(Q79378768)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

Mohammad Zouheir Habbal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

author name string

Sami A Sanjad

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Ali Hariri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Richard P Lifton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

publication date

23 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

page(s)

503-508

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17123117%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-006-0354-5

22 December 2019

exact match

0 references

cites work

Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria

1 reference

12 December 2020

1 reference

12 December 2020

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review

1 reference

12 December 2020

Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene

1 reference

12 December 2020

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

1 reference

12 December 2020

Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle

1 reference

12 December 2020

Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

1 reference

12 December 2020

Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone)

1 reference

12 December 2020

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Null mutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis

1 reference

12 December 2020

A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle.

1 reference

12 December 2020

Long-term outcome of paediatric patients with hereditary tubular disorders

1 reference

12 December 2020

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting

1 reference

12 December 2020

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

1 reference

12 December 2020