(Q33671897)

28 July 2017

Necropsy findings in neonatal asphyxiating thoracic dystrophy (English)

1 reference

28 July 2017

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Turkel SB

1

1 reference

28 July 2017

Diehl EJ

series ordinal

2

1 reference

28 July 2017

Richmond JA

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1985

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

22

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28 July 2017

2

1 reference

28 July 2017

112-118

1 reference

Asphyxiating thoracic dystrophy with familial characteristics

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Asphyxiant thoracic dystrophy (Jeune syndrome). Clinical and medico-legal aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

"New" skeletal dysplasias in the newborn: new X-ray findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Jeune thoracic dysplasia--a spectrum of disorders?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Short rib-polydactyly syndromes and related conditions.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Fine structure of skeletal dysplasia as seen in pseudoachondroplastic spondyloepiphyseal dysplasia and asphyxiating thoracic dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

"Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Asphyxiating Thoracic Dystrophy (Jeune's Disease) with Retinal Aplasia: A Sibship of Two

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Asphyxiating thoracic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Asphyxiating thoracic dystrophy in a teenager

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Neonatal death dwarfism. (A further report)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Link-proteins and non-collagenous proteins from normal and chondrodysplastic cartilages

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

[Jeune syndrome (thoraco-pelvo-phalangeal dystrophy, asphyxiating thoracic dystrophy)]

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Renal lesion in Jeune's syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

Lethal short-limbed chondrodysplasia in early infancy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049394

30 October 2018

1 reference

12 December 2020

[Asphyxiant thoracic dystrophy]

1 reference

12 December 2020

Infantile thoracic dystrophy—a variant of Ellis-Van Creveld syndrome

1 reference

12 December 2020

Asphyxiating thoracic dystrophy. Malformation of the newborn

1 reference

12 December 2020

[Asphyxiating thoracic dystrophy in the infant.]

1 reference

12 December 2020

CHONDRODYSTROPHY WITH THORACIC PREDOMINANCE: 2 CASES

1 reference

12 December 2020

Dystrophic thoraces and infantile asphyxia

1 reference

12 December 2020

Lung structure in thoracic dystrophy

1 reference

12 December 2020

[Polychondrodystrophy with fatal throacic blockage]

1 reference

12 December 2020

The renal disease of thoracic asphyxiant dystrophy

1 reference

12 December 2020

Anatomopathologic contribution to asphyxiating thoracic dystrophy of the infant (Jeune's disease) and considerations of the therapeutic usefulness of surgical intervention on the ribs

1 reference

12 December 2020

Familial asphyctic thorax dystrophy (Jeune's disease)

1 reference

12 December 2020

[Jeune's thoracic dystrophy]

1 reference

12 December 2020

On a new case of asphyxial throacic dystrophy (Jeune's disease). Clinical, radiological and genetic considerations)

1 reference

12 December 2020

Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism

1 reference

12 December 2020

Asphyxiating thoracic dystrophy of the newborn

1 reference

12 December 2020

The Thoracic Asphyxiant Dystrophy and Renal Disease

1 reference

12 December 2020

Morphometric analysis of liver lesions in cystic diseases of childhood

1 reference

12 December 2020

Bone maturation in asphyxiating thoracic dysplasia and diastrophic dwarfism in the neonatal period (author's transl)

1 reference

12 December 2020

Identifiers

0 references

1 reference

28 July 2017

1 reference