J. Steffann

发表

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

N. Frydman, R. Frydman, E. Feyereisen, 2007, Fertility and sterility.

Improving post-natal detection of mitochondrial DNA mutations

A. Munnich, A. Rötig, J. Steffann, 2020, Expert review of molecular diagnostics.

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

J. Steffann, M. Vekemans, L. Colleaux, 2016, Clinical genetics.

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

A. Munnich, N. Frydman, R. Frydman, 2006, Human reproduction.

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

A. Munnich, A. Benachi, P. Burlet, 2010, European Journal of Human Genetics.

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

N. Frydman, J. Steffann, H. Chneiweiss, 2018, Cell stem cell.

ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update

Debra J. H. Mathews, Patricia J. Zettler, R. Lovell-Badge, 2021, Stem cell reports.

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

A. Munnich, N. Frydman, R. Frydman, 2010, Human mutation.

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

A. Munnich, E. Leshinsky‐Silver, D. Lev, 2009, Molecular genetics and metabolism.

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

A. Munnich, J. Steffann, J. Bonnefont, 2014, European Journal of Human Genetics.

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.

A. Munnich, N. Frydman, R. Fanchin, 2008, Reproductive biomedicine online.

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

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

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

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

MECP 2 is highly mutated in X-linked mental retardation

H. Ropers, J. Fryns, A. Verloes, 2001 .

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019

J. Steffann, J. Poulton, R. Mcfarland, 2019, Neuromuscular Disorders.

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

A. Munnich, N. Frydman, R. Fanchin, 2005, Journal of Medical Genetics.

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

A. Munnich, N. Frydman, R. Frydman, 2013, Human molecular genetics.

Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation

A. Munnich, N. Frydman, R. Frydman, 2012, European Respiratory Journal.

Fetal DNA in maternal serum: does it persist after pregnancy?

A. Benachi, J. Steffann, P. Ernault, 2003, Human Genetics.

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations *

C. Bodemer, A. Hovnanian, A. Lapillonne, 2020, The British journal of dermatology.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

Multiple displacement amplification improves PGD for fragile X syndrome.

A. Munnich, N. Frydman, R. Frydman, 2006, Molecular human reproduction.

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

A. Munnich, N. Frydman, R. Frydman, 2004, Human Genetics.

Tubulin mutations in human neurodevelopmental disorders.

A. Laquérriere, J. Steffann, Charles-Joris Roux, 2022, Seminars in cell & developmental biology.

What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?

N. Frydman, A. Benachi, J. Steffann, 2021, Human reproduction.

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

A. Munnich, A. Rötig, C. Guillermet, 2012, Biochimica et biophysica acta.

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. Munnich, A. Rötig, J. Steffann, 2007, Molecular genetics and metabolism.

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.

A. Munnich, N. Frydman, R. Frydman, 2005, Fertility and sterility.

NDP gene mutations in 14 French families with Norrie disease

A. Munnich, S. Hanein, J. Steffann, 2003, Human mutation.

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

A. Munnich, N. Frydman, R. Frydman, 2011, American journal of human genetics.

Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

A. Munnich, R. Frydman, J. Steffann, 2007, Journal of Medical Genetics.

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

A. Munnich, A. Rötig, A. Benachi, 2006, Journal of Medical Genetics.

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

A. Munnich, N. Frydman, R. Frydman, 2014, Cell reports.

Synthesis of 4- and 5-substituted 10-oxatricyclo[5.2.l.02,6]decadienones. Functionalization of the cyclo-adduct of furan and cyclopenten-1,4-dione.

J. Steffann, B. Zwanenburg, A. Klunder, 1989 .

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

A. Munnich, J. Steffann, B. Chadefaux-Vekemans, 2009, Human Mutation.

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

A. Smahi, C. Bodemer, O. Chosidow, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Preimplantation genetic diagnosis: state of the art.

R. Fanchin, R. Frydman, J. Steffann, 2009, European journal of obstetrics, gynecology, and reproductive biology.

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

S. Hadj-Rabia, J. Steffann, I. Sermet-Gaudelus, 2022, Genes.

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

Misha Angrist, Arnold Munnich, Aravinda Chakravarti, 2002, Nature Genetics.

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study

S. Kahraman, C. Giménez, J. Traeger-Synodinos, 2018, Human reproduction.

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF‐&kgr;B activation and leads to incontinentia pigmenti

A. Smahi, C. Bodemer, A. Munnich, 2017, The Journal of allergy and clinical immunology.

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

A. Smahi, A. Munnich, S. Kenwrick, 2004, Prenatal diagnosis.

Familial congenital cataract, non-progressive neurological disorders and mental deficiency: a new X-linked syndrome?

