(Q53663543)

English

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

scientific article published in September 2005

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scholarly article

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

1 reference

Europe PubMed Central

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. (English)

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Cornelia de Lange syndrome

1 reference

based on heuristic

inferred from title

author name string

Cheryl DeScipio

1

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Maninder Kaur

2

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Dinah Yaeger

3

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Jeffrey W Innis

4

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Nancy B Spinner

5

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Laird G Jackson

6

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

Ian D Krantz

7

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

language of work or name

0 references

publication date

1 September 2005

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

American Journal of Medical Genetics

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

137A

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

276-282

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Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

3

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Fully automatic quantification of microarray image data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Assembly of microarrays for genome-wide measurement of DNA copy number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

CALL gene is haploinsufficient in a 3p- syndrome patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Partial trisomy 3q causing mild Cornelia de Lange phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Brachmann-de Lange syndrome. 1994 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Inherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally: frequency, parental-age associations, sex-ratio trends, and comparisons with rates of mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

The Cornelia de Lange syndrome: clinical and cytogenetic interpretations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Cornelia de Lange syndrome with ring chromosome 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

The association of chromosome 3 duplication and the Cornelia de Lange syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

22 May 2018

TRANSLOCATION IN DE LANGE'S SYNDROME?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

13 August 2018

DE LANGE'S AMSTERDAM DWARFS SYNDROME. REPORT OF FOUR CASES.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

13 August 2018

Chromosomal anomaly associated with Cornelia de Lange's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896149

13 August 2018

Minute chromosomal rearrangements detected prenatally by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomes in the Cornelia de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[CHROMOSOME STUDY ON TYPUS DEGENERATIVUS AMSTELODAMENSIS (DE LANGE'S SYNDROME).]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Cornelia De Lange syndrome. Study of 2 siblings, children of a diabetic mother

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A re-investigation of an inherited chromosome aberration in a girl with signs of De Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

D/D balanced translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cornelia de Lange's syndrome. 4 neonatal cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TYPUS DEGENERATIVUS AMSTELODAMENSIS OR THE CORNELIA DE LANGE SYNDROME

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[XY-XO mosaicism in a case of Cornelia De Lange syndrome]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075459

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.30857

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

1 reference

Europe PubMed Central

17 May 2018

http://europepmc.org/abstract/PMC/4896149

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