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Academic Journal

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

  • Authors : Mou L; Department of Nephrology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.; Tang M

Subjects: East Asian People*/East Asian People*/East Asian People*/genetics ; Gitelman Syndrome*/Gitelman Syndrome*/Gitelman Syndrome*/genetics; Humans

  • Source: Clinical genetics [Clin Genet] 2023 Dec; Vol. 104 (6), pp. 674-678. Date of Electronic Publication: 2023 Sep 13.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.

Subjects: Asian People/Asian People/Asian People/*genetics ; Gitelman Syndrome/Gitelman Syndrome/Gitelman Syndrome/*genetics; Adolescent

  • Source: Clinical genetics [Clin Genet] 2021 Apr; Vol. 99 (4), pp. 558-564. Date of Electronic Publication: 2021 Feb 02.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.

  • Authors : Zhang X; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, China.; Laboratory of Diabetes and Islet Transplantation Research, Center for Diabetes and Metabolism Research, West China Hospital of Sichuan University, Chengdu, China.

Subjects: Gitelman Syndrome*/Gitelman Syndrome*/Gitelman Syndrome*/complications ; Gitelman Syndrome*/Gitelman Syndrome*/Gitelman Syndrome*/diagnosis ; Gitelman Syndrome*/Gitelman Syndrome*/Gitelman Syndrome*/genetics

  • Source: Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 228-233. Date of Electronic Publication: 2022 Jun 02.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Subjects: KIDNEY disease diagnosis; DNA copy number variations; DIFFERENTIAL diagnosis

  • Source: Clinical Genetics; Feb2021, Vol. 99 Issue 2, p236-249, 14p

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Academic Journal

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.

Subjects: KIDNEY diseases; CYSTIC kidney disease; JUVENILE diseasesCHINA

  • Source: Clinical Genetics; Nov2019, Vol. 96 Issue 5, p402-410, 9p, 1 Diagram, 2 Charts, 2 Graphs

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Academic Journal

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Subjects: ATAXIA; EPILEPSY; WATER-electrolyte imbalances

  • Source: Clinical Genetics; Jan2019, Vol. 95 Issue 1, p63-78, 16p, 2 Diagrams, 4 Charts, 1 Graph

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Academic Journal

Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.

Subjects: MITOCHONDRIAL physiology; SYNDROMES; MITOCHONDRIAL pathology

  • Source: Clinical Genetics; May2018, Vol. 93 Issue 5, p943-951, 10p, 1 Diagram, 1 Chart

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Academic Journal

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels.

Subjects: CHOLESTERYL ester transfer protein; LOW density lipoproteins; OBESITY

  • Source: Clinical Genetics; Apr2016, Vol. 89 Issue 4, p495-500, 6p, 1 Chart, 2 Graphs

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Academic Journal

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

Subjects: HYPERTENSION; SCIMITAR syndrome; SINGLE nucleotide polymorphisms

  • Source: Clinical Genetics; Dec2015, Vol. 88 Issue 6, p579-583, 5p, 1 Diagram, 1 Chart

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Academic Journal

Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.

Subjects: MISSENSE mutation; LYSINE; PROTEIN kinases

  • Source: Clinical Genetics; Jun2013, Vol. 83 Issue 6, p545-552, 8p, 5 Charts, 3 Graphs

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  • 1-10 of  10 results for ""GITELMAN syndrome""