Results 71 to 80 of about 264 (130)

Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

Turkish Journal of Hematology, 2015
Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in ...
Özlem Tüfekçi, Hale Ören, Fatma Demir Yenigürbüz, Salih Gözmen, Tuba Hilkay Karapınar, Gülersu İrken   +5 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients

Journal of Hematology & Oncology
Background Deletions and partial losses of chromosome 7 (chr7) are frequent in acute myeloid leukemia (AML) and are linked to dismal outcome. However, the genomic landscape and prognostic impact of concomitant genetic aberrations remain incompletely ...
Adriane Halik, Marlon Tilgner, Patricia Silva, Natalia Estrada, Robert Altwasser, Ekaterina Jahn, Michael Heuser, Hsin-An Hou, Marta Pratcorona, Robert K. Hills, Klaus H. Metzeler, Laurene Fenwarth, Anna Dolnik, Christine Terre, Klara Kopp, Olga Blau, Martin Szyska, Friederike Christen, Jan Krönke, Loïc Vasseur, Bob Löwenberg, Jordi Esteve, Peter J. M. Valk, Matthieu Duchmann, Wen-Chien Chou, David C. Linch, Hartmut Döhner, Rosemary E. Gale, Konstanze Döhner, Lars Bullinger, Kenichi Yoshida, Frederik Damm   +31 more
doaj   +1 more source

Histiocytic Sarcoma Associated with Coombs Negative Acute Hemolytic Anemia: A Rare Presentation

Case Reports in Oncological Medicine, 2016
Histiocytic sarcoma (HS) rarely involves extranodal sites, such as the spleen. We report a unique pediatric case of massive splenomegaly and refractory Coombs negative hemolytic anemia (CNHA) secondary to HS.
Sandeep Batra, Stephen C. Martin, Mehdi Nassiri, Amna Qureshi, Troy A. Markel   +4 more
doaj   +1 more source

Effect of RAS Pathway Gene Mutations on Survival in Myelodysplastic Syndrome: A Systematic Review and Meta-Analysis

Cancer Control
Introduction Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenia, and risk of progression to acute myeloid leukemia.
Yasmin Eslalakawi, Mohamed Omar Saad, Amin S Sanosi, Rowan Mesilhy, Abdulrahman F Al-Mashdali, Nabil E. Omar, Ahmed O Saleh, Elmustafa Abdalla, Amal Elfatih, Shehab F Mohamed   +9 more
doaj   +1 more source

Tegumentary manifestations of Noonan and Noonan-related syndromes

Clinics, 2013
OBJECTIVES: Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement.
Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, Alexandre C. Pereira, Alexander A. L. Jorge, Alexsandra C. Malaquias, Chong Ae Kim, Debora Romeo Bertola   +7 more
doaj   +1 more source

Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice

Disease Models & Mechanisms, 2013
SUMMARY In mice, induced global disruption of the Ptpn11 gene, which encodes the SHP-2 tyrosine phosphatase, results in severe skeletal abnormalities.
Philip E. Lapinski, Melissa F. Meyer, Gen-Sheng Feng, Nobuhiro Kamiya, Philip D. King   +4 more
doaj   +1 more source

Next-generation sequencing reveals relapse and leukemia-free survival risks in newly diagnosed acute myeloid leukemia treated with CAG regimen combined with decitabine

Cancer Pathogenesis and Therapy
Background: Acute myeloid leukemia (AML) is a heterogeneous hematopoietic malignancy whose prognosis is associated with several biomarkers. Decitabine, a deoxyribonucleic acid (DNA) methyltransferase (DNMT) inhibitor, combined with cytarabine ...
Sai Huang, Peng Chen, Lu Wang, Lingmin Xu, Nan Wang, Fei Li, Liping Dou, Daihong Liu   +7 more
doaj   +1 more source

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

PLoS Genetics, 2010
Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined.
Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein   +15 more
doaj   +1 more source