Lista de obras - Julie Steffann - Dominio Público Uruguay

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2007

A novel recurrent LIS1 splice site mutation in classic lissencephaly

artículo científico publicado en 2016

Clinical Utility Gene Card for: incontinentia pigmenti

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2001

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

artículo científico publicado en 2005

Multiple displacement amplification improves PGD for fragile X syndrome.

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Preimplantation genetic diagnosis: state of the art.

artículo científico publicado en 2009

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

article

Recurrent KIF2A mutations are responsible for classic lissencephaly

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Successful pre-implantation genetic diagnosis for Hirschsprung disease.

artículo científico publicado en 2011

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

artículo científico publicado en 2015

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

artículo científico publicado en 2015

[Mitochondria and oocyte maturation]

artículo científico publicado en 2010

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

artículo científico publicado en 2014

Lista de obras de 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