(Q21203037)

Dimensions Publication ID

Dimensions

1043680789

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

5 September 2006

7 references

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

6 July 2020

7 references

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

6 July 2020

1

0 references

issue

1

0 references

page(s)

33

0 references

copyright license

Creative Commons Attribution 2.0 Generic

7 references

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

on focus list of Wikimedia project

6 July 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Deletion of the neuron-specific protein delta-catenin leads to severe cognitive and synaptic dysfunction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Localisation of a gene for chondrocalcinosis to chromosome 5p

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Growth study of cri du chat syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Developmental and behavioural characteristics of cri du chat syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Brain morphometry using MRI in Cri-du-Chat Syndrome. Report of seven cases with review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Marfan and cri du chat syndromes in an 18-month-old child: evidence of phenotype interaction.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Confirmation of a balanced chromosomal translocation using molecular techniques

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Growth charts for cri-du-chat syndrome: an international collaborative study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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=1574300

Correlates of maladaptive behavior in individuals with 5p- (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=1574300

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=1574300

Psychomotor development in 65 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=1574300

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=1574300

Unusual ocular findings in an infant 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=1574300

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=1574300

Skeletal Changes 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=1574300

Discriminant analysis of dermatoglyphic sole and palm patterns in Danish cri du chat probands and normal controls.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Anesthetic considerations in cri du chat syndrome: a report of three cases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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=1574300

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=1574300

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=1574300

[Cri-du-chat syndrome: palmar dermatoglyphics of diagnostic significance]

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Early play behaviour in children with 5p- (Cri-du-Chat) syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Cri-du-chat syndrome associated with arachnoid cyst causing triventricular hydrocephalus

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Psychomotor development in Cri du Chat Syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Antenatal sonographic features of cri-du-chat syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

Anaesthetic considerations for the patient with cri du chat syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1574300

29 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=1574300

Fertility and the cri du chat syndrome

29 November 2018

1 reference

12 December 2020

Fetal choroid plexus cysts in association with cri du chat (5p-) syndrome

1 reference

12 December 2020

A genome-wide search for asthma susceptibility loci in ethnically diverse populations. The Collaborative Study on the Genetics of Asthma (CSGA)

1 reference

12 December 2020

Receptive and expressive language skills in children with cri-du-chat syndrome

1 reference

12 December 2020

Cri-du-chat syndrome diagnosed by amniocentesis performed due to abnormal maternal serum test

1 reference

12 December 2020

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

1 reference

12 December 2020

5 cases of cri-du-chat syndrome

1 reference

12 December 2020

Cytologic observations in 35 individuals with a 5p- karyotype

1 reference

12 December 2020

Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil

1 reference

12 December 2020

The natural history of Cri du Chat Syndrome. A report from the Italian Register

1 reference

12 December 2020

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

1 reference

12 December 2020

Cri-du-chat syndrome: clinical profile and prenatal diagnosis

1 reference

12 December 2020

Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly

1 reference

12 December 2020

Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin

1 reference

12 December 2020

Mosaic Cri du Chat syndrome in a patient exhibiting three 5p cell lines

1 reference

12 December 2020

Ocular Abnormalities in the Cri Du Chat Syndrome

1 reference

12 December 2020

Prenatal diagnosis of minute 5p- deletion: a cytogenetic problem in detection

1 reference

12 December 2020

[Cri-du-chat disease: plasma and urinary amino acids]

1 reference

12 December 2020

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Prospective maternal serum human chorionic gonadotropin screening for the risk of fetal chromosome anomalies and of subsequent fetal and neonatal deaths

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-1-33

1 reference

Dimensions Publication ID

1043680789

0 references

Fatcat ID

release_scxo3njb5rf5pehzublfgkdyna

0 references

1 reference

1 reference

PubMed publication ID

16953888

1 reference