(Q33676134)

28 July 2017

title

Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. (English)

1 reference

28 July 2017

Lynch SA

1 reference

28 July 2017

Ashcroft KA

1 reference

28 July 2017

Zwolinski S

1 reference

28 July 2017

Clarke C

1 reference

28 July 2017

Burn J

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

28 July 2017

page(s)

227-230

1 reference

Three patients with ring (X) chromosomes and a severe phenotype

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Maternal uniparental disomy of chromosome 13 in a phenotypically normal child

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Genomic imprinting: review and relevance to human diseases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

De novo (11;13) translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050324

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7783176

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A case of (13q;18q) translocation with proximal 13q monosomy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7783176

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7783176

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.3.227

1 reference

28 July 2017

1 reference

28 July 2017

1 reference