Results 181 to 190 of about 332,173 (306)

To Evaluate Whether Pretreatment CA19‐9 and DUPAN‐2 Levels Can Serve as Predictive Markers to Guide the Choice Between NAT and Upfront Surgery in Pancreatic Cancer

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
NAT‐GS was significantly more effective only in patients with one tumor marker above the reference range, comparing those who achieved 12‐month MRFS with those who did not. ABSTRACT Aim Pancreatic cancer (PC) remains one of the most lethal malignancies, with early recurrence severely affecting prognosis even after curative resection.
Hiromichi Kawaida   +9 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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   +41 more
wiley   +1 more source

Cardiac biomarkers — A short biography

open access: yesClinical Biochemistry, 2015
Paul O. Collinson   +2 more
openaire   +3 more sources

Association between re-elevation of cardiac biomarkers and in-hospital MACE after primary PCI in STEMI patients. [PDF]

open access: yesBMC Cardiovasc Disord
Niu X   +9 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

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