(Q33679780)

28 July 2017

title

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). (English)

1 reference

28 July 2017

Masuno M

1

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28 July 2017

Imaizumi K

2

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28 July 2017

Fukushima Y

3

1 reference

28 July 2017

Tanaka Y

4

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28 July 2017

Ishii T

5

1 reference

28 July 2017

Nakamura M

6

1 reference

28 July 2017

Kuroki Y

7

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28 July 2017

language of work or name

English

0 references

publication date

1 November 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

11

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28 July 2017

page(s)

952-954

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High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to 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=1051130

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

Median cleft of the upper lip.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

True median cleft of the upper lip associated with three pedunculated club-shaped skin masses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

The molecular basis of severe hemophilia B in a girl

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

Median clefting of the upper lip associated with cutaneous polyps

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 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=1051130

Noninactivation of a portion of Xq28 in a balanced X-autosome 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=1051130

A further patient with Pai syndrome with autosomal dominant inheritance?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051130

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation

30 October 2018

1 reference

12 December 2020

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus

1 reference

12 December 2020

Previous reports on median cleft lip

1 reference

12 December 2020

Median cleft lip with pedunculated skin masses

1 reference

12 December 2020

Midline cleft lip with associated abnormalities

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.11.952

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28 July 2017

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28 July 2017

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