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39627 search results for:

Molecular Genetics 

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  1. Open Access 01-12-2022 | Glucocorticoid | ReviewPaper

    Apparent mineralocorticoid excess: comprehensive overview of molecular genetics

    Apparent mineralocorticoid excess is an autosomal recessive form of monogenic disease characterized by juvenile resistant low-renin hypertension, marked hypokalemic alkalosis, low aldosterone levels, and high ratios of cortisol to cortisone …

  2. 03-02-2023 | Acute Myeloid Leukemia | OriginalPaper

    Molecular genetics and management of world health organization defined atypical chronic myeloid leukemia

    Atypical chronic myeloid leukemia (CML) is a rare BCR::ABL1-negative hematopoietic stem cell disease characterized by granulocytic proliferation and granulocytic dysplasia. Due to both the challenging diagnosis and the rarity of atypical CML …

  3. 01-04-2019 | Astrocytoma | OriginalPaper

    Molecular genetics and therapeutic targets of pediatric low-grade gliomas

    Pediatric low-grade gliomas (PLGGs) have relatively favorable prognosis and some resectable PLGGs, such as cerebellar pilocytic astrocytoma, can be cured by surgery alone. However, many PLGG cases are unresectable and some of them undergo tumor …

  4. 01-01-2022 | Lymphoma | OriginalPaper

    Characterization of molecular genetics and clinicopathology in thymic MALT lymphoma

    Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) lymphoma is a type of low-grade malignant B-cell lymphoma. The aim of this study was to investigate the clinicopathological characteristics of thymic MALT …

  5. Open Access 01-12-2021 | Intellectual Disability | ReviewPaper

    Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders

    Neurodevelopmental disorders (NDDs) encompass a wide range of cognitive, behavioral, motoric, and adaptive symptoms including autism spectrum disorder (ASD), intellectual disability (ID), and related symptoms. ASD is one of the common NDDs that …

  6. 01-06-2020 | Colorectal Cancer | ReviewPaper

    Molecular Genetics and the Role of Molecularly Targeted Agents in Metastatic Colorectal Carcinoma

    CRC is one of the leading causes of mortality and morbidity in the world. It is the third most common malignancy and fourth leading cancer-related deaths worldwide [ 1 ]. There were 1.65 million cases of CRC and almost 835,000 deaths in 2015 [ 2 ].

  7. 01-12-2019 | Intracranial Aneurysm | ReviewPaper

    Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms

    Intracranial aneurysms (IA) are local dilatations in cerebral arteries that predominantly affect the circle of Willis. Occurring in approximately 2–5% of adults, these weakened areas are susceptible to rupture, leading to subarachnoid hemorrhage …

  8. Open Access 01-12-2022 | Aortic Aneurysm | OriginalPaper

    Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

    There is a growing interest in better recognition of genetic factors leading to thoracic aortic aneurysms and dissections (TAAD) [ 1 , 2 ]. Diagnosis of TAAD leads to important clinical decisions. Although aortic size remains the main criterion for …

  9. 01-07-2020 | Glibenclamide | OriginalPaper

    Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China

    Neonatal diabetes mellitus (NDM) is a heterogeneous monogenic hereditary disease, which is categorized by phenotypic characteristics into transient neonatal diabetes mellitus (TNDM), permanent neonatal diabetes mellitus (PNDM), and NDM with …

  10. 01-06-2020 | Glioblastoma | OriginalPaper

    TSPO PET, tumour grading and molecular genetics in histologically verified glioma: a correlative 18F-GE-180 PET study

    The diagnostic gold standard for high-grade glioma (HGG) imaging is represented by magnetic resonance imaging (MRI) with contrast enhancement indicating blood-brain barrier (BBB) breakdown on MRI [ 1 ]. Besides MRI, positron emission tomography …

  11. 01-03-2020 | Multiple Myeloma | ReviewPaper

    A review on tumor heterogeneity and evolution in multiple myeloma: pathological, radiological, molecular genetics, and clinical integration

    Recent research has dramatically advanced our understanding of the genetic basis of multiple myeloma (MM). MM displays enormous inter- and intratumoral heterogeneity, and underlies a clonal evolutionary process driven and shaped by diverse factors …

  12. 01-09-2019 | Craniosynostosis | ReviewPaper

    Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology

    Pfeiffer syndrome, also known as acrocephalosyndactyly, most commonly involves craniosynostosis (mostly coronal), midfacial hypoplasia, broad thumbs and great toes, brachydactyly, and variable soft tissue syndactyly [ 4 , 7 , 9 , 23 ]. The …

  13. 01-11-2019 | Achondroplasia | ReviewPaper

    A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics

    This article simplifies the radiologic diagnosis of skeletal dysplasia by first presenting an ordered approach for analysis of standard radiographs done for skeletal dysplasias. With that foundation, a more detailed discussion of three separate …

  14. 01-06-2021 | Ovarian Cancer | ReviewPaper

    Current update on the molecular genetics and management of hereditary ovarian cancers: a primer for radiologists

    More than one-fifth of ovarian cancers are hereditary, with most of them caused by BRCA genes. Malignant ovarian neoplasms are primarily epithelial tumors, a heterogeneous group of tumors with variable genetic backgrounds that translate into …

  15. 01-07-2006 | OriginalPaper

    Molecular genetics of addiction vulnerability

    Classical genetic studies document strong complex genetic contributions to abuse of multiple addictive substances. to mnemonic processes that are likely to include those involved in substance dependence, and to the volumes of brain gray matter in …

  16. 01-06-2015 | ReviewPaper

    Biomarkers for Psychosis: the Molecular Genetics of Psychosis

    Substantial progress has been made in understanding the genetic architecture of psychosis but also in identifying a subset of the contributory risk genes. At a molecular level, there is significant overlap between major psychotic disorders (e.g. …

  17. 01-07-2009 | ReviewPaper

    Molecular epigenetics and genetics in neuro-oncology

    Gliomas arise through genetic and epigenetic alterations of normal brain cells, although the exact cell of origin for each glioma subtype is unknown. The alteration-induced changes in gene expression and protein function allow uncontrolled cell …

  18. 01-04-2005 | ReviewPaper

    21-hydroxylase deficiency: From molecular genetics to clinical presentation

    Congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase (21-OH), a cytochrome P450 enzyme located in the endoplasmic reticulum and which catalyzes the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progestene to …

  19. 01-01-2020 | osteosarcoma | ReviewPaper

    What is new about the molecular genetics in matrix-producing soft tissue tumors? -The contributions to pathogenetic understanding and diagnostic classification

    Soft tissue tumors encompass a wide variety of mesenchymal neoplasms exhibiting diverse clinical, pathologic, and molecular features. Among these, osteoid and/or chondroid matrix deposition in some soft tissue tumors represents a noticeable …

  20. 01-02-2019 | OriginalPaper

    Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population

    In 46,XY subjects with 5-α reductase type 2 deficiency, the development of external genitalia is usually abnormal [ 1 , 2 ]. The severity of this condition varies from small phallus and hypospadias to completely female looking genitalia [ 3 ]. 5-α …

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