(Q36093146)

12 August 2017

Morphologic studies in the skeletal dysplasias (English)

1 reference

12 August 2017

3

Rimoin DL

1 reference

12 August 2017

D. O. Sillence

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

4 July 2022

W. A. Horton

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

4 July 2022

D. L. Rimoin

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

4 July 2022

language of work or name

English

0 references

publication date

1 September 1979

1 reference

full work available at URL

12 August 2017

http://ajp.amjpathol.org/cgi/content/abstract/96/3/813

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/474720/?tool=EBI

4 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/474720/pdf/?tool=EBI

4 July 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

https://europepmc.org/articles/PMC2042401

4 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

https://europepmc.org/articles/PMC2042401?pdf=render

4 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A474720

The American Journal of Pathology

4 July 2022

published in

1 reference

12 August 2017

96

1 reference

12 August 2017

3

1 reference

12 August 2017

813-870

1 reference

A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

METAPHYSIAL DYSOSTOSIS, TYPE SCHMID.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

MUCOPOLYSACCHARIDOSIS: PAPER ELECTROPHORETIC AND INFRA-RED ANALYSIS OF THE URINE IN GARGOYLISM AND MORQUIO-ULLRICH'S DISEASE.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Congenital blepharophimosis associated with a unique generalized myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Asphyxiating thoracic dystrophy with familial characteristics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Dysplasia epiphysialis punctata; report of a case and review of literature.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Congenital stippled epiphyses

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Inheritance of multiple epiphyseal dysplasia, tarda

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 October 2017

Fatal neonatal dwarfism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

An unusual bone dysplasia: parastremmatic dwarfism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A low-viscosity epoxy resin embedding medium for electron microscopy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Achondrogenesis: Case report and review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Polysyndactyly, short limbs, and genital malformations--a new syndrome?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

The genetics of short stature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Congenital bowing of the long bones in two sisters

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Chondrodysplasia punctata and maternal warfarin use during pregnancy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Short rib-polydactyly syndrome type 3.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Spondyloepiphyseal dysplasias

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 October 2017

The chondrodystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Structure and function of the growth plate

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A Case of Short Rib Polydactyly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Pseudoachondroplastic dysplasia: five cases representing clinical, roentgenographic and histologic heterogeneity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Histochemical characterization of the endochondral growth plate: a new approach to the study of the chondrodystrophies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Kniest syndrome with dominant inheritance and mucopolysacchariduria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Gel Electrophoretic Studies on Proteoglycans and Collagen of Abnormal Human Growth Cartilage: Proteoglycan Abnormalities in Pseudoachondroplasia and in Kniest's Disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Science and Art in Preparing Tissues Embedded in Plastic for Light Microscopy, with Special Reference to Glycol Methacrylate, Glass Knives and Simple Stains

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Metaphyseal dysostosis and congenital pancreatic insufficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Achondroplasia--a genetic and statistical survey

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

[Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type]

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Radiographic diagnosis of neonatal short-limbed dwarfism

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

[Disease picture of congenital bowing of long bones]

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A rare lethal bone dysplasia with recessive autosomic transmission

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Familial recurring thanatophoric dwarfism. A case report.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Genetic study of thanatophoric dwarfism

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Achondrogenesis in two sibs

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A lethal form of diastrophic dwarfism

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Pathology of chondrodysplasia punctata rhizomelic type

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

The so-calle "Cloverleaf Skull Syndrome". A report of three cases with a discussion of its relationships with thanatophoric dwarfism and the craniostenoses.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

A proposed classification for craniofacial malformations.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

The campomelic syndrome--comments.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

New case of thanatophoric dwarfism associated with cloverleaf skull

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Congenital absence of the fibula and craniosynostosis in sibs

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Spondylometaphyseal dysplasia (Brazilian type).

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Ultrastructure of cartilage in chondrodystrophies.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Histologic studies in the chondrodystrophies.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Histopathology and ultrastructure of cartilage in the chondrodystrophies.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Stickler syndrome in a pedigree of Pierre Robin syndrome.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Reversal of protein blocking of basophilia in salt solutions: implications in the localization of polyanions using alcian blue

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Thymic aplasia with lymphopenia, plasma cells, and normal immunoglobulins. Relation to measles virus infection

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Ultrastructure of benign peripheral nerve sheath tumors.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Glycol methacrylate in light microscopy: a routine method for embedding and sectioning animal tissues.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

An investigation of ageing in human costal cartilage

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Morphologic observations on four cases of SED congenita.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Autosomal recessive inheritance in camptomelic dwarfism.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Familial thanatophoric dwarfism.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2042401

Mesomelic skeletal dysplasias

2 July 2018

1 reference

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Metaphyseal and spondylometaphyseal chondrodysplasias

2 July 2018

1 reference

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The epiphyseal dysplasias

2 July 2018

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2 July 2018

1 reference

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Chondrodysplasia punctata-23 cases of a mild and relatively common variety

2 July 2018

1 reference

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The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency

2 July 2018

1 reference

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Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

2 July 2018

1 reference

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Chondro-osseous pathology in the chondrodystrophies.

