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2016 in Familial CancerIF: 1.94
Sara E. Dobbins22
Estimated H-index: 22
(Institute of Cancer Research),
Peter Broderick39
Estimated H-index: 39
(Institute of Cancer Research)
+ 3 AuthorsRichard S. Houlston89
Estimated H-index: 89
(Institute of Cancer Research)
Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of undefined-familial CRC is complex and recent studies have implied additional clinically actionable mutations for CRC in susceptibility genes for other cancers. To clarify the contribution of non-CRC susceptibility genes to undefined-familial CRC we conducted a mutatio...
2 Citations Source Cite
2016 in BMJIF: 23.56
Thomas J. Moore17
Estimated H-index: 17
The faulty INRatio device used in the rivaroxaban ROCKET atrial fibrillation trial1 is particularly important in light of another drawback to this novel oral anticoagulant (NOAC). Rivaroxaban has the shortest terminal half life of the …
3 Citations Source Cite
2015 in BloodIF: 15.13
Kasiani C. Myers20
Estimated H-index: 20
(Cincinnati Children's Hospital Medical Center),
Audrey Anna Bolyard15
Estimated H-index: 15
(University of Washington)
+ 8 AuthorsAkiko Shimamura37
Estimated H-index: 37
(Boston Children's Hospital)
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure syndrome associated with exocrine pancreatic dysfunction and an increased risk of myelodysplasia and leukemia. The majority of individuals with SDS carry biallelic SBDS gene mutations, however a subset of patients remain genetically undefined. The objective of this study was to compare the clinical characteristics of patients with and without SBDS mutations. To address these questions, we conducted a retrospective study of pa...
Kenya Nishioka21
Estimated H-index: 21
(Mayo Clinic),
Mounir Kefi10
Estimated H-index: 10
(Tunis El Manar University)
+ 14 AuthorsF. Hentati41
Estimated H-index: 41
(Tunis El Manar University)
Genetic classification of Parkinson9s disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients with familial PD of unknown aetiology or attributable to distinct genetic forms. Comprehensive neurological examinations were performed in 231 familial PD patients from Tunisia. Analysis was previously performed to screen for mutations in leucine rich repeat kinase 2 ( LRRK2 ), PTEN induced kinase 1 ( PINK1 ) an...
28 Citations Download PDF Cite
2014 in BloodIF: 15.13
Antonio Marino3
Estimated H-index: 3
,
Esther Oliva59
Estimated H-index: 59
+ 3 AuthorsFrancesca Ronco11
Estimated H-index: 11
Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare life-threatening blood disease that is characterized by intravascular hemolytic anemia and thrombosis. It may be primary or secondary to other bone marrow diseases. It results from clonal expansion of a multipotent hematolopoietic stem cell harboring a PIG-A mutation. The PIG-A gene product is required for the biosynthesis of glycophosphatidylinositol anchors, a glycolipid moiety that tethers proteins to lipid bilayer of cell membra...
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2010 in BloodIF: 15.13
Kennichi C. Dowdell12
Estimated H-index: 12
(National Institutes of Health),
Julie E. Niemela25
Estimated H-index: 25
(National Institutes of Health)
+ 9 AuthorsV. Koneti Rao21
Estimated H-index: 21
(National Institutes of Health)
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), whereas some cases have been noted to have a somatic mutation of FAS primarily in their DNT cells. We sought to determine the proportion of patients with somatic FAS mutations among a gr...
62 Citations Source Cite
2016 in JCI insight
Stephanie R. Harrison1
Estimated H-index: 1
,
Dennis McGonagle68
Estimated H-index: 68
+ 4 AuthorsSinisa Savic17
Estimated H-index: 17
BACKGROUND. Some adult patients presenting with unexplained pyrexia, serositis, skin rashes, arthralgia, myalgia, and other symptoms commonly found in autoinflammatory disorders may not fit a specific diagnosis, either because their clinical phenotype is nondiagnostic or genetic tests are negative. We used the term undifferentiated systemic autoinflammatory disorder (uSAID) to describe such cases. Given that well-defined autoinflammatory diseases show responses to IL-1 blockade, we evaluated whe...
14 Citations Source Cite
Nikhil Wagle28
Estimated H-index: 28
(Harvard University),
Brian C. Grabiner6
Estimated H-index: 6
+ 17 AuthorsJochen H. Lorch21
Estimated H-index: 21
Everolimus, an inhibitor of the mammalian target of rapamycin (mTOR), is effective in treating tumors harboring alterations in the mTOR pathway. Mechanisms of resistance to everolimus remain undefined. Resistance developed in a patient with metastatic anaplastic thyroid carcinoma after an extraordinary 18-month response. Whole-exome sequencing of pretreatment and drug-resistant tumors revealed a nonsense mutation in TSC2, a negative regulator of mTOR, suggesting a mechanism for exquisite ...
145 Citations Download PDF Cite
2016 in BloodIF: 15.13
Nicholas J. Short10
Estimated H-index: 10
(University of Texas MD Anderson Cancer Center),
Elias Jabbour53
Estimated H-index: 53
(University of Texas MD Anderson Cancer Center)
+ 10 AuthorsFarhad Ravandi69
Estimated H-index: 69
(University of Texas MD Anderson Cancer Center)
The impact of achieving complete molecular response (CMR) in Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) remains undefined. We evaluated the impact of CMR on outcomes among 85 patients with Ph+ ALL who received first-line hyperfractionated cyclophosphamide, vincristine
40 Citations Source Cite
2014 in BloodIF: 15.13
Marco Mancini28
Estimated H-index: 28
(Sapienza University of Rome),
Teresa Ceglie1
Estimated H-index: 1
(Sapienza University of Rome)
+ 17 AuthorsRobin Foà57
Estimated H-index: 57
(Sapienza University of Rome)
Conventional cytogenetics and molecular analyses allow to stratify acute myeloid leukemia (AML) patients into subgroups with different clinical and prognostic relevance. AMLs with unsuccessful cytogenetics and no known recurrent mutations are a subgroup of cases for which information on possible underlying genetic lesions of the leukemic cells is lacking and with a poorly defined outcome. Previous studies have quantified the rate of unsuccessful karyotyping in approximately 10% of the analyzed A...