-differentiated and dedifferentiated retroperitoneal liposarcoma: implications for the extent of resection?

Tseng WW, Madewell JE, Wei W, Somaiah N, Lazar AJ, Ghadimi MP, Hoffman A, Pisters PW, Lev DC, Pollock RE.

Ann Surg Oncol. 2014 Jul;21(7):2136-43. doi: 10.1245/s10434-014-3643-4. Epub 2014 Apr 7.

PMID:
24705628
[PubMed - in process]
15.

The value of ¹⁸F-FDG PET/CT in the management of malignant peripheral nerve sheath tumors.

Khiewvan B, Macapinlac HA, Lev D, McCutcheon IE, Slopis JM, Al Sannaa G, Wei W, Chuang HH.

Eur J Nucl Med Mol Imaging. 2014 Sep;41(9):1756-66. doi: 10.1007/s00259-014-2756-0. Epub 2014 Apr 4.

PMID:
24699907
[PubMed - in process]
16.

Reply to: The many faces of TUBB4A mutations.

Blumkin L, Halevy A, Ben-Ami-Raichman D, Dahari D, Haviv A, Sarit C, Lev D, van der Knaap MS, Lerman-Sagie T, Leshinsky-Silver E.

Neurogenetics. 2014 May;15(2):83. No abstract available.

PMID:
24659298
[PubMed - in process]
17.

Analysis of prognostic factors impacting oncologic outcomes after neoadjuvant tyrosine kinase inhibitor therapy for gastrointestinal stromal tumors.

Bednarski BK, Araujo DM, Yi M, Torres KE, Lazar A, Trent JC, Cormier JN, Pisters PW, Lev DC, Pollock RE, Feig BW, Hunt KK.

Ann Surg Oncol. 2014 Aug;21(8):2499-505. doi: 10.1245/s10434-014-3632-7. Epub 2014 Mar 18.

PMID:
24639192
[PubMed - in process]
18.

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS.

J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27.

PMID:
24577744
[PubMed - in process]
19.

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

Blumkin L, Halevy A, Ben-Ami-Raichman D, Dahari D, Haviv A, Sarit C, Lev D, van der Knaap MS, Lerman-Sagie T, Leshinsky-Silver E.

Neurogenetics. 2014 May;15(2):107-13. doi: 10.1007/s10048-014-0392-2. Epub 2014 Feb 14.

PMID:
24526230
[PubMed - in process]
20.

Novel systemic therapies in advanced liposarcoma: a review of recent clinical trial results.

Tseng WW, Somaiah N, Lazar AJ, Lev DC, Pollock RE.

Cancers (Basel). 2013 May 10;5(2):529-49. doi: 10.3390/cancers5020529.

PMID:
24216990
[PubMed]
Free PMC Article

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