2 July 2018

1 reference

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The phenotypic variability of diastrophic dysplasia

2 July 2018

1 reference

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A radiographic study of the human fetal spine. 2. The sequence of development of ossification centres in the vertebral column

2 July 2018

1 reference

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2 July 2018

Neonatal death dwarfism

1 reference

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Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

2 July 2018

1 reference

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Histochemical and ultrastructural demonstration of gamma-glutamyl transpeptidase activity.

2 July 2018

1 reference

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Unusual bone changes in thymic alymphoplasia

23 September 2018

1 reference

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Cloverleaf skull and micromelic dwarfism (author's transl)

23 September 2018

1 reference

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Lethal short-limbed chondrodysplasia in early infancy

23 September 2018

1 reference

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Substituted naphthol AS phosphate derivatives for the localization of leukocyte alkaline phosphatase activity

23 September 2018

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12 December 2020

METAPHYSEAL DYSOSTOSIS. REPORT OF FIVE FAMILIAL AND TWO SPORADIC CASES OF A MILD TYPE

1 reference

12 December 2020

DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES

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12 December 2020

DWARFISM IN THE AMISH

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12 December 2020

DIASTROPHIC DWARFISM IN EARLY INFANCY

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12 December 2020

SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT

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12 December 2020

ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME

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12 December 2020

METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

Familial bone disease resembling rickets (hereditary metaphysial dysostosis)

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12 December 2020

Metaphyseal chondrodysplasia of Jansen

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12 December 2020

[Case of congenital disease of dotted epiphyses]

1 reference

12 December 2020

[Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias.]

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12 December 2020

[Pathological anatomy of chondro-ectodermal dysplasia of Ellis van Creveld]

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12 December 2020

Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases

1 reference

12 December 2020

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12 December 2020

Dysplasia epiphysialis punctata; report of a case with discussion

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12 December 2020

Dysplasia epiphysialis multiplex in three sisters

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12 December 2020

[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]

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12 December 2020

Multiple epiphysial dysplasia: a report of four cases

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12 December 2020

Congenital stippled epiphyses

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12 December 2020

Chondrodystrophia calcificans congenita; case report with autopsy findings

1 reference

12 December 2020

Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases

1 reference

12 December 2020

Heterogeneity in the campomelic syndromes: long and short bone varieties

1 reference

12 December 2020

Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease

1 reference

12 December 2020

Hyaline cartilage changes in diastrophic dwarfism

1 reference

12 December 2020

The effect of proteolytic enzymes and hyaluronidase on the intracellular beta- and gamma-metachromatic granules and the matrix of rat epiphyseal cartilage

1 reference

12 December 2020

SIMULTANEOUS DIFFERENTIAL STAINING BY A CATIONIC CARBOCYANINE DYE OF NUCLEIC ACIDS, PROTEINS AND CONJUGATED PROTEINS II. CARBOHYDRATE AND SULFATED CARBOHYDRATE-CONTAINING PROTEINS

1 reference

12 December 2020

Histochemical studies on tibial growing cartilage in polyepiphysial dysplasia (Feirbank disease, Müller-Ribbing-Krankheit)

1 reference

12 December 2020

The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions

1 reference

12 December 2020

Ocular involvement in chondrodysplasia punctata

1 reference

12 December 2020

Schwartz syndrome: Myotonia with blepharophimosis and limitation of joints

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12 December 2020

Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle

1 reference

12 December 2020

The VSR syndrome. Studies of malformation syndromes of man XXXII

1 reference

12 December 2020

The renal disease of thoracic asphyxiant dystrophy

1 reference

12 December 2020

The Dyggve-Melchior-Clausen syndrome

1 reference

12 December 2020

Parastremmatic dwarfism

1 reference

12 December 2020

Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings

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12 December 2020

[International nomenclature of constitutional diseases of bones]

