(Q33674539)

28 July 2017

Lethal congenital contracture syndrome: further delineation and genetic aspects (English)

1 reference

lethal congenital contracture syndrome

28 July 2017

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author name string

Vuopala K

series ordinal

1

1 reference

PubMed ID

7966188

28 July 2017

Herva R

series ordinal

2

1 reference

PubMed ID

7966188

28 July 2017

language of work or name

English

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publication date

1 July 1994

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Journal of Medical Genetics

28 July 2017

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28 July 2017

31

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28 July 2017

7

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28 July 2017

521-527

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Chromosomal localization of the human ciliary neurotrophic factor gene (CNTF) to 11q12 by fluorescence in situ hybridization

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Arthrogryposis multiplex congenita: An autopsy case of a fatal 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=1049973

Spontaneous abortions in hospital staff engaged in sterilising instruments with chemical agents.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

The Pena-Shokeir syndrome: report of five cases and further delineation of the 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=1049973

A simple method of estimating the segregation ratio under complete ascertainment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

A lethal autosomal recessive syndrome of multiple congenital contractures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Motoneuronal death during human fetal development.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Novel non-isotopic in situ hybridization technique detects small (1 Kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and beta-NGF genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

The nerve growth factor receptor gene is at human chromosome region 17q12-17q22, distal to the chromosome 17 breakpoint in acute leukemias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

A moderately frequent HindIII polymorphism at the human NGFR locus (17q12----17q22)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Ciliary neurotrophic factor prevents the degeneration of motor neurons after axotomy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Chromosomal mapping of brain-derived neurotrophic factor and neurotrophin-3 genes in man and mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

The human BDNF gene maps between FSHB and HVBS1 at the boundary of 11p13-p14.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Brain-derived neurotrophic factor rescues developing avian motoneurons from cell death

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

A second-generation linkage map of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Brain-derived neurotrophic factor rescues spinal motor neurons from axotomy-induced cell death

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Signalling through the MHC class II cytoplasmic domain is required for antigen presentation and induces B7 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=1049973

A syndrome of ankylosis, facial anomalies and pulmonary hypoplasia secondary to fetal neuromuscular dysfunction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia: a pathologic analysis of one infant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Pulmonary hypoplasia: lung weight and radial alveolar count as criteria of diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049973

Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy

21 June 2018

1 reference

12 December 2020

Genetic aspects of arthrogryposis

1 reference

12 December 2020

Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects

1 reference

12 December 2020

Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis Bar syndrome

1 reference

12 December 2020

Assignment of human nerve growth factor receptor gene to chromosome 17 and regulation of receptor expression in somatic cell hybrids

1 reference

12 December 2020

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures

1 reference

12 December 2020

Pathologic features in two siblings with the Pena-Shokeir I syndrome

1 reference

12 December 2020

Two thyroid hormone regulated genes, the beta-subunits of nerve growth factor (NGFB) and thyroid stimulating hormone (TSHB), are located less than 310 kb apart in both human and mouse genomes

1 reference

12 December 2020

[Characteristic of recent fetal growth curves in Finland]

1 reference

12 December 2020

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

12 December 2020

Two Cases of Fetal Akinesia/Hypokinesia Sequence

1 reference

12 December 2020

A hydropic fetus with translucent ribs, arthrogryposis multiplex congenita and congenital myopathy: etiological heterogeneity of A.M.C., Toriello-Bauserman type?

1 reference

12 December 2020

Lethal Pena-Shokeir 1 syndrome in three male siblings

1 reference

12 December 2020

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

1 reference

12 December 2020

Arthrogryposis multiplex congenita

1 reference

12 December 2020

Arthrogryposis multiplex congenita: A clinical investigation

1 reference

12 December 2020

Three "myosin adenosine triphosphatase" systems: the nature of their pH lability and sulfhydryl dependence

1 reference

12 December 2020

Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition

1 reference

12 December 2020

Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia

1 reference

12 December 2020

'Pena-Shokeir syndrome' in a newborn male infant

1 reference

12 December 2020

The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis

1 reference

12 December 2020

Is Kugelberg-Welander spinal muscular atrophy a fetal defect?

1 reference

12 December 2020

Fetal akinesia deformation sequence: an animal model

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.7.521

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

7966188