(Q33419184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1

1 reference

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24 February 2020

Anna Niemirska

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Mieczyslaw Litwin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Krystyna Chrzanowska

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

Małgorzata Krajewska-Walasek

24 February 2020

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Maria Szczepanska

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Przemyslaw Sikora

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Anna Moczulska

6

0 references

Krzysztof Pawlaczyk

22

object named as

Krzysztof Pawlaczyk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Marcin Zaniew

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Detlef Böckenhauer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Nunzia Miglietti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Arend Bökenkamp

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Anna Rogowska-Kalisz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Guido Laube

8

1 reference

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24 February 2020

Valerie Said-Conti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Belde Kasap-Demir

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Grzegorz Siteń

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Sidharth K Sethi

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Velibor Tasic

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Franca Anglani

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Maria Addis

19

1 reference

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24 February 2020

Anna Wasilewska

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Michael Ludwig

24

1 reference

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24 February 2020

publication date

6 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

931-943

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-014-3013-2

24 February 2020

exact match

0 references

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Fanconi or not Fanconi? Lowe syndrome revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Early proximal tubular dysfunction in Lowe's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

MRI findings and peripheral neuropathy in Lowe's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Dent Disease with mutations in OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Novel OCRL mutations in patients with Dent-2 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Dent-2 disease: a mild variant of Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

The cellular and physiological functions of the Lowe syndrome protein OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Renal manifestations of Dent disease and Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Lowe syndrome: a single center's experience in Korea

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Anticonvulsant drugs and hematological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

The molecular architecture of the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Ciliary dysfunction in developmental abnormalities and diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

OCRL1 mutations in patients with Dent disease phenotype in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

21 January 2018

Oligogyric microcephaly.

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Unusual renal features of Lowe syndrome in a mildly affected boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Carbamazepine-induced thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-3013-2

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

21 January 2018

1 reference

12 December 2020

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

1 reference

12 December 2020

Identification and characterization of the phosphatidylinositol-(4, 5)-bisphosphate 5-phosphatase in human platelets

1 reference

12 December 2020

Urinary excretion of calcium and magnesium in children

1 reference

12 December 2020

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

1 reference

12 December 2020

Corneal endothelial cell measurements in megalocornea

1 reference

12 December 2020

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

1 reference

12 December 2020

The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents

1 reference

12 December 2020

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

1 reference

12 December 2020

Renal threshold phosphate concentration (TmPO4/GFR)

1 reference

12 December 2020

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

1 reference

12 December 2020

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair

1 reference

12 December 2020

10.1007/S00467-014-3013-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25480730%20AND%20SRC:MED&resulttype=core&format=json