1 reference

12 December 2020

The Thoracic Asphyxiant Dystrophy and Renal Disease

1 reference

12 December 2020

Spondyloepiphyseal Dysplasia Congenita

1 reference

12 December 2020

Letter: Thanatophoric dwarfism in triplets

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12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia

1 reference

12 December 2020

The ultrastructure of the epiphyseal plate. II. The hypertrophic chondrocyte

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12 December 2020

Pseudoachondroplastic dwarfism. A rough-surfaced endoplasmic reticulum storage disorder

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12 December 2020

[Abnormalities of proteoglycans in growth cartilage in pseudo-achondroplasia]

1 reference

12 December 2020

Difficulties in the classification of the epiphyseal dysplasias

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12 December 2020

1 reference

12 December 2020

A variant of campomelia

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12 December 2020

[Classification of osseous dysplasia]

1 reference

12 December 2020

The Dyggve-Melchior-Clausen syndrome

1 reference

12 December 2020

Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one

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12 December 2020

Spondyloepiphyseal dysplasia tarda. A case report

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12 December 2020

The Stickler syndrome

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12 December 2020

1 reference

12 December 2020

Pseudo-achondrogenesis with fractures

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12 December 2020

Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia)

1 reference

12 December 2020

Two types of heritable lethal achondrogenesis

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12 December 2020

The campomelic syndrome. Congenital bowing of limbs and other skeletal and extraskeletal anomalies

1 reference

12 December 2020

Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias

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12 December 2020

[Association of a clover-leaf skull associated with thanaphoric nanism (1st case in Italian literature)]

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12 December 2020

Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases

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12 December 2020

Familial camptomelic dwarfism

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12 December 2020

Thanatophoric Dwarfism and Cloverleaf Skull (“Kleeblattschädel”)

1 reference

12 December 2020

Difficulties in Differentiation between Chondroectodermal Dysplasia (Ellis–van Creveld syndrome) and Asphyxiating Thoracic Dystrophy

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12 December 2020

[A new mesomelic type of dwarfism]

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12 December 2020

The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities

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12 December 2020

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies

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12 December 2020

Endochondral ossification in achondroplastic dwarfism

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12 December 2020

[Acromesomelic dwarfism]

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12 December 2020

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

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12 December 2020

[Thanatophoric dwarfism (an anatomoclinical case)]

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12 December 2020

[Metatrophic dwarfism]

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12 December 2020

Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia

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12 December 2020

Metaphysial dysostosis (Jansen type). Report of a case with long follow-up

1 reference

12 December 2020

1 reference

12 December 2020

The lethal chondrodysplasias

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12 December 2020

Saldino-Noonan short rib-polydactyly dwarfism syndrome;

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12 December 2020

Chondrodysplasis punctata: is maternal warfarin therapy a factor?

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12 December 2020

Achondroplasia and thanatophoric dwarfism in the newborn

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12 December 2020

An unusual cerebral malformation associated with thanatophoric dwarfism

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12 December 2020

Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism

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12 December 2020

Statural deficiency with micromesomelia. Report of 2 familial cases

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12 December 2020

Heterogeneity of Chondrodysplasia punctata

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12 December 2020

[The campomelic syndrome]

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12 December 2020

Abnormality of the Hair in Cartilage-Hair Hypoplasia

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12 December 2020

1 reference

12 December 2020

Cloverleaf Skull and Thanatophoric Dwarfism

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12 December 2020

The tibial growing cartilage biopsy in the study of growth disturbances

1 reference

12 December 2020

Skeletal growth in achondroplasia

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12 December 2020

1 reference

12 December 2020

Metaphyseal Dysostosis of Jansen

1 reference

12 December 2020

Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia

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12 December 2020

Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome

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12 December 2020

[Thanatophoric dwarfism]

1 reference

12 December 2020

Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible Type

1 reference

12 December 2020

[Diastrophic dwarfism]

1 reference

12 December 2020

Hereditary dysplasia epiphysealis multiplex

1 reference

12 December 2020

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome

1 reference

12 December 2020

Asphyxiating thoracic dystrophy of the newborn

1 reference

12 December 2020

Dyschondrosteosis. The most common cause of Madelung's deformity

1 reference

12 December 2020

Spondyloepiphysial dysplasia tarda. Four cases in childhood and adolescence, and some considerations regarding platyspondyly

1 reference

12 December 2020

Identifiers

1 reference

12 August 2017

1 reference