Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations (Q57082621)

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13 February 2020

title

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

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13 February 2020

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2

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13 February 2020

Carlos López Otín

11

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author name string

Rubén Cabanillas

1

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13 February 2020

Mercedes Pérez

4

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13 February 2020

Jesús Longo

5

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13 February 2020

Rafael Illán

9

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13 February 2020

José A F Villameytide

3

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13 February 2020

José M Richard

6

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13 February 2020

Rebeca Alvarez

7

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Noelia S Durán

8

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13 February 2020

Daniel J González

10

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language of work or name

English

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publication date

19 September 2011

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American Journal of Medical Genetics

13 February 2020

published in

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13 February 2020

volume

155A

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issue

11

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page(s)

2617-2625

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

13 February 2020

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

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

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

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Hutchinson-Gilford progeria syndrome: review of the phenotype.

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

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Phenotype and course of Hutchinson-Gilford progeria syndrome

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

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

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

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

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

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

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

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

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Identifiers

DOI

10.1002/AJMG.A.34249

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13 February 2020

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