Lethal congenital contracture syndrome: further delineation and genetic aspects (Q33674539)

28 July 2017

title

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

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lethal congenital contracture syndrome

28 July 2017

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author name string

Vuopala K

series ordinal

1

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28 July 2017

Herva R

series ordinal

2

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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

published in

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28 July 2017

volume

31

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28 July 2017

issue

7

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28 July 2017

page(s)

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

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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

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21 June 2018

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A lethal autosomal recessive syndrome of multiple congenital contractures

21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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12 December 2020

Genetic aspects of arthrogryposis

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12 December 2020

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

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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

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12 December 2020

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures

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12 December 2020

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

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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

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12 December 2020

[Characteristic of recent fetal growth curves in Finland]

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12 December 2020

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

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12 December 2020

Two Cases of Fetal Akinesia/Hypokinesia Sequence

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12 December 2020

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

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12 December 2020

Lethal Pena-Shokeir 1 syndrome in three male siblings

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12 December 2020

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

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12 December 2020

Arthrogryposis multiplex congenita

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12 December 2020

Arthrogryposis multiplex congenita: A clinical investigation

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia

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12 December 2020

'Pena-Shokeir syndrome' in a newborn male infant

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12 December 2020

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

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12 December 2020

Is Kugelberg-Welander spinal muscular atrophy a fetal defect?

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12 December 2020

Fetal akinesia deformation sequence: an animal model

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12 December 2020

Identifiers

DOI

10.1136/JMG.31.7.521

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28 July 2017

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28 July 2017

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