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Clinical spectrum of male patients with OFD1 mutations.

• Authors : Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.; Morisada N

Subjects: Mutation*; Orofaciodigital Syndromes/Orofaciodigital Syndromes/Orofaciodigital Syndromes/*genetics ; Orofaciodigital Syndromes/Orofaciodigital Syndromes/Orofaciodigital Syndromes/*pathology Orofaciodigital syndrome type1

• Source: Journal of human genetics [J Hum Genet] 2019 Jan; Vol. 64 (1), pp. 3-9. Date of Electronic Publication: 2018 Nov 06.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

• Authors : Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.; Morisada N

Subjects: DNA Mutational Analysis* ; High-Throughput Nucleotide Sequencing* ; Sequence Deletion*

• Source: Clinical and experimental nephrology [Clin Exp Nephrol] 2017 Feb; Vol. 21 (1), pp. 136-142. Date of Electronic Publication: 2016 Mar 11.Publisher: Springer Country of Publication: Japan NLM ID: 9709923 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-7799

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Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.

• Authors : Sakakibara, Nana; Nagano, China; Ishiko, Shinya

Subjects: ASPARTATE aminotransferase; CALCIUM; CREATINE kinase

• Source: Pediatric Nephrology. Dec2020, Vol. 35 Issue 12, p2319-2326. 8p. 2 Charts, 3 Graphs.

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Agricola

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IgA nephropathy with presentation of nephrotic syndrome at onset in children.

• Authors : Shima, Yuko; Nakanishi, Koichi; Sato, Masashi

Subjects: AGE factors in disease; CHRONIC kidney failure; COMPARATIVE studiesJAPAN

• Source: Pediatric Nephrology. Mar2017, Vol. 32 Issue 3, p457-465. 9p. 1 Illustration.

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Risk factors for persistent proteinuria after a 2-year combination therapy for severe childhood IgA nephropathy.

• Authors : Kamei, Koichi; Nakanishi, Koichi; Ito, Shuichi

Subjects: PROTEINURIA; DRUG therapy; WARFARINJAPAN

• Source: Pediatric Nephrology. Jun2015, Vol. 30 Issue 6, p961-967. 7p. 1 Diagram, 4 Charts, 1 Graph.

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Treatment strategies for Henoch-Schönlein purpura nephritis by histological and clinical severity.

• Authors : Ninchoji, Takeshi; Kaito, Hiroshi; Nozu, Kandai

Subjects: ADRENOCORTICAL hormones; HORMONE therapy; ACE inhibitorsJAPAN

• Source: Pediatric Nephrology. Apr2011, Vol. 26 Issue 4, p563-569. 7p. 2 Charts, 1 Graph.

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