患有奥尔波特综合征的女性的预后情况。 - Suppr

Outcome of females with Alport syndrome.

作者信息

Koyun Mustafa, Aksoy Gülşah Kaya, Çomak Elif, Akman Sema

机构信息

Department of Pediatrics, Division of Pediatric Nephrology, School of Medicine, Akdeniz University, 07070, Antalya, Turkey.

出版信息

Pediatr Nephrol. 2022 Aug;37(8):1937. doi: 10.1007/s00467-022-05592-4. Epub 2022 Apr 27.

DOI:10.1007/s00467-022-05592-4

PMID:35478268

Abstract

摘要

相似文献

Outcome of females with Alport syndrome.

Pediatr Nephrol. 2022 Aug;37(8):1937. doi: 10.1007/s00467-022-05592-4. Epub 2022 Apr 27.

Genetic testing and glomerular hematuria-A nephrologist's perspective.

Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):399-403. doi: 10.1002/ajmg.c.31987. Epub 2022 Jul 1.

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.

Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.

Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.

Nephrology (Carlton). 2015 Aug;20(8):580. doi: 10.1111/nep.12430.

Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

BMC Nephrol. 2017 Oct 31;18(1):325. doi: 10.1186/s12882-017-0735-y.

Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.

Nephron. 2019;141(3):213-218. doi: 10.1159/000495764. Epub 2019 Jan 18.

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Kidney Int. 2018 May;93(5):1045-1051. doi: 10.1016/j.kint.2017.12.018. Epub 2018 Mar 16.

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

Kidney Int. 2007 Jun;71(12):1287-95. doi: 10.1038/sj.ki.5002221. Epub 2007 Mar 28.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.

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Outcome of females with Alport syndrome.

作者信息

Koyun Mustafa, Aksoy Gülşah Kaya, Çomak Elif, Akman Sema

机构信息

Department of Pediatrics, Division of Pediatric Nephrology, School of Medicine, Akdeniz University, 07070, Antalya, Turkey.

出版信息

Pediatr Nephrol. 2022 Aug;37(8):1937. doi: 10.1007/s00467-022-05592-4. Epub 2022 Apr 27.

DOI:10.1007/s00467-022-05592-4

PMID:35478268

Abstract

摘要

相似文献

Outcome of females with Alport syndrome.

Pediatr Nephrol. 2022 Aug;37(8):1937. doi: 10.1007/s00467-022-05592-4. Epub 2022 Apr 27.

Genetic testing and glomerular hematuria-A nephrologist's perspective.

Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):399-403. doi: 10.1002/ajmg.c.31987. Epub 2022 Jul 1.

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.

Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.

Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.

Nephrology (Carlton). 2015 Aug;20(8):580. doi: 10.1111/nep.12430.

Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

BMC Nephrol. 2017 Oct 31;18(1):325. doi: 10.1186/s12882-017-0735-y.

Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.

Nephron. 2019;141(3):213-218. doi: 10.1159/000495764. Epub 2019 Jan 18.

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

Kidney Int. 2018 May;93(5):1045-1051. doi: 10.1016/j.kint.2017.12.018. Epub 2018 Mar 16.

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

Kidney Int. 2007 Jun;71(12):1287-95. doi: 10.1038/sj.ki.5002221. Epub 2007 Mar 28.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.

Outcome of females with Alport syndrome.

作者信息

机构信息

出版信息

相似文献

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Outcome of females with Alport syndrome.

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