Publications:

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Genetic Background of Polycythemia Vera.

Genes

Regimbeau, Mathilde M; Mary, Romain R; Hermetet, François F; Girodon, François F

Publication Date: 2022-04-02

Variant appearance in text: JAK2: D544del

PubMed Link: 35456443

Variant Present in the following documents:

• Main text
• genes-13-00637.pdf

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Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Life (Basel, Switzerland)

Easwar, Arti A; Siddon, Alexa J AJ

Publication Date: 2021-10-30

Variant appearance in text: JAK2: D544del

PubMed Link: 34833034

Variant Present in the following documents:

• Main text
• life-11-01158.pdf

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Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.

International Journal Of Molecular Sciences

Stuckey, Ruth R; Gómez-Casares, María Teresa MT

Publication Date: 2021-05-10

Variant appearance in text: JAK2: D544del

PubMed Link: 34068690

Variant Present in the following documents:

• Main text
• ijms-22-05042.pdf

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A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms.

Cancers

Guijarro-Hernández, Ana A; Vizmanos, José Luis JL

Publication Date: 2021-02-26

Variant appearance in text: JAK2: D544del

PubMed Link: 33652860

Variant Present in the following documents:

• Main text
• cancers-13-00984.pdf

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JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F- MPNs.

Blood Advances

Pastore, Friederike F; Krishnan, Aishwarya A; Hammarén, Henrik M HM; Silvennoinen, Olli O; Yan, Benedict B; Levine, Ross L RL

Publication Date: 2020-09-22

Variant appearance in text: JAK2: D544del

PubMed Link: 32956452

Variant Present in the following documents:

• Main text

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Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Clinical Case Reports

Geay, Antoine A; Aral, Bernard B; Bourgeois, Valentin V; Martin, Pauline P; Airaud, Fabrice F; Garrec, Céline C; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F

Publication Date: 2020-05

Variant appearance in text: JAK2: D544del

PubMed Link: 32477518

Variant Present in the following documents:

• Main text
• CCR3-8-790.pdf

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Recent insights regarding the molecular basis of myeloproliferative neoplasms.

The Korean Journal Of Internal Medicine

Jang, Mi-Ae MA; Choi, Chul Won CW

Publication Date: 2020-01

Variant appearance in text: JAK2: D544del

PubMed Link: 31778606

Variant Present in the following documents:

• Main text
• kjim-2019-317.pdf

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HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.

Cancer Biology & Therapy

Liu, Qiuli Q; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Zhang, Dianzheng D; Zhang, Jun J; Zhang, Yao Y; Huang, Zaoming Z; Li, Yaoming Y; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Jiang, Jun J

Publication Date: 2017-12-02

Variant appearance in text: JAK2: D544del

PubMed Link: 29172931

Variant Present in the following documents:

• Main text
• kcbt-18-12-1394553.pdf

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Molecular Diagnostics with Laboratory Finding in Patients with Myeloproliferative Neoplasms.

Iranian Journal Of Public Health

Makani, Zahra Z; Mirzaahmadi, Sina S; Motallebi, Marzieh M; Movafagh, Abolfazl A

Publication Date: 2017-11

Variant appearance in text: JAK2: D544del

PubMed Link: 29167785

Variant Present in the following documents:

• Main text

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Myeloproliferative neoplasms and the JAK/STAT signaling pathway: an overview.

Revista Brasileira De Hematologia E Hemoterapia

de Freitas, Renata Mendes RM; da Costa Maranduba, Carlos Magno CM

Publication Date: 2015

Variant appearance in text: JAK2: D544del

PubMed Link: 26408371

Variant Present in the following documents:

• Main text
• main.pdf

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Comprehensive review of JAK inhibitors in myeloproliferative neoplasms.

Therapeutic Advances In Hematology

Sonbol, Mohamad Bassam MB; Firwana, Belal B; Zarzour, Ahmad A; Morad, Mohammad M; Rana, Vishal V; Tiu, Ramon V RV

Publication Date: 2013-02

Variant appearance in text: JAK2: D544del

PubMed Link: 23610611

Variant Present in the following documents:

• Main text

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A highly sensitive quantitative real-time PCR assay for determination of mutant JAK2 exon 12 allele burden.

Plos One

Kjær, Lasse L; Westman, Maj M; Hasselbalch Riley, Caroline C; Høgdall, Estrid E; Weis Bjerrum, Ole O; Hasselbalch, Hans H

Publication Date: 2012

Variant appearance in text: JAK2: D544del

PubMed Link: 22403733

Variant Present in the following documents:

• Main text

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Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies.

Oncotarget

Passamonti, Francesco F; Maffioli, Margherita M; Caramazza, Domenica D; Cazzola, Mario M

Publication Date: 2011-06

Variant appearance in text: JAK2: D544del

PubMed Link: 21646683

Variant Present in the following documents:

• Main text
• oncotarget-02-485.pdf

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Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.

The Journal Of Molecular Diagnostics : Jmd

Laughlin, Todd S TS; Moliterno, Alison R AR; Stein, Brady L BL; Rothberg, Paul G PG

Publication Date: 2010-05

Variant appearance in text: JAK2: D544del

PubMed Link: 20203004

Variant Present in the following documents:

• Main text

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Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.

Plos One

Ugo, Valerie V; Tondeur, Sylvie S; Menot, Marie-Laurence ML; Bonnin, Nadine N; Le Gac, Gerald G; Tonetti, Carole C; Mansat-De Mas, Veronique V; Lecucq, Lydie L; Kiladjian, Jean-Jacques JJ; Chomienne, Christine C; Dosquet, Christine C; Parquet, Nathalie N; Darnige, Luc L; Porneuf, Marc M; Escoffre-Barbe, Martine M; Giraudier, Stephane S; Delabesse, Eric E; Cassinat, Bruno B; ,

Publication Date: 2010-01-26

Variant appearance in text: JAK2: D544del

PubMed Link: 20126644

Variant Present in the following documents:

• Main text

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Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

Journal Of Cellular And Molecular Medicine

Tefferi, Ayalew A

Publication Date: 2009-02

Variant appearance in text: JAK2: D544del

PubMed Link: 19175693

Variant Present in the following documents:

• Main text
• jcmm0013-0215.pdf

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