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Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease.

作者信息

Scolari F, Valzorio B, Carli O, Vizzardi V, Costantino E, Grazioli L, Bondioni M P, Savoldi S, Maiorca R

机构信息

Chair of Nephrology, University and Spedali Civili, Brescia, Italy.

出版信息

Nephrol Dial Transplant. 1997 Jun;12(6):1247-50. doi: 10.1093/ndt/12.6.1247.

DOI:10.1093/ndt/12.6.1247
PMID:9198060
Abstract
摘要

相似文献

1
Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease.
Nephrol Dial Transplant. 1997 Jun;12(6):1247-50. doi: 10.1093/ndt/12.6.1247.
2
Renal cystic disease associated with orofaciodigital syndrome.
Urol Radiol. 1992;13(3):153-7. doi: 10.1007/BF02924610.
3
Oral-facial-digital syndrome type 1 coexisting with polycystic kidney disease.1型口面指综合征合并多囊肾病
Contrib Nephrol. 1997;122:58-60. doi: 10.1159/000059869.
4
Outcome of kidney transplantation in type I oral-facial-digital syndrome.I型口面指综合征患者肾移植的结果
Transpl Int. 2011 Jun;24(6):e48-50. doi: 10.1111/j.1432-2277.2010.01208.x. Epub 2011 Jan 6.
5
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.一名患有单侧胫骨假关节的女孩的I型口面指综合征。
J Med Genet. 1992 Nov;29(11):827-30. doi: 10.1136/jmg.29.11.827.
6
Oral-facial-digital syndrome type 1: the kidney cystic disease that mimics autosomal dominant polycystic kidney disease.1型口面指综合征:类似常染色体显性多囊肾病的肾囊性疾病。
Kidney Int. 2023 Aug;104(2):399. doi: 10.1016/j.kint.2023.03.002.
7
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease.
Nephrol Dial Transplant. 1997 May;12(5):1040-2. doi: 10.1093/ndt/12.5.1040.
8
The hypertensive young lady with renal cysts--it is not always polycystic kidney disease.患有肾囊肿的高血压年轻女性——并不总是多囊肾病。
Nephrol Dial Transplant. 2000 Aug;15(8):1245-7. doi: 10.1093/ndt/15.8.1245.
9
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.I型口面指综合征伴多囊肾和胼胝体发育不全。
J Med Genet. 1987 Feb;24(2):116-8. doi: 10.1136/jmg.24.2.116.
10
Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.一名患有I型口面指综合征患者的多囊肾病。
Clin Genet. 1976 Feb;9(2):183-6. doi: 10.1111/j.1399-0004.1976.tb01565.x.

引用本文的文献

1
Case series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability.两名患有罕见遗传病和智力残疾的儿科肾移植受者的病例系列。
BMC Pediatr. 2024 Dec 19;24(1):823. doi: 10.1186/s12887-024-05304-x.
2
Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1.妊娠期出现的囊性肾病:1型口面指综合征的一种新表现形式。
NDT Plus. 2008 Feb;1(1):23-25. doi: 10.1093/ndtplus/sfm012. Epub 2007 Dec 19.
3
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
在 30 个 1 型或面指综合征家系中发现包括整个 OFD1 基因突变,包括缺失:广泛临床变异性研究。
Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
4
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.25例1型口面指综合征的临床、分子及基因型-表型相关性研究:一项法国和比利时的合作研究
J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672.
5
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.OFD1基因的新型双缺失突变产生多种新型转录本。
Hum Genet. 2004 Jul;115(2):97-103. doi: 10.1007/s00439-004-1139-1. Epub 2004 Jun 2.
6
Identification of the gene for oral-facial-digital type I syndrome.I型口面指综合征基因的鉴定。
Am J Hum Genet. 2001 Mar;68(3):569-76. doi: 10.1086/318802. Epub 2001 Feb 13.