(Q55056294)

16 June 2018

title

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. (English)

1 reference

16 June 2018

main subject

Coffin-Siris syndrome

1 reference

Samantha A Schrier

1

1 reference

16 June 2018

Joann N Bodurtha

2

1 reference

16 June 2018

Barbara Burton

3

1 reference

16 June 2018

Albert E Chudley

4

1 reference

16 June 2018

Mary Anne D Chiong

5

1 reference

16 June 2018

Maria Gabriella D'avanzo

6

1 reference

16 June 2018

Sally Ann Lynch

7

1 reference

16 June 2018

Antonio Musio

8

1 reference

16 June 2018

Dmitriy M Nyazov

9

1 reference

16 June 2018

Pedro A Sanchez-Lara

10

1 reference

16 June 2018

Stavit A Shalev

11

1 reference

16 June 2018

Matthew A Deardorff

12

1 reference

16 June 2018

language of work or name

English

0 references

publication date

18 June 2012

1 reference

16 June 2018

American Journal of Medical Genetics

published in

1 reference

16 June 2018

volume

158A

1 reference

16 June 2018

issue

8

1 reference

16 June 2018

page(s)

1865-1876

1 reference

16 June 2018

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Nicolaides-Baraitser syndrome: Delineation of the phenotype

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Further delineation of the DOOR syndrome.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Candidate region for Coffin-Siris syndrome at 7q32-->34.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Molecular models for vertebrate limb development

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Brachymorphism-onychodysplasia-dysphalangism syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Childhood Autism in a female with Coffin Siris Syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

The Coffin-Siris syndrome: report of a family and further delineation.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Mental retardation, cataracts, and unexplained hyperphosphatasia

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Hyperphosphatasia with mental retardation.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Medulloblastoma in association with the Coffin-Siris syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Partial trisomy 9 with resemblance to Coffin-Siris syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

The Coffin-Siris syndrome: five new cases including two siblings

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Upper gastrointestinal malformations in Coffin-Siris syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Diaphragmatic hernia in the Coffin-Siris syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Ocular anomalies in Coffin-Siris syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Coffin-Siris syndrome. Neuropathologic findings

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

12;14 translocation in Coffin Siris syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402612

The Coffin-Siris syndrome in two siblings

30 November 2018

1 reference

12 December 2020

Dandy-Walker variant in Coffin-Siris syndrome

1 reference

12 December 2020

Hypoglycemia in Coffin-Siris syndrome

1 reference

12 December 2020

Is this the Coffin-Siris syndrome or the BOD syndrome?

1 reference

12 December 2020

New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome

1 reference

12 December 2020

Choanal atresia in two unrelated patients with the Coffin-Siris syndrome

1 reference

12 December 2020

Premature thelarche in Coffin-Siris syndrome

1 reference

12 December 2020

A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene

1 reference

12 December 2020

Impaired growth and onychodysplasia. Short children with tiny toenails

1 reference

12 December 2020

Neuroblastoma in a patient with Coffin-Siris syndrome

1 reference

12 December 2020

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome

1 reference

12 December 2020

Coffin‐Lowry syndrome in sibs

1 reference

12 December 2020

Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome

1 reference

12 December 2020

Partial ATRX gene duplication causes ATR-X syndrome

1 reference

12 December 2020

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35415

1 reference

16 June 2018

release_7vlyhatvvnas7fpwp7pgiusc2u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7vlyhatvvnas7fpwp7pgiusc2u

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3402612

1 reference

16 June 2018

PubMed publication ID

22711679

1 reference

16 June 2018