J. Steffann, R. Pfeiffer, 1985, Ophthalmic paediatrics and genetics.

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

C. Aloui, O. Quenez, D. Hervé, 2020, Journal of Medical Genetics.

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

A. Smahi, C. Bodemer, A. Munnich, 2014, Human mutation.

[Extending preimplantation genetic diagnosis to HLA typing: the French exception].

A. Munnich, N. Frydman, R. Frydman, 2011, Bulletin de l'Academie nationale de medecine.

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

A. Munnich, R. Fanchin, P. Burlet, 2011, Bulletin de l'Academie nationale de medecine.

After the Storm - A Responsible Path for Genome Editing.

R. Lovell-Badge, G. Daley, J. Steffann, 2019, The New England journal of medicine.

MECP2 is highly mutated in X-linked mental retardation.

H. Ropers, J. Fryns, A. Verloes, 2001, Human molecular genetics.

Clinical Utility Gene Card for: incontinentia pigmenti

F. Fusco, J. Steffann, A. Pescatore, 2012, European Journal of Human Genetics.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti

C. Bodemer, F. Fusco, M. de La Dure-Molla, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?

A. Benachi, D. Stoppa-Lyonnet, J. Steffann, 2022, Cancers.

CTG expansion in the DMPK gene: semen quality assessment and outcome of Preimplantation Genetic Diagnosis.

N. Frydman, J. Steffann, V. Puy, 2020, The Journal of clinical endocrinology and metabolism.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

A. Munnich, Y. Ville, A. Rötig, 2020, Genetics in Medicine.

Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield

C. Bodemer, S. Hadj-Rabia, J. Steffann, 2018, The British journal of dermatology.

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

A. Smahi, C. Bodemer, A. Munnich, 2017, Molecular genetics and metabolism.

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

J. Melki, J. Steffann, F. Encha-Razavi, 2022, American journal of medical genetics. Part A.

Biallelic IARS2 mutations presenting as sideroblastic anemia

A. Munnich, N. Boddaert, A. Rötig, 2020, Haematologica.

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

A. Munnich, Y. Ville, J. Steffann, 2019, BJOG : an international journal of obstetrics and gynaecology.

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2003, Human Genetics.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Novel CFTR mutations in black cystic fibrosis patients

J. Steffann, I. Sermet, G. Lenoir, 2004, Clinical genetics.

Successful pre‐implantation genetic diagnosis for Hirschsprung disease

A. Munnich, N. Frydman, R. Frydman, 2011, Clinical genetics.

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

J. Steffann, J. Bonnefont, S. Monnot, 2015, Clinical genetics.

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

A. Munnich, J. Steffann, A. Rotig, 2017, Journal of Medical Genetics.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

A. Munnich, N. Frydman, A. Rötig, 2023, Human reproduction.

Second biopsy for embryos with inconclusive results after preimplantation genetic testing: impact on pregnancy outcomes.

N. Frydman, J. Steffann, C. Sonigo, 2022, Journal of gynecology obstetrics and human reproduction.

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

A. Munnich, N. Frydman, R. Frydman, 2005, Molecular genetics and metabolism.

Expanding the clinical spectrum of MTTF mutations

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options

S. Hanein, J. Steffann, N. Cerf-Bensussan, 2023, Journal of Clinical Immunology.

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

A. Munnich, Y. Ville, C. Elie, 2017, Journal of Medical Genetics.

Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience

N. Frydman, A. Benachi, D. Stoppa-Lyonnet, 2023, Journal of Assisted Reproduction and Genetics.

Clinical utility gene card: for incontinentia pigmenti

F. Fusco, J. Steffann, A. Pescatore, 2019, European Journal of Human Genetics.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus

A. Munnich, J. Steffann, M. Raynaud, 2019, Prenatal diagnosis.

[Prenatal and preimplantation genetic diagnosis: decision tree, new practices?].

N. Frydman, E. Feyereisen, J. Steffann, 2005, Medecine sciences : M/S.

O▪26 Preimplantation diagnosis of the NARP mitochondrial DNA mutation

A. Munnich, N. Frydman, R. Frydman, 2005 .

Tuberous sclerosis (TSC)

A. Munnich, J. Steffann, J. Bonnefont, 2011 .

A novel recurrent LIS1 splice site mutation in classic lissencephaly

N. Boddaert, J. Chelly, J. Steffann, 2017, American journal of medical genetics. Part A.

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

A. Munnich, J. Steffann, B. Chadefaux-Vekemans, 2009, Human mutation.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020, European Journal of Human Genetics.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020 .