(Q57082621)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21932319%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations (English)

1 reference

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13 February 2020

1 reference

2

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13 February 2020

Carlos López Otín

11

1 reference

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13 February 2020

author name string

Rubén Cabanillas

1

1 reference

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13 February 2020

Mercedes Pérez

4

1 reference

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13 February 2020

Jesús Longo

5

1 reference

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13 February 2020

Rafael Illán

9

1 reference

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13 February 2020

José A F Villameytide

3

1 reference

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13 February 2020

José M Richard

6

1 reference

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13 February 2020

Rebeca Alvarez

7

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13 February 2020

Noelia S Durán

8

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13 February 2020

Daniel J González

10

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13 February 2020

language of work or name

English

0 references

publication date

19 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21932319%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

13 February 2020

published in

1 reference

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13 February 2020

volume

155A

1 reference

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13 February 2020

issue

11

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13 February 2020

page(s)

2617-2625

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21932319%20AND%20SRC:MED&resulttype=core&format=json

Guidance on the use of bisphosphonates in solid tumours: recommendations of an international expert panel

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Progeria syndromes and ageing: what is the connection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Teriparatide therapy for alendronate-associated osteonecrosis of the jaw.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Hutchinson-Gilford progeria syndrome: review of the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

De Barsy syndrome: a review of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Inherited multicentric osteolysis: case report of three siblings treated with bisphosphonate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Phenotype and course of Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Accelerated ageing: from mechanism to therapy through animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Effects of OP-1 and PTH in a new experimental model for the study of metaphyseal bone healing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Laminopathies and the long strange trip from basic cell biology to therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34249

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34249

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21932319%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference