1 |
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit.
61
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Costales M...Cabanillas R
|
31706454 |
2020 |
2 |
Hypokalemia and hearing loss in a 3-year-old boy: Questions.
61
|
Aksoy OY...Bayrakci US
|
31667618 |
2020 |
3 |
Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.
61
|
Sahbani D...Liantonio A
|
32256370 |
2020 |
4 |
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
61
|
Ramsbottom SA...Miles CG
|
31879347 |
2020 |
5 |
Clinical importance of potassium intake and molecular mechanism of potassium regulation.
61
|
Nomura N...Uchida S
|
31317362 |
2019 |
6 |
Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter.
61
|
Matsuura Y...Uchida S
|
31362893 |
2019 |
7 |
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.
61
|
Li J...Zhu S
|
31441846 |
2019 |
8 |
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.
61
|
Perez-Rius C...Estevez R
|
31177533 |
2019 |
9 |
[Genetic analysis of a pedigree affected with Bartter's syndrome].
61
|
Yang K...Wang D
|
31302915 |
2019 |
10 |
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
61
|
Najafi M...Schmidts M
|
30760291 |
2019 |
11 |
Reconstitution and NMR Characterization of the Ion-Channel Accessory Subunit Barttin in Detergents and Lipid-Bilayer Nanodiscs.
61
|
Viennet T...Etzkorn M
|
30931313 |
2019 |
12 |
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.
61
|
Elrharchi S...Barakat A
|
30174009 |
2018 |
13 |
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
61
|
Cabanillas R...Cadinanos J
|
29986705 |
2018 |
14 |
Clinical and diagnostic features of Bartter and Gitelman syndromes.
61
|
Walsh PR...Bockenhauer D
|
29942493 |
2018 |
15 |
BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors.
61
|
Shinmura K...Sugimura H
|
28470573 |
2018 |
16 |
Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney.
61
|
Nomura N...Uchida S
|
29326302 |
2018 |
17 |
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.
61
|
Daum H...Meiner V
|
29327352 |
2018 |
18 |
Mutation spectrum of Chinese patients with Bartter syndrome.
61
|
Han Y...Shao L
|
29254190 |
2017 |
19 |
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan.
61
|
Imbrici P...Liantonio A
|
28334417 |
2017 |
20 |
Genetic causes of hypomagnesemia, a clinical overview.
61
|
Viering DHHM...Bockenhauer D
|
27234911 |
2017 |
21 |
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.
61
|
Wang HH...He CF
|
28012523 |
2017 |
22 |
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.
61
|
Tan H...Stolting G
|
28555110 |
2017 |
23 |
Molecular bases of K+ secretory cells in the inner ear: shared and distinct features between birds and mammals.
61
|
Wilms V...Nothwang HG
|
27680950 |
2016 |
24 |
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma.
61
|
Shinmura K...Sugimura H
|
26091477 |
2015 |
25 |
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
61
|
de Pablos AL...Claverie-Martin F
|
23110775 |
2014 |
26 |
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
61
|
Shafique S...Qamar R
|
24949729 |
2014 |
27 |
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice.
61
|
Nomura N...Uchida S
|
24189473 |
2013 |
28 |
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
61
|
Bichet DG...Bissonnette P
|
26069764 |
2012 |
29 |
Genetic basis of Bartter syndrome in Korea.
61
|
Lee BH...Cheong HI
|
21865213 |
2012 |
30 |
Generation and analyses of R8L barttin knockin mouse.
61
|
Nomura N...Uchida S
|
21593186 |
2011 |
31 |
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
61
|
Park CW...Lee JH
|
21269598 |
2011 |
32 |
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.
61
|
Iqbal H...Mir A
|
21541222 |
2011 |
33 |
A case of antenatal Bartter syndrome with sensorineural deafness.
61
|
Lee HS...Ki CS
|
21158220 |
2010 |
34 |
Physiology and pathophysiology of ClC-K/barttin channels.
61
|
Fahlke C...Fischer M
|
21423394 |
2010 |
35 |
Physiological genomics identifies estrogen-related receptor alpha as a regulator of renal sodium and potassium homeostasis and the renin-angiotensin pathway.
61
|
Tremblay AM...Giguere V
|
19901197 |
2010 |
36 |
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
61
|
Riazuddin S...Fahlke C
|
19646679 |
2009 |
37 |
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
61
|
Brochard K...Vargas-Poussou R
|
19096086 |
2009 |
38 |
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
61
|
Bircan Z...Jeck N
|
18843510 |
2009 |
39 |
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
61
|
Janssen AG...Fahlke C
|
18776122 |
2009 |
40 |
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.
61
|
Rickheit G...Jentsch TJ
|
18833191 |
2008 |
41 |
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
61
|
Nozu K...Matsuo M
|
18310267 |
2008 |
42 |
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.
61
|
Sile S...Williams SM
|
17652939 |
2008 |
43 |
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
61
|
Kramer BK...Waldegger S
|
18094726 |
2008 |
44 |
Functional BSND variants in essential hypertension.
61
|
Sile S...George AL
|
17954364 |
2007 |
45 |
Functional significance of channels and transporters expressed in the inner ear and kidney.
61
|
Lang F...Wangemann P
|
17670895 |
2007 |
46 |
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
61
|
Barlassina C...Cusi D
|
17510212 |
2007 |
47 |
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
61
|
Brum S...Calado J
|
16935888 |
2007 |
48 |
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
61
|
Ariceta G...Rodriguez-Soriano J
|
17275579 |
2006 |
49 |
Type IV Bartter syndrome: report of two new cases.
61
|
Zaffanello M...Emma F
|
16583241 |
2006 |
50 |
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.
61
|
Garcia-Nieto V...Claverie-Martin F
|
16572343 |
2006 |