(Q33677009)

28 July 2017

1 reference

title

Malformation syndromes: a review of mouse/human homology (English)

1 reference

28 July 2017

Winter RM

1

1 reference

PubMed ID

3050095

28 July 2017

language of work or name

English

0 references

publication date

1 July 1988

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

25

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28 July 2017

480-487

1 reference

28 July 2017

7

1 reference

A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

Congenital craniofacial malformations: Issues and perspectives

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic 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=1050525

Distribution of anomalous lysosomes in the beige mouse: a homologue of Chediak-Higashi 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=1050525

Tetra-amelia with multiple malformations in six male fetuses of one kindred.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

The mouse skeletal mutants: models for the human skeletal dysplasias.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

Animal model: skeletal anomalies in mice with cleidocranial dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

Chromosome maps of man and mouse, III.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

A combinatorial method for grouping cases with multiple malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

Genetic basis for a mouse model of Down 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=1050525

21 June 2018

The chondrodystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

The Control of Differentiation by the T Complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

'Wasted', a new mutant of the mouse with abnormalities characteristic to ataxia telangiectasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050525

A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies

30 October 2018

1 reference

12 December 2020

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

1 reference

12 December 2020

Fragilitas ossium: a new autosomal recessive mutation in the mouse

1 reference

12 December 2020

Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing

1 reference

12 December 2020

[The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen]

1 reference

12 December 2020

The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency

1 reference

12 December 2020

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

1 reference

12 December 2020

Polydactyly Nagoya, Pdn: A new mutant gene in the mouse

1 reference

12 December 2020

Dactylaplasia in mice a two-locus model for development anomalies

1 reference

12 December 2020

Report of the Committee on Comparative Mapping

1 reference

12 December 2020

Restrictive dermopathy and report of another case

1 reference

12 December 2020

Identifiers

PMCID

1050525

1 reference

28 July 2017

1 reference

PubMed ID

3050095