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Page 1
Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives.
Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E Silva AC. Pedrosa AL, et al. Curr Med Chem. 2021;28(27):5602-5624. doi: 10.2174/0929867328666210108113500. Curr Med Chem. 2021. PMID: 33423643 Review.
As a result, the disease manifests in a wide range of conditions, particularly renal, ocular and auricular alterations. Moreover, leiomyomatosis and vascular abnormalities may also be present as atypical presentations. ...
As a result, the disease manifests in a wide range of conditions, particularly renal, ocular and auricular alterations. Moreover, leiomyo …
Variants of Alport's syndrome.
Grünfeld JP, Grateau G, Noel LH, Charbonneau R, Gubler MC, Savage CO, Lockwood CM. Grünfeld JP, et al. Pediatr Nephrol. 1987 Jul;1(3):419-21. doi: 10.1007/BF00849247. Pediatr Nephrol. 1987. PMID: 3153311 Review.
Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) or with esophageal, tracheobronchial and genital leiomyomatosis. Within Alport's syndrome there appears to be no justification for di …
Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) …
Alport-leiomyomatosis syndrome: an update.
García-Torres R, Orozco L. García-Torres R, et al. Am J Kidney Dis. 1993 Nov;22(5):641-8. doi: 10.1016/s0272-6386(12)80425-2. Am J Kidney Dis. 1993. PMID: 8238008 Review.
Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the 5' end and p …
Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion i …
Clinical and molecular diagnosis of Alport syndrome.
Kashtan CE. Kashtan CE. Proc Assoc Am Physicians. 1995 Oct;107(3):306-13. Proc Assoc Am Physicians. 1995. PMID: 8608415 Review.
Cotransmission of X-linked dominant Alport syndrome and diffuse leiomyomatosis in some families results from deletions involving the COL4A5 gene and the contiguous COL4A6 gene. ...
Cotransmission of X-linked dominant Alport syndrome and diffuse leiomyomatosis in some families results from deletions involving the …
Diffuse leiomyomatosis in Alport syndrome.
Cochat P, Guibaud P, Garcia Torres R, Roussel B, Guarner V, Larbre F. Cochat P, et al. J Pediatr. 1988 Aug;113(2):339-43. doi: 10.1016/s0022-3476(88)80280-4. J Pediatr. 1988. PMID: 3294362 Review. No abstract available.
The clinical spectrum of type IV collagen mutations.
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ. Lemmink HH, et al. Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9195222 Review.
The spectrum of mutations is broad and provides insight into the clinical heterogeneity of Alport syndrome with respect to age at renal failure and accompanying features such as deafness, leiomyomatosis, and anti-GBM nephritis....
The spectrum of mutations is broad and provides insight into the clinical heterogeneity of Alport syndrome with respect to age at renal fail …
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth.
Thielen BK, Barker DF, Nelson RD, Zhou J, Kren SM, Segal Y. Thielen BK, et al. Hum Mutat. 2003 Nov;22(5):419. doi: 10.1002/humu.9191. Hum Mutat. 2003. PMID: 14517961
Diffuse leiomyomatosis is associated with the inherited kidney disease Alport syndrome, and characterized by visceral smooth muscle overgrowth within the respiratory, gastrointestinal and female reproductive tracts. ...To further clarify pathogenic mechanisms, we have char …
Diffuse leiomyomatosis is associated with the inherited kidney disease Alport syndrome, and characterized by visceral smooth muscle o …
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X, Wang J, Mao J, Ye Q. Zhou X, et al. Front Med (Lausanne). 2021 Oct 27;8:766224. doi: 10.3389/fmed.2021.766224. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34778325 Free PMC article.
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5' exons of COL4A5 and COL4A6. Studies have suggested that the occurrence of diffuse leiomyomatosis is associated with the characteristic localis …
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5' exons of …
70 results