(Q45961186)

18 December 2017

title

Postmortem findings in the Coffin-Lowry Syndrome. (English)

1 reference

18 December 2017

author name string

Grange S Coffin

series ordinal

1

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18 December 2017

language of work or name

English

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publication date

1 May 2003

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18 December 2017

published in

Genetics in Medicine

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18 December 2017

volume

5

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18 December 2017

issue

3

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18 December 2017

page(s)

187-193

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18 December 2017

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome

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Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

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A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

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New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

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"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome

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Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome

21 January 2018

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Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

21 January 2018

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Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene

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Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3

21 January 2018

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Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

21 January 2018

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Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation

21 January 2018

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Altered extracellular signal-regulated kinase signaling and glycogen metabolism in skeletal muscle from p90 ribosomal S6 kinase 2 knockout mice

21 January 2018

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Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

21 January 2018

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RSK2 represses HSF1 activation during heat shock

21 January 2018

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Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

21 January 2018

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A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome

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Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.

21 January 2018

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Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement

21 January 2018

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Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded

21 January 2018

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Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin-Lowry syndrome

21 January 2018

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Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam

21 January 2018

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Callosal dysgenesis in a patient with Coffin-Lowry syndrome

21 January 2018

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Cardiac involvement in Coffin-Lowry syndrome

21 January 2018

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Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans

21 January 2018

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Abnormal proteodermatan sulfate in three patients with Coffin-Lowry syndrome

21 January 2018

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Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene

21 January 2018

1 reference

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Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis

21 January 2018

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Perspectives: signal transduction. Cell survival demands some Rsk

21 January 2018

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10.1097/01.GIM.0000067991.73943.4F

21 January 2018

Identifiers

DOI

1 reference

18 December 2017

1 reference

18 December 2017