Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old (Q61813906)

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24 April 2020

title

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30782681%20AND%20SRC:MED&resulttype=core&format=json

Shwachman-Diamond syndrome

24 April 2020

main subject

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6

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24 April 2020

author name string

Marco Cipolli

1

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24 April 2020

Gloria Tridello

2

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24 April 2020

Alessio Micheletto

3

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24 April 2020

Sandra Perobelli

4

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24 April 2020

Emily Pintani

5

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24 April 2020

Emanuela Maserati

7

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Elena Nicolis

8

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24 April 2020

Cesare Danesino

9

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24 April 2020

Italian Registry Organization

10

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language of work or name

English

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publication date

17 January 2019

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24 April 2020

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volume

9

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issue

1

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page(s)

e022617

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Smoothing reference centile curves: the LMS method and penalized likelihood

24 April 2020

cites work

1 reference

12 December 2020

Psychological characteristics of children with Shwachman syndrome

1 reference

12 December 2020

The LMS method for constructing normalized growth standards

1 reference

12 December 2020

Shwachman's syndrome. A review of 21 cases

1 reference

12 December 2020

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

1 reference

12 December 2020

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome

1 reference

12 December 2020

Shwachman's syndrome: pathomorphosis and long-term outcome

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12 December 2020

Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment

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12 December 2020

Shwachman-Diamond syndrome: clinical phenotypes

1 reference

12 December 2020

Shwachman-Diamond syndrome

1 reference

12 December 2020

Shwachman-Diamond syndrome: report from an international conference

1 reference

12 December 2020

Mutations in SBDS are associated with Shwachman-Diamond syndrome

1 reference

12 December 2020

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

1 reference

12 December 2020

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

1 reference

12 December 2020

The WHO Multicentre Growth Reference Study: planning, study design, and methodology

1 reference

12 December 2020

Identification of novel mutations in patients with Shwachman-Diamond syndrome

1 reference

12 December 2020

Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation

1 reference

12 December 2020

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

1 reference

12 December 2020

Validation of growth charts for girls with Turner syndrome

1 reference

12 December 2020

Secular change in adult stature has come to a halt in northern Europe and Italy

1 reference

12 December 2020

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

1 reference

12 December 2020

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

1 reference

12 December 2020

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment

1 reference

12 December 2020

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function

1 reference

12 December 2020

Growth charts for children with Ellis-van Creveld syndrome.

1 reference

12 December 2020

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

1 reference

12 December 2020

Shwachman-Diamond syndrome

1 reference

12 December 2020

Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients

1 reference

12 December 2020

Use of national and international growth charts for studying height in European children: development of up-to-date European height-for-age charts

1 reference

12 December 2020

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype

1 reference

12 December 2020

Growth charts for Chinese Down syndrome children from birth to 14 years

1 reference

12 December 2020

Growth charts for individuals with Rubinstein-Taybi syndrome.

1 reference

12 December 2020

Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach

1 reference

12 December 2020

Growth Charts for Children With Down Syndrome in the United States

1 reference

12 December 2020

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

1 reference

12 December 2020

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

1 reference

12 December 2020

Disease-modifying drug therapy in cystic fibrosis

1 reference

12 December 2020

Growth charts for Australian children with achondroplasia.

1 reference

12 December 2020

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

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12 December 2020

10.1136/BMJOPEN-2018-022617

Identifiers

DOI

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24 April 2020

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24 April 2020

PubMed publication ID

30782681

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