1 |
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
62
5
|
Daga A...Hildebrandt F
|
28893421 |
2018 |
2 |
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
53
62
|
Hou J...Goodenough DA
|
19706394 |
2009 |
3 |
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
53
62
|
Al-Haggar M...Abdel-Hady D
|
19165416 |
2009 |
4 |
Analysis of claudin genes in pediatric patients with Bartter's syndrome.
53
62
|
Chen YH...Lu Q
|
19538297 |
2009 |
5 |
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
53
62
|
Brochard K...Vargas-Poussou R
|
19096086 |
2009 |
6 |
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
53
62
|
Levin-Iaina N...Holtzman EJ
|
19296982 |
2009 |
7 |
Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients.
53
62
|
Himmerkus N...Bleich M
|
18784260 |
2008 |
8 |
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet.
53
62
|
Raeder H...Bjerknes R
|
18775977 |
2008 |
9 |
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.
53
62
|
Hampson G...Scoble J
|
18816383 |
2008 |
10 |
Molecular determinants of magnesium homeostasis: insights from human disease.
53
62
|
Alexander RT...Bindels RJ
|
18562569 |
2008 |
11 |
Hypercalciuria revisited: one or many conditions?
53
62
|
Vezzoli G...Gambaro G
|
17943325 |
2008 |
12 |
Preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults.
53
62
|
Rockwell GF...Campfield TJ
|
18025797 |
2008 |
13 |
[Calcium-sensing receptor and hypoparathyroidism].
53
62
|
Michigami T
|
17660614 |
2007 |
14 |
Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium.
53
62
|
Hou J...Goodenough DA
|
17442678 |
2007 |
15 |
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.
53
62
|
Staiger K...Haring HU
|
17347984 |
2007 |
16 |
Hypercalciuria in patients with CLCN5 mutations.
53
62
|
Ludwig M...Bokenkamp A
|
16807762 |
2006 |
17 |
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
53
62
|
Muller D...Hunziker W
|
16705067 |
2006 |
18 |
Hydrochlorothiazide in CLDN16 mutation.
53
62
|
Zimmermann B...Dotsch J
|
16595585 |
2006 |
19 |
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.
53
62
|
Mittelman SD...Geffner ME
|
16608894 |
2006 |
20 |
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.
53
62
|
Muller D...Hunziker W
|
16501001 |
2006 |
21 |
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.
53
62
|
Kausalya PJ...Hunziker W
|
16528408 |
2006 |
22 |
An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics.
53
62
|
Kutluturk F...Ozbey N
|
16804318 |
2006 |
23 |
Paracellin-1 and the modulation of ion selectivity of tight junctions.
53
62
|
Hou J...Goodenough DA
|
16234325 |
2005 |
24 |
The role of preemptive liver transplantation in primary hyperoxaluria type 1.
53
62
|
Kemper MJ
|
16284878 |
2005 |
25 |
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.
53
62
|
Kang JH...Choi Y
|
16047219 |
2005 |
26 |
Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis.
53
62
|
Verhulst A...De Broe ME
|
16164641 |
2005 |
27 |
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
53
62
|
Ludwig M...Waldegger S
|
15895257 |
2005 |
28 |
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.
53
62
|
Tasic V...Konrad M
|
15856319 |
2005 |
29 |
Phenotype and genotype of Dent's disease in three Korean boys.
53
62
|
Cheong HI...Choi Y
|
15719255 |
2005 |
30 |
Screening for CLCN5 mutation in renal calcium stone formers patients.
53
62
|
Rebelo MA...Morales MM
|
15692680 |
2005 |
31 |
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment.
53
62
|
Skalova S
|
16259316 |
2005 |
32 |
Examination of megalin in renal tubular epithelium from patients with Dent disease.
53
62
|
Santo Y...Ozono K
|
15052463 |
2004 |
33 |
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.
53
62
|
Cheidde L...Heilberg IP
|
14654610 |
2003 |
34 |
A role for CBS domain 2 in trafficking of chloride channel CLC-5.
53
62
|
Carr G...Sayer J
|
14521953 |
2003 |
35 |
Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis.
53
62
|
Sikora P...Hoppe B
|
12920632 |
2003 |
36 |
Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2.
53
62
|
Chau H...Tenenhouse HS
|
12674325 |
2003 |
37 |
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss.
53
62
|
Meij IC...Knoers NV
|
12584272 |
2003 |
38 |
Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene.
53
62
|
Wolf MT...Rascher W
|
12185465 |
2002 |
39 |
Primary gene structure and expression studies of rodent paracellin-1.
53
62
|
Weber S...Konrad M
|
11729235 |
2001 |
40 |
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
53
62
|
Nolkemper D...Muller-Wiefel DE
|
10933316 |
2000 |
41 |
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
53
62
|
Konrad M...Hildebrandt F
|
10906158 |
2000 |
42 |
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
53
62
|
Weber S...Konrad M
|
10878661 |
2000 |
43 |
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
53
62
|
Thakker RV
|
10720930 |
2000 |
44 |
CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.
53
62
|
Hoopes RR...Scheinman SJ
|
9734595 |
1998 |
45 |
Molecular biology and clinical importance of the Ca(2+)-sensing receptor.
53
62
|
De Luca F...Baron J
|
9757371 |
1998 |
46 |
X-linked recessive nephrolithiasis: presentation and diagnosis in children.
53
62
|
Schurman SJ...Scheinman SJ
|
9602200 |
1998 |
47 |
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.
53
62
|
Morimoto T...Marumo F
|
9596078 |
1998 |
48 |
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies.
53
62
|
Pearce SH
|
9519207 |
1998 |
49 |
Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome.
53
62
|
Ismail EA...Sabry MA
|
9453381 |
1997 |
50 |
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
53
62
|
Akuta N...Thakker RV
|
9328929 |
1997 |