Results 81 to 90 of about 264 (130)

Noonan Syndrome in South Africa: Clinical and Molecular Profiles

Frontiers in Genetics, 2019
Noonan Syndrome (NS) is a common autosomal dominant multisystem disorder, caused by mutations in more than 10 genes in the Ras/MAPK signaling pathway. Differential mutation frequencies are observed across populations.
Cedrik Tekendo-Ngongang, Gloudi Agenbag, Christian Domilongo Bope, Christian Domilongo Bope, Alina Izabela Esterhuizen, Alina Izabela Esterhuizen, Ambroise Wonkam, Ambroise Wonkam   +7 more
doaj   +1 more source

Predictors of Relapse and Post‐Relapse Outcomes After Frontline Blinatumomab in Philadelphia Chromosome‐Negative B‐ALL

American Journal of Hematology, Volume 101, Issue 8, Page 2038-2043, August 2026.
Sankalp Arora, Hagop Kantarjian, Koji Sasaki, Nitin Jain, Zhouxuan Li, Wei Qiao, Sanam Loghavi, Guilin Tang, Caitlin Rausch, Farhad Ravandi, Fadi G. Haddad, Jayastu Senapati, Guillermo Montalban Bravo, Alexandre Bazinet, Rita Khouri, Rebecca Garris, Guillermo Garcia‐Manero, Nicholas J. Short, Elias Jabbour   +18 more
wiley   +1 more source

P081 | EVALUATION OF PTPN11 MUTATION SUBTYPES AND THEIR POTENTIAL IMPACT ON CLINICAL OUTCOMES: A SINGLE-CENTER EXPERIENCE.

Haematologica
Background: PTPN11mutations can be found in 1.5%–12% of AML cases. They have been reported to cluster mainly in the N-terminal Src homology region 2 (N-SH2) and phosphatase (PTP) domains.
F. Crupi, G. Ciolli, M. Piccini, B. Scappini, L. Fasano, E. Quinti, A. Pasquini, J. Caroprese, N. Bartalucci, A. Enderti, C. Maccari, G. Rotunno, L. Signori, P. Guglielmelli, A.M. Vannucchi, F. Mannelli   +15 more
doaj  

COVID-19 related mucormycosis and hemophagocytic lymphohistiocytosis in a child with juvenile myelomonocytic leukemia

Trends in Pediatrics
Juvenile myelomonocytic leukemia (JMML) is a childhood hematological cancer that often results from mutations in the PTPN11 gene. This study aims to report an original proband with JMML, COVID-19, HLH, and mucormycosis phenotypes.
Kübra Aslan, Hatice Beyza Akkan, Fırat Özçelik, Kerem Kökoğlu, Alper Özcan, Can Acıpayam, Ayşenur Paç Kısaarslan, Benhur Şirvan Çetin, Özlem Canöz, Munis Dündar, Halit Canatan, Ekrem Ünal   +11 more
doaj   +1 more source

Mutations of PTPN11 are rare in adult myeloid malignancies.

Haematologica, 2006
The PTPN11 gene encodes the phospho-tyrosyine phosphatase protein SHP-2. Constitutional mutations of this gene are involved in Noonan's syndrome, a developmental disorder in which children have a predisposition to develop a myeloid disorder called juvenile myelomonocytic leukemia.
Leroy, Hugues, Hélène, Cavé, Nathalie, Philippe, Sabrina, Pereira, Pierre, Fenaux, Claude, Preudhomme   +5 more
openaire   +1 more source

Activating PTPN11 Mutation [PDF]

, 2020
openaire   +1 more source

PTPN11 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Oncogenic PTPN11 Mutations are Rare in Solid Tumors

Pathology & Oncology Research, 2014
Eun Mi, Je, Youn Jin, Choi, Nam Jin, Yoo, Sug Hyung, Lee   +3 more
openaire   +2 more sources

PTPN11 mutation: Orthopedic outcomes in metachondromatosis

International Journal of Case Reports in Orthopaedics
Camille Rabhi, Valancy Miranda, Mathilde Hupin, Constantin Stanciu, Philippe M Campeau   +4 more
openaire   +1 more source

Heterozygous Mutation of Noonan Syndrome in PTPN11 Genes

Journal of Dr Behcet Uz Children s Hospital, 2017
openaire   +1 more source