(Q34044794)

English

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome (English)

1 reference

Europe PubMed Central

30 July 2017

18

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Teresa Esposito

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T Esposito

10

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Stanislas Lyonnet

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S Lyonnet

16

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author name string

S Kenwrick

1

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Europe PubMed Central

30 July 2017

H Woffendin

2

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30 July 2017

T Jakins

3

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30 July 2017

S G Shuttleworth

4

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30 July 2017

E Mayer

5

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30 July 2017

L Greenhalgh

6

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30 July 2017

J Whittaker

7

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30 July 2017

S Rugolotto

8

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30 July 2017

T Bardaro

9

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30 July 2017

M D'Urso

11

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30 July 2017

F Soli

12

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30 July 2017

A Turco

13

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30 July 2017

A Smahi

14

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30 July 2017

D Hamel-Teillac

15

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30 July 2017

J P Bonnefont

17

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30 July 2017

S Aradhya

19

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30 July 2017

C D Kashork

20

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30 July 2017

L G Shaffer

21

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D L Nelson

22

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M Levy

23

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30 July 2017

R A Lewis

24

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30 July 2017

International IP Consortium

25

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language of work or name

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publication date

22 October 2001

1 reference

Europe PubMed Central

30 July 2017

American Journal of Human Genetics

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Europe PubMed Central

30 July 2017

69

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30 July 2017

1210-1217

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30 July 2017

6

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Europe PubMed Central

30 July 2017

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Suppression of TNF-alpha-induced apoptosis by NF-kappaB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Gonadal mosaicism for incontinentia pigmenti in a healthy male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Incontinentia pigmenti in a boy with Klinefelter's syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Incontinentia pigmenti. A world statistical analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Letter: Half chromatid mutations may explain incontinentia pigmenti in males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 July 2018

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 October 2018

Male cases of incontinentia pigmenti: case report and review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235532

28 October 2018

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incontinentia pigmenti in a male infant with Klinefelter syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incontinentia pigmenti: XXY male with a family history

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11673821

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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