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Items: 1 to 20 of 2172

1.

The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer.

Costigan DC, Dong F.

Genes Chromosomes Cancer. 2019 Oct 7. doi: 10.1002/gcc.22813. [Epub ahead of print]

PMID:
31589789
2.

Catalytic dysregulation of SHP2 leading to Noonan syndromes impacts on platelet signaling and functions.

Bellio M, Garcia C, Edouard T, Voisin S, Neel BG, Cabou C, Valet P, Mori J, Mazharian A, Senis YA, Yart A, Payrastre B, Severin S.

Blood. 2019 Sep 27. pii: blood.2019001543. doi: 10.1182/blood.2019001543. [Epub ahead of print]

PMID:
31562133
3.

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Chinton J, Huckstadt V, Moresco A, Gravina LP, Obregon MG.

Arch Argent Pediatr. 2019 Oct 1;117(5):330-337. doi: 10.5546/aap.2019.eng.330. English, Spanish.

4.

BRAF Mutations Classes I, II, and III in NSCLC Patients Included in the SLLIP Trial: The Need for a New Pre-Clinical Treatment Rationale.

Bracht JWP, Karachaliou N, Bivona T, Lanman RB, Faull I, Nagy RJ, Drozdowskyj A, Berenguer J, Fernandez-Bruno M, Molina-Vila MA, Rosell R.

Cancers (Basel). 2019 Sep 17;11(9). pii: E1381. doi: 10.3390/cancers11091381.

5.

LZTR1: Genotype Expansion in Noonan Syndrome.

Güemes M, Martín-Rivada Á, Ortiz-Cabrera NV, Martos-Moreno GÁ, Pozo-Román J, Argente J.

Horm Res Paediatr. 2019 Sep 18:1-7. doi: 10.1159/000502741. [Epub ahead of print]

PMID:
31533111
7.

Small-Molecule and CRISPR Screening Converge to Reveal Receptor Tyrosine Kinase Dependencies in Pediatric Rhabdoid Tumors.

Oberlick EM, Rees MG, Seashore-Ludlow B, Vazquez F, Nelson GM, Dharia NV, Weir BA, Tsherniak A, Ghandi M, Krill-Burger JM, Meyers RM, Wang X, Montgomery P, Root DE, Bieber JM, Radko S, Cheah JH, Hon CS, Shamji AF, Clemons PA, Park PJ, Dyer MA, Golub TR, Stegmaier K, Hahn WC, Stewart EA, Schreiber SL, Roberts CWM.

Cell Rep. 2019 Aug 27;28(9):2331-2344.e8. doi: 10.1016/j.celrep.2019.07.021.

8.

[PTPN11 and the deafness].

Xu HY, Yuan YY, Dai P.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):830-834. doi: 10.13201/j.issn.1001-1781.2019.09.008. Review. Chinese.

PMID:
31446698
9.

[Case report and diagnosis of Noonan syndrome with multiple lentigines with deafness as its main clinical feature].

Huang SS, Huang BQ, Gao X, Yuan YY, Su Y, Wang GJ, Kang DY, Dai P.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):804-807. doi: 10.13201/j.issn.1001-1781.2019.09.003. Chinese.

PMID:
31446693
10.

Cancer Panel Assay for Precision Oncology Clinic: Results from a 1-Year Study.

Kwon D, Kim B, Shin HC, Kim EJ, Ha SY, Jang KT, Kim ST, Lee J, Kang WK, Park JO, Kim KM.

Transl Oncol. 2019 Aug 20;12(11):1488-1495. doi: 10.1016/j.tranon.2019.07.017. [Epub ahead of print]

11.

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.

Egan C, Nicolae A, Lack J, Chung HJ, Skarshaug S, Pham TA, Navarro W, Abdullaev Z, Aguilera NS, Xi L, Pack S, Pittaluga S, Jaffe ES, Raffeld M.

Haematologica. 2019 Aug 22. pii: haematol.2019.230375. doi: 10.3324/haematol.2019.230375. [Epub ahead of print]

12.

Genome-wide association scan for QTL and their positional candidate genes associated with internal organ traits in chickens.

Moreira GCM, Salvian M, Boschiero C, Cesar ASM, Reecy JM, Godoy TF, Ledur MC, Garrick D, Mourão GB, Coutinho LL.

BMC Genomics. 2019 Aug 22;20(1):669. doi: 10.1186/s12864-019-6040-3.

13.

Allelic Imbalance of Recurrently Mutated Genes in Acute Myeloid Leukaemia.

Batcha AMN, Bamopoulos SA, Kerbs P, Kumar A, Jurinovic V, Rothenberg-Thurley M, Ksienzyk B, Philippou-Massier J, Krebs S, Blum H, Schneider S, Konstandin N, Bohlander SK, Heckman C, Kontro M, Hiddemann W, Spiekermann K, Braess J, Metzeler KH, Greif PA, Mansmann U, Herold T.

Sci Rep. 2019 Aug 13;9(1):11796. doi: 10.1038/s41598-019-48167-4.

14.

Response to trametinib of histiocytosis with an activating PTPN11 mutation.

Farnault L, Hélias-Rodzewicz Z, Venton G, Fanciullino R, Gabriel S, Mescam L, Haroche J, Donadieu J, Emile JF.

Leuk Lymphoma. 2019 Aug 8:1-4. doi: 10.1080/10428194.2019.1650175. [Epub ahead of print] No abstract available.

PMID:
31393194
15.

Noonan Syndrome.

Allanson JE, Roberts AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 15 [updated 2019 Aug 8].

16.

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F.

Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1.

PMID:
31368652
17.

Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis.

Maher GJ, Goriely A.

Asian J Androl. 2019 Jul 30. doi: 10.4103/aja.aja_79_19. [Epub ahead of print] No abstract available.

18.

Canine histiocytic sarcoma cell lines with SHP2 p.Glu76Gln or p.Glu76Ala mutations are sensitive to allosteric SHP2 inhibitor SHP099.

Tani H, Kurita S, Miyamoto R, Ochiai K, Tamura K, Bonkobara M.

Vet Comp Oncol. 2019 Jul 24. doi: 10.1111/vco.12524. [Epub ahead of print]

PMID:
31339650
19.

Nilotinib interferes with cell cycle, ABC transporters and JAK-STAT signaling pathway in CD34+/lin- cells of patients with chronic phase chronic myeloid leukemia after 12 months of treatment.

Trojani A, Pungolino E, Dal Molin A, Lodola M, Rossi G, D'Adda M, Perego A, Elena C, Turrini M, Borin L, Bucelli C, Malato S, Carraro MC, Spina F, Latargia ML, Artale S, Spedini P, Anghilieri M, Di Camillo B, Baruzzo G, De Canal G, Iurlo A, Morra E, Cairoli R.

PLoS One. 2019 Jul 18;14(7):e0218444. doi: 10.1371/journal.pone.0218444. eCollection 2019.

20.

Gas6 is a reciprocal regulator of mitophagy during mammalian oocyte maturation.

Kim KH, Kim EY, Ko JJ, Lee KA.

Sci Rep. 2019 Jul 17;9(1):10343. doi: 10.1038/s41598-019-46459-3.

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