Mulibrey nanism: clinical features and diagnostic criteria (Q34294339)

1 August 2017

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title

Mulibrey nanism: clinical features and diagnostic criteria (English)

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1 August 2017

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Karlberg N

1

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1 August 2017

Jalanko H

series ordinal

2

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1 August 2017

Perheentupa J

series ordinal

3

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1 August 2017

Lipsanen-Nyman M

series ordinal

4

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1 August 2017

language of work or name

English

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publication date

1 February 2004

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Journal of Medical Genetics

1 August 2017

published in

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1 August 2017

volume

41

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1 August 2017

issue

2

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1 August 2017

page(s)

92-98

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A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Mulibrey nanism: three additional patients and a review of 39 patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

The cardiopathy of mulibrey nanism, a new inherited syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

So-called mulibrey nanism with pericardial constriction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Dysfunctional swallowing in the pediatric patient: clinical considerations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Coordination of sucking, swallowing and breathing in the newborn: its relationship to infant feeding and normal development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

The development of normal feeding and swallowing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Phenotypic and genetic analysis of the Silver-Russell syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Craniofacial and dental study of mulibrey nanism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Growth failure with pericardial constriction. The syndrome of mulibrey nanism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735664

A case of Mulibrey nanism with associated Wilms' tumor

28 October 2018

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12 December 2020

[Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome]

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12 December 2020

Refsum's disease revealed by cardiac disorders

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12 December 2020

Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

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12 December 2020

Natural growth in children born small for gestational age with and without catch-up growth

1 reference

12 December 2020

Children born small for gestational age: do they catch up?

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12 December 2020

Mulibrey nanism and Wilms tumor

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2003.014118

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1 August 2017

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1 August 2017

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