(Q24680383)

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A Calì

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G Coucourde

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G Pastore

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S Cavani

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F Zara

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J Overhauser

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M Pierluigi

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F D Bricarelli

Journal of Medical Genetics

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language of work or name

English

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publication date

March 2001

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published in

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volume

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issue

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page(s)

151-8

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cites work

Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval

1 reference

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Presenilin 1 interaction in the brain with a novel member of the Armadillo family

7 April 2017

1 reference

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Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library

7 April 2017

1 reference

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 April 2017

1 reference

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Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome

7 April 2017

1 reference

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3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME

7 April 2017

1 reference

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Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

28 September 2017

1 reference

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5p14 deletion associated with microcephaly and seizures

28 September 2017

1 reference

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A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis

28 September 2017

1 reference

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Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.

28 September 2017

1 reference

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Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

28 September 2017

1 reference

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Five novel genes from the cri-du-chat critical region isolated by direct selection

28 September 2017

1 reference

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Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

28 September 2017

1 reference

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Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype

28 September 2017

1 reference

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Molecular approach to analyzing the human 5p deletion syndrome, cri du chat

28 September 2017

1 reference

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The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Cri du chat syndrome: changing phenotype in older patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Clinical heterogeneity in 80 home-reared children with cri du chat syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

The cri du chat syndrome in adolescents and adults: Clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Terminal deletion of the short arm of chromosome 5.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

The Denver II: a major revision and restandardization of the Denver Developmental Screening Test

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Anthropometry in the Cri du Chat syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Psychomotor development in Cri du Chat Syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Cognitive functioning in children with typical cri du chat (5p-) syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Validation of an early language milestone scale in a high-risk population

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Malformation syndromes--a diagnostic approach

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

28 November 2018

Familial 5p- syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734829

Cytologic observations in 35 individuals with a 5p- karyotype

28 November 2018

1 reference

12 December 2020

5 cases of cri-du-chat syndrome

1 reference

12 December 2020

The cat cry syndrome (5p-) in adolescents and adults

1 reference

12 December 2020

FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome

1 reference

12 December 2020

Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

1 reference

12 December 2020

Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.3.151

1 reference

release_pmfmkqodojawjapqxyctf7wn7u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pmfmkqodojawjapqxyctf7wn7u

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

11238681

1 reference