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■ Abbreviation / Long Form : GS / Gitelman syndrome

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Total Number of Papers: 161
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Abbreviation:   GS  (>> Co-occurring Abbreviation)
Long Form:   Gitelman syndrome
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 Clinical and Genetic Characteristics in Patients With Gitelman Syndrome. GH
2018 A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree. NCC
2018 A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia. NCCT
2018 Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome. ---
2018 Coexistence of Gitelman Syndrome and Hypertrophic Cardiomyopathy in a Pregnant Woman. ---
2018 Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review. ---
2018 Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. BS, CCD
2018 Consideration of the diagnosis of hypertension accompanied with hypokalaemia: monism or dualism? SLC12A3
10  2018 Etiological Search and Epidemiological Profile in Patients Presenting with Hypokalemic Paresis: An Observational Study. BS, HPP, RTA
11  2018 Galphaq/p63RhoGEF interaction in RhoA/Rho kinase signaling: investigation in Gitelman's syndrome and implications with hypertension. Ang II
12  2018 Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. ACMG, BP, BS
13  2018 Gitelman syndrome and primary hyperparathyroidism: a rare association. ---
14  2018 Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients. HCT, NCC, ROC
15  2018 Persistent QT Prolongation in a Child with Gitelman Syndrome and SCN5A H558R Polymorphism. ---
16  2018 Proinflammatory/profibrotic effects of aldosterone in Gitelman's syndrome, a human model opposite to hypertension. HS, MNL, OxSt
17  2018 Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report. ---
18  2017 A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry. ---
19  2017 A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations. BS, TAL
20  2017 Acquired Gitelman syndrome in a primary Sjogren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review. SS
21  2017 Analysis of Clinical and Metabolic Profile of Acute Neuromuscular Weakness Related to Hypokalemia. CPK, DHP, IHP, MRC, SG, SGOT, TPP
22  2017 Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine. CM
23  2017 Cryptic exon activation in SLC12A3 in Gitelman syndrome. SLC12A3
24  2017 Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. ---
25  2017 Gitelman Syndrome. ---
26  2017 Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. KDIGO, NCC
27  2017 Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome. ---
28  2017 Glucose tolerance and insulin responsiveness in Gitelman syndrome patients. DM
29  2017 Hyponatremia - A rare complication of Gitelman's syndrome. ---
30  2017 Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome. COX2, PGE2
31  2017 Inherited, not acquired, Gitelman syndrome in a patient with Sjogren's syndrome: importance of genetic testing to distinguish the two forms. ---
32  2017 Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. ---
33  2017 Mutation profile and treatment of Gitelman syndrome in Chinese patients. ---
34  2017 Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report. NCC
35  2017 [Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees]. ---
36  2017 [Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome]. ACEIs, ARBs, NCC, PGSIs
37  2016 A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome. SLC12A3
38  2016 A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. ---
39  2016 A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome. ---
40  2016 Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation. NCCT
41  2016 Clinical and Aetiological Spectrum of Hypokalemic Flaccid Paralysis in Western Odisha. dRTA, HHP, HKFP, HPP
42  2016 Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. BS
43  2016 Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay. HEK, NCC
44  2016 Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort. ---
45  2016 Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome. FE
46  2016 Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome. ---
47  2016 Hyperemesis Gravidarum in Undiagnosed Gitelman's Syndrome. NCCT
48  2016 Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome. ---
49  2016 New SLC12A3 disease causative mutation of Gitelman's syndrome. ---
50  2016 Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review. ---
51  2016 Value of Chloride Clearance Test in Differential Diagnosis of Gitelman Syndrome. FUR, HCT, ROC
52  2016 [Gitelmans syndrome as common cause of hypokalemia and hypomagnesemia]. NCCT
53  2015 A pedigree analysis of two homozygous mutant Gitelman syndrome cases. NCCT
54  2015 Gitelman's syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female. ---
55  2015 Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman's syndrome. ---
56  2015 Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature. ---
57  2015 Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome. ---
59  2015 Thiazide-sensitive Na+ -Cl- cotransporter (NCC) gene inactivation results in increased duodenal Ca2+ absorption, enhanced osteoblast differentiation and elevated bone mineral density. BMD, ERK, FAK, MAR, NCC, S707X
60  2015 Two cases of successful pregnancy in patients with Gitelman's syndrome. DCT
61  2015 Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes. BS, SLTs, UE
62  2015 [Gitelman's Syndrome: from diagnosis to follow-up during pregnancy]. ---
63  2014 A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients. NGS, PGM
64  2014 A man with a worrying potassium deficiency. ---
65  2014 A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. NCCT
66  2014 Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency. BS, IAD
67  2014 Clinical severity of Gitelman syndrome determined by serum magnesium. TRPM6
68  2014 Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. ---
69  2014 Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. adFNDI
70  2013 A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia. ---
71  2013 Abnormal glucose metabolism and insulin sensitivity in Chinese patients with Gitelman syndrome. AUC
72  2013 Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia. BS
73  2013 Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation. BS
74  2013 Gitelman syndrome as a cause of psychomotor retardation in a toddler. BS
75  2013 Gitelman's syndrome associated with chondrocalcinosis: a case report. ---
76  2013 Phosphorylation regulates NCC stability and transporter activity in vivo. OSR1, SPAK
77  2013 Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. ---
78  2012 A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test. NCCT
79  2012 Concomitance of Gitelman syndrome and familial Mediterranean fever: a rare case presentation. FMF
80  2012 Eplerenone improved hypokalemia in a patient with Gitelman's syndrome. ---
81  2012 Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation. ---
82  2012 Gitelman syndrome and pregnancy. ---
83  2012 Gitelman's syndrome presenting with hypocalcaemia, basal ganglia calcification and periodic paralysis. ---
84  2012 Gitelman's syndrome: a pathophysiological and clinical update. ---
85  2012 High-frequency variant p.T60M in NaCl cotransporter and blood pressure variability in Han Chinese. BP, NCC
86  2012 Localization of tubular adaptation to renal sodium loss in Gitelman syndrome. ---
87  2012 Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. NCC, SLC12A3
88  2012 Spinal cord meningioma: a treatable cause of paraplegia. ---
89  2011 A case of Gitelman syndrome associated with idiopathic intracranial hypertension. IIH
90  2011 Acquired Gitelman's syndrome: an oxymoron? ---
91  2011 Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. BS, eGFR, GFR
92  2011 Focal segmental glomerulosclerosis in association with Gitelman syndrome. ---
93  2011 Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family. ---
94  2011 Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome. ---
95  2011 Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome. NCC
96  2011 Spectrum of mutations in Gitelman syndrome. MLPA, NCC
97  2011 The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor. ---
98  2010 A case of nephrotic syndrome with Gitelman's syndrome. ---
99  2010 Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome. DCT, Enac, HOM, NCC, NMD
100  2010 Gitelman syndrome with mental retardation: a case report. NCCT