Prospective Evaluation of Kidney Disease in Joubert Syndrome

Fleming Leah R.; Doherty Daniel A.; Parisi Melissa A.; Glass Ian A.; Bryant Joy; Fischer Roxanne; Turkbey Baris; Choyke Peter; Daryanani Kailash; Vemulapalli Meghana; Mullikin James C.; Malicdan May Christine; Vilboux Thierry; Sayer John A.; Gahl William A.; Gunay-Aygun Meral

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Prospective Evaluation of Kidney Disease in Joubert Syndrome

机译：朱伯特综合征肾病预期评价

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Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with 30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center.

机译：背景和目标joubert综合征是与＆ 30基因相关的遗传异质性肺病。肾脏疾病和基因型 - 表型相关性的特征尚未在单一中心的大队列中进行评估。

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《Clinical journal of the American Society of Nephrology: CJASN》 |2017年第12期|共12页
作者
Fleming Leah R.; Doherty Daniel A.; Parisi Melissa A.; Glass Ian A.; Bryant Joy; Fischer Roxanne; Turkbey Baris; Choyke Peter; Daryanani Kailash; Vemulapalli Meghana; Mullikin James C.; Malicdan May Christine; Vilboux Thierry; Sayer John A.; Gahl William A.; Gunay-Aygun Meral;
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NHGRI NIH 10 Ctr Dr Bldg 10 Room 10C10310C103 Bethesda MD 20892 USA;

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正文语种 eng
中图分类泌尿科学（泌尿生殖系疾病）;
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1. Prospective Evaluation of Kidney Disease in Joubert Syndrome [J] . Fleming Leah R., Doherty Daniel A., Parisi Melissa A., Clinical journal of the American Society of Nephrology: CJASN . 2017,第12期

机译：朱伯特综合征肾病预期评价
2. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center [J] . Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Ophthalmology . 2018,第12期

机译：Joubert综合征：在一个中心评估的99名患者中与基因型和肝癌病相关的眼科发现
3. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center [J] . Vilboux Thierry, Doherty Daniel A., Glass Ian A., Genetics in medicine . 2017,第8期

机译：在单个中心的joubert综合征100例患者中的分子遗传发现和临床相关性
4. The Natural History of Chronic Kidney Disease Revisited-A 72-Month Mayo Health System Hypertension Clinic Practice-Based Research Network Prospective Report on End-Stage Renal Disease and Death Rates in 100 High-Risk Chronic Kidney Disease Patients: A Call for Circumspection [C] . Macaulay A.C. Onuigbo Conference on Peritoneal Dialysis . 2009

机译：慢性肾病的自然历史重新审议-A 72个月的MASO卫生系统高血压诊所的研究网络网络前期肾病和死亡率100个高危慢性肾病患者的死亡率：一个呼吁守则
5. Evaluation of a Protocol to Diagnose Chronic Kidney Disease Using The Kidney Disease Outcomes Quality Initiatives (KDOQI) Guideline: Evaluation, Classification, and Stratification (ECS) [D] . Cotton, Sandra L. 2012

机译：使用肾脏病结果质量倡议（KDOQI）指南评估诊断慢性肾脏病的方案：评估，分类和分层（ECS）
6. Characteristics of liver disease in 100 Individuals with Joubert syndrome prospectively evaluated at a single center [O] . Anna Strongin, Theo Heller, Dan Doherty, -1

机译：在单个中心前瞻性评估100名Joubert综合征患者的肝病特征
7. Prospective Evaluation of Kidney Disease in Joubert Syndrome [O] . Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, 2017

机译：朱伯特综合征肾病预期评价

Prospective Evaluation of Kidney Disease in Joubert Syndrome

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