Natural history of aging in Cornelia de Lange syndrome (Q36886238)

16 August 2017

1 reference

title

Natural history of aging in Cornelia de Lange syndrome (English)

1 reference

16 August 2017

3

Paul Sponseller

1 reference

16 August 2017

Antonie D Kline

1

1 reference

16 August 2017

Marco Grados

2

1 reference

16 August 2017

Howard P Levy

4

1 reference

16 August 2017

Natalie Blagowidow

5

1 reference

16 August 2017

Christianne Schoedel

6

1 reference

16 August 2017

Joni Rampolla

7

1 reference

16 August 2017

Douglas K Clemens

8

1 reference

16 August 2017

Ian Krantz

9

1 reference

16 August 2017

Amy Kimball

10

1 reference

16 August 2017

Carmen Pichard

11

1 reference

16 August 2017

David Tuchman

12

1 reference

16 August 2017

1 August 2007

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

16 August 2017

1 reference

16 August 2017

145C

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16 August 2017

248-260

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16 August 2017

3

1 reference

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Molecular bases of progeroid syndromes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Clinical consequences of silent gastroesophageal reflux disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Hematometra in a patient with Cornelia De Lange syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Extraoesophageal manifestations of gastro-oesophageal reflux

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Behavioural phenotype of Cornelia de Lange syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Adenocarcinoma of the esophagus complicating Cornelia de Lange syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

de Lange syndrome: a clinical review of 310 individuals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Developmental data on individuals with the Brachmann-de Lange syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Neuropathological analysis of an adult case of the Cornelia de Lange syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

On the variable expression of the Brachmann-de Lange syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

The hand profile on de Lange syndrome: diagnostic criteria

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Clinical features of 78 adults with 22q11 Deletion Syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

A Korean case of Cornelia de Lange syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Oral health of children with gastro-esophageal reflux disease: a controlled study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Diagnosis and treatment of feeding disorders in children with developmental disabilities.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Barrett's esophagus in a child with de Lange syndrome: report of one case.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

A case of Brachman de Lange syndrome with cerebellar vermis hypoplasia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Primary cutis verticis gyrata or pachydermia verticis gyrata: a peculiar scalp disorder of mentally retarded adult males.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Cecal volvulus in the Cornelia de Lange syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4902018

Direct nasopharyngeal reflux of gastric acid is a contributing factor in refractory chronic rhinosinusitis

4 September 2018

1 reference

12 December 2020

Anomalies of the kidney and urinary tract are common in de Lange syndrome

1 reference

12 December 2020

High prevalence of isolated pericardial effusion in Down syndrome

1 reference

12 December 2020

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome

1 reference

12 December 2020

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

1 reference

12 December 2020

Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome

1 reference

12 December 2020

Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia

1 reference

12 December 2020

Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report

1 reference

12 December 2020

Growth manifestations in the Brachmann-de Lange syndrome

1 reference

12 December 2020

Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome

1 reference

12 December 2020

[Cecal volvulus as a complication in Cornelia de Lange syndrome. A case report and literature review]

1 reference

12 December 2020

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

1 reference

12 December 2020

Cornelia de Lange syndrome associated with cecal volvulus: report of a case

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.C.30137

1 reference

16 August 2017

1 reference

16 August 2017

1 reference