List of works - Julie Steffann

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

scientific article published on 23 October 2010

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

scientific article

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

scientific article published on 01 May 2004

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

scientific article

A novel recurrent LIS1 splice site mutation in classic lissencephaly

scientific article published on 27 November 2016

Clinical Utility Gene Card for: incontinentia pigmenti

scientific article published on 10 October 2012

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

scientific article published in May 2014

Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France

article

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

scientific article published on 30 October 2006

Genome Editing and Dialogic Responsibility: "What's in a Name?".

scientific article published in December 2015

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

scientific article published on 12 December 2013

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

scientific article published on 26 February 2017

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

scientific article

Le diagnostic préimplantatoire couplé au typage HLA : l'expérience parisienne

scientific article published on 01 October 2005

Multiple displacement amplification improves PGD for fragile X syndrome.

scientific article published on 8 August 2006

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

scientific article

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

scientific article published on 9 January 2017

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

scientific article published on 11 September 2013

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

scientific article

Preimplantation genetic diagnosis: state of the art.

scientific article published on 02 May 2009

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

article

Recurrent KIF2A mutations are responsible for classic lissencephaly

scientific article published on 17 October 2016

Segregation at three loci explains familial and population risk in Hirschsprung disease

scientific article published on 15 April 2002

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

scientific article

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

scientific article published on 12 December 2003

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

scientific article published on 09 December 2004

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

scientific article

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

scientific article published in May 2009

Successful pre-implantation genetic diagnosis for Hirschsprung disease.

scientific article

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

scientific article published on 21 September 2015

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

scientific article published on 11 February 2015

[Mitochondria and oocyte maturation]

scientific article published on 01 April 2010

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

scientific article

List of works by Julie Steffann

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

A novel recurrent LIS1 splice site mutation in classic lissencephaly

Clinical Utility Gene Card for: incontinentia pigmenti

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

Genome Editing and Dialogic Responsibility: "What's in a Name?".

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Le diagnostic préimplantatoire couplé au typage HLA : l'expérience parisienne

Multiple displacement amplification improves PGD for fragile X syndrome.

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

Preimplantation genetic diagnosis: state of the art.

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

Recurrent KIF2A mutations are responsible for classic lissencephaly

Segregation at three loci explains familial and population risk in Hirschsprung disease

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Successful pre-implantation genetic diagnosis for Hirschsprung disease.

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

[Mitochondria and oocyte maturation]

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development