(Q56973183)

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Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165188%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165188%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

focal segmental glomerulosclerosis

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based on heuristic

inferred from title

Gianluca Caridi

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165188%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Francesca Lugani

2

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14 March 2020

Maddalena Gigante

4

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14 March 2020

Mariateresa Falco

6

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14 March 2020

15

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14 March 2020

Gian Marco Ghiggeri

17

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14 March 2020

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Monica Dagnino

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14 March 2020

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Elisa Benetti

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14 March 2020

Loreto Gesualdo

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Loreto Gesualdo

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14 March 2020

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Achille Iolascon

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14 March 2020

Claudio Graziano

7

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14 March 2020

Mauro Dugo

9

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14 March 2020

Dorella Del Prete

10

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14 March 2020

Antonio Granata

11

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14 March 2020

Donella Borracelli

12

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14 March 2020

Elisabetta Moggia

13

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14 March 2020

Marco Quaglia

14

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14 March 2020

language of work or name

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publication date

1 September 2014

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Europe PubMed Central

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14 March 2020

Nephrology Dialysis Transplantation

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14 March 2020

29 Suppl 4

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14 March 2020

suppl 4

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iv80-6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165188%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

Mechanisms of disease: focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Focal segmental glomerulosclerosis--epidemiology aspects in children and adults

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Familial forms of nephrotic syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

LMX1B mutations cause hereditary FSGS without extrarenal involvement

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Broadening the spectrum of diseases related to podocin mutations

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Staying in shape with formins

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Variable renal phenotype in a family with an INF2 mutation

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU071

21 January 2018

Identifiers

10.1093/NDT/GFU071

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165188%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25165188%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

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