Skip to main content

8 Result(s)

within Julie Steffann Remove this filter

and

  1. Article

    Open Access

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

    Hyper activation of the JAK-STAT signaling underlies the pathophysiology of many human immune–mediated diseases. Herein, the study of 2 adult patients with SOCS1 haploinsufficiency illustrates the severe and p...

    Marco M. Rodari, Dominique Cazals-Hatem, Mathieu Uzzan… in Journal of Clinical Immunology (2023)

    Download PDF (1446 KB) View Article

  2. No Access

    Article

    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

    Preimplantation genetic testing (PGT-M) and prenatal diagnosis (PND) followed by medical termination of pregnancy when the fetus is affected are two procedures developed to avoid the transmission of a severe h...

    Traicie Dervin, Noémie Ranisavjevic… in Journal of Assisted Reproduction and Genet… (2023)

  3. No Access

    Article

    Preimplantation genetic testing in patients with genetic susceptibility to cancer

    Data on preimplantation genetic testing (PGT-M) in patients with genetic susceptibility to cancer are scarce in the literature, while there is, in our experience, a growing familiarity with assisted reproducti...

    Marie-Charlotte Villy, Nelly Frydman, Céline Moutou, Gaëlle Thierry… in Familial Cancer (2023)

  4. No Access

    Article

    Recurrent KIF2A mutations are responsible for classic lissencephaly

    Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recen...

    Mara Cavallin, Emilia K. Bijlsma, Adrienne El Morjani, Sébastien Moutton… in neurogenetics (2017)

  5. No Access

    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

    Preimplantation genetic diagnosis (PGD) first consisted of the selection of female embryos for patients at risk of transmitting X-linked recessive diseases. Advances in molecular biology now allow the specific...

    Nadine Gigarel, Nelly Frydman, Philippe Burlet, Violaine Kerbrat… in Human Genetics (2004)

  6. No Access

    Article

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

    Fetal DNA and cells present in maternal blood have previously been used for non-invasive prenatal diagnosis. However, some fetal cells can persist in maternal blood after a