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Hereditary Breast Cancer, Genetics, and Fertility Preservation
Purpose of ReviewFertility preservation is an important consideration in patients with hereditary breast cancer. Breast cancer mutation carriers may...
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The various forms of hereditary motor neuron disorders and their historical descriptions
Motor neuron disorders comprise a clinically and pathologically heterogeneous group of neurologic diseases characterized by progressive degeneration...
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Genetics of hereditary forms of primary hyperparathyroidism
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum...
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Prenatal diagnosis of hereditary diffuse gastric cancer: a case report
BackgroundHereditary diffuse gastric cancer(HDGC) is a kind of malignant gastric cancer that is difficult to find in the early stage. However, this...
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Neurological Complications Associated with Hereditary Bleeding Disorders
Purpose of ReviewHereditary bleeding disorders may have a wide variety of clinical presentations ranging from mild mucosal and joint bleeding to...
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Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry
Red blood cell (RBC) membrane disorders represent a significant category of hereditary hemolytic anemia; however, information from Southeast Asia is...
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Hereditary cancer testing in a diverse sample across three breast imaging centers
PurposeUp to 10% of all breast cancers (BC) are attributed to inherited pathogenic variants (PV) in BC susceptibility genes; however, most carriers...
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Metabolic alterations in hereditary and sporadic renal cell carcinoma
Kidney cancer is the seventh leading cause of cancer in the world, and its incidence is on the rise. Renal cell carcinoma (RCC) is the most common...
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Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases
PurposeTo define the spectrum of germline pathogenic variants (PVs) and copy number variant (CNV) in cancer susceptibility genes to the burden of...
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Are lip prints hereditary? A systematic review
Hereditary lip prints have been studied by several researchers. However, the literature shows no consensus among the scientific community regarding...
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Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism
Objective: To analyze the clinical features and gene mutations in four families with hereditary protein C (PC) deficiency and explore their...
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Hereditary angioedema in Spain: medical care and patient journey
BackgroundHereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and...
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Practical Guide to Hereditary Breast and Ovarian Cancer Annual Meeting of the Japanese Organization of Hereditary Breast and Ovarian Cancer 2021
This book shares cutting-edge evidence on Hereditary Breast and Ovarian Cancer (HBOC) treatment, delivering facts on breast cancer, gynecologic...
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Neurological update: hereditary neuropathies
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially...
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Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology
Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people...
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Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region
Hereditary spherocytosis (HS) is a common, hereditary hemolytic anemia (HHA) that is attributed to the disturbance of five erythrocyte membrane...
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Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis
Hereditary hemochromatosis type 4 is an autosomal-dominant inherited disease characterized by a mutation in the SLC40A1 gene encoding ferroportin....
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Recalcitrant Epistaxis: A case report of Hereditary Haemorrhagic Telangiectasia
Hereditary haemorrhagic telangiectasia, also known as Rendu–Osler–Weber disease, is an autosomal dominant disorder of the fibrovascular tissue common...
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Ultrasonographic nerve enlargement in post-transplanted patient with hereditary transthyretin amyloidosis
A 43-year-old male patient with a 7-year history of liver transplantation due to p.Val50Met hereditary transthyretin amyloidosis (ATTRv) persisted...
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Antithrombotic therapy for atrial fibrillation in hereditary hemorrhagic telangiectasia
Antithrombotic therapy reduces stroke risk in patients with atrial fibrillation but at the cost of increased bleeding risk. Patients with hereditary...