Results 1 to 10 of about 10,016,032 (374)
Primary hypertrophic osteoarthropathy: genetics, clinical features and management. [PDF]
Front Endocrinol (Lausanne), 2023 Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Lu Q, Xu Y, Zhang Z, Li S, Zhang Z.
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Treacher Collins Syndrome: Genetics, Clinical Features and Management. [PDF]
Genes (Basel), 2021 Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development.
Marszałek-Kruk BA +3 more
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Clinical genetics of melanoma [PDF]
Hereditary Cancer in Clinical Practice, 2012 Malignant melanoma (MM) represents one of the most aggressive neoplasms and its frequency is increasing rapidly. Increased melanoma risk among relatives of MM patients and familial aggregations of this malignancy point at genetic predisposition as an important factor of MM pathogenesis. The genetic basis of MM is complex and appears to involve multiple
Dębniak T
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Singapore Medical Journal, 2023 With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
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Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. [PDF]
J Endocrinol Invest, 2017 Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that ...
Bonomi M +6 more
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The Application of Clinical Genetics
The Application of Clinical Genetics, 2012 Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
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The Clinical Genetics of Prostate Cancer [PDF]
Hereditary Cancer in Clinical Practice, 2004 Prostate cancer is the most common cancer in men and the second highest cause of cancer-related mortality in the U.K. A genetic component in predisposition to prostate cancer has been recognized for decades.
Kommu Sashi +2 more
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Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. [PDF]
Mol Genet Metab, 2019 Balwani M.
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Wilms tumor (nephroblastoma) – clinical and genetic aspects
Nowotwory, 2022 Nephroblastoma (Wilms tumor – WT) is the most common kidney tumor among the pediatric population, fifth among malignant neoplasms and third among solid tumors. The most common type of WT is sporadic and unilateral.
Małgorzata Janeczko-Czarnecka +3 more
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