(Q24296683)

GOA release 2020-03-11

bone mineralization

1 reference

Shwachman-Diamond syndrome

GOA release 2020-03-11

1 reference

12

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Marc Grynpas

5

object named as

Marc Grynpas

0 references

Shirō Ikegawa

7

object named as

Shiro Ikegawa

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author name string

Sanna Toiviainen-Salo

1

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Mervi K Mäyränpää

2

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Peter R Durie

3

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Nicole Richards

4

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Lynda Ellis

6

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William G Cole

8

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Johanna Rommens

9

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Eino Marttinen

10

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Erkki Savilahti

Identification of novel mutations in patients with Shwachman-Diamond syndrome

11

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language of work or name

English

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publication date

December 2007

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published in

Bone

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volume

41

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issue

6

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page(s)

965-72

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Static and tetracycline-based bone histomorphometric data from 34 normal postmenopausal females

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Vertebral fracture assessment using a semiquantitative technique.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Interim report and recommendations of the World Health Organization Task-Force for Osteoporosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Estimates of optimal vitamin D status

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

The effect of vitamin K and D supplementation on ovariectomy-induced bone loss

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Depressed levels of circulating menaquinones in patients with osteoporotic fractures of the spine and femoral neck

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Bone densitometry in pediatric populations: discrepancies in the diagnosis of osteoporosis by DXA and CT.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Phylogeny, sequence conservation, and functional complementation of the SBDS protein family

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Importance of lean mass in the interpretation of total body densitometry in children and adolescents

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Percentile curves for hemoglobin and red cell volume in infancy and childhood

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Vitamin K and bone health

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Normative data for iliac bone histomorphometry in growing children.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Mutations in SBDS are associated with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman-diamond syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Comparison of two methods for transforming height and weight to normality

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Magnetic resonance imaging for diagnosis of Shwachman's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Variation of growth in height and weight of children. II. After infancy

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Association of pancreatic insufficiency and chronic neutropenia in childhood

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman's syndrome. A review of 21 cases

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Serum immunoreactive cationic trypsinogen: a useful indicator of severe exocrine dysfunction in the paediatric patient without cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Osteoporosis and osteopenia in adults and adolescents with cystic fibrosis: prevalence and associated factors

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Low bone mineral density in adults with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Shwachman's Syndrome: The Broad Spectrum of Bony Abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Metaphyseal Dysostosis and the Associated Syndrome of Pancreatic Insufficiency and Blood Disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Osteoclastogenesis during Infective Exacerbations in Patients with Cystic Fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Unusual Bone Changes in Exocrine Pancreas Insufficiency with Cyclic Neutropenia

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

The Shwachman-Diamond SBDS protein localizes to the nucleolus

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Vitamin D status as a determinant of peak bone mass in young Finnish men.

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Vitamin D deficiency and bone health in healthy adults in Finland: could this be a concern in other parts of Europe?

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Bone histomorphometry in adult patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Vitamin K status among children with cystic fibrosis and its relationship to bone mineral density and bone turnover

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.BONE.2007.08.035

7 January 2021