(Q56940210)

Ariane Chapgier

7

0 references

Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

2

0 references

Jacinta Bustamante

Jacinta Bustamante

5

0 references

Catherine Shanahan

Catherine M Shanahan

12

0 references

Laurent Abel

Laurent Abel

15

0 references

Stanislas Lyonnet

Stanislas Lyonnet

14

0 references

Jean-Laurent Casanova

Jean-Laurent Casanova

17

0 references

Jacqueline Feinberg

6

Jacqueline Feinberg

0 references

Lucile Jannière

9

Lucile Jannière

0 references

Xiao-Fei Kong

4

Xiao-Fei Kong

0 references

Carolina Prando

1

Carolina Prando

0 references

author name string

Audrey V Grant

3

0 references

Yoann Rose

8

0 references

Elena Rizzardi

10

0 references

Louis Viollet

13

0 references

Ezia Maria Ruga

American Journal of Medical Genetics

16

0 references

language of work or name

English

0 references

publication date

March 2010

0 references

published in

0 references

volume

152A

0 references

issue

3

0 references

page(s)

622-9

0 references

cites work

Origin of uniparental disomy 6: presentation of a new case and review on the literature

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33291

Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33291

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Molecular and infection biology of the horse pathogen Rhodococcus equi

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Complex and segmental uniparental disomy updated

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Computational and experimental identification of novel human imprinted genes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Diagnosis of neonatal and infancy-onset diabetes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Chronic granulomatous disease in pediatric patients: 25 years of experience.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Imprinted genes, placental development and fetal growth

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Tuberculosis in children and adults: two distinct genetic diseases

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Rhodococcus equi pneumonia in a renal transplant patient: a case report and review of literature

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Neonatal diabetes: new insights into aetiology and implications

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Refinement of the 6q chromosomal region implicated in transient neonatal diabetes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Modulation of cytokine response of pneumonic foals by virulent Rhodococcus equi.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Syndromal obesity due to paternal duplication 6(q24.3-q27).

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Growth effects of uniparental disomies and the conflict theory of genomic imprinting

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Immunity to Rhodococcus equi

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Fortuitous detection of uniparental isodisomy of chromosome 6.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946788

Lung abscess due to Corynebacterium equi. Report of first human infection

30 November 2018

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

An imprinted gene(s) for diabetes?

1 reference

12 December 2020

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus

1 reference

12 December 2020

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

1 reference

12 December 2020

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

1 reference

12 December 2020

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect

1 reference

12 December 2020

Foals are interferon gamma-deficient at birth

1 reference

12 December 2020

Novel Mutation in the Interferon-γ-Receptor Gene and Susceptibility to Mycobacterial Infections

1 reference

12 December 2020

Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome

1 reference

12 December 2020

Two patients with complete defects in interferon gamma receptor-dependent signaling

1 reference

12 December 2020

Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6

1 reference

12 December 2020

Acute osteomyelitis caused by Rhodococcus equi in an immunocompetent child

1 reference

12 December 2020

Respiratory infections in immunocompromised patients

1 reference

12 December 2020

Viral infections in interferon-gamma receptor deficiency

1 reference

12 December 2020

Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

1 reference

12 December 2020

Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6

1 reference

12 December 2020

Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene

1 reference

12 December 2020

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6

1 reference

12 December 2020

Rhodococcus equi: an emerging pathogen

1 reference

12 December 2020

[Transient neonatal diabetes associated with uniparental isodisomy of chromosome 6]

1 reference

12 December 2020