(Q24645679)

15

0 references

Cheryl Shoubridge

11

Cheryl Shoubridge

0 references

Andrew R. Zinn

Andrew R Zinn

16

0 references

Chao Xing

Chao Xing

2

0 references

Michael Stratton

14

Michael R Stratton

0 references

P. Andrew Futreal

13

Andrew Futreal

0 references

Patrick S. Tarpey

8

Patrick S Tarpey

0 references

Raffaella Smith

9

Raffaella Smith

0 references

author name string

Lane J Jaeckle Santos

1

0 references

Robert B Barnes

3

0 references

Lesley C Ades

4

0 references

Andre Megarbane

5

0 references

Christopher Vidal

6

0 references

Angela Xuereb

7

0 references

Mahmoud Khazab

10

0 references

Michael Partington

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

12

0 references

language of work or name

English

0 references

publication date

June 2008

0 references

published in

Human Genetics

0 references

volume

123

0 references

issue

5

0 references

page(s)

469-76

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

A telomerase component is defective in the human disease dyskeratosis congenita

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Regulatory role for a novel human thioredoxin peroxidase in NF-kappaB activation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Human box H/ACA pseudouridylation guide RNA machinery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Prediction of deleterious human alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Function and synthesis of small nucleolar RNAs

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

The genetics of mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Disturbed keratinocyte differentiation in transgenic mice and organotypic keratinocyte cultures as a result of spermidine/spermine N-acetyltransferase overexpression.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Statistical features of human exons and their flanking regions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Familial cutaneous amyloidosis with systemic manifestations in males

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714970

X-linked cutaneous amyloidosis: further clinical and pathological observations

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18404279

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18404279

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18404279

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-008-0498-4

1 reference

Dimensions Publication ID

1047184065

0 references

1 reference

1 reference

PubMed publication ID

18404279

1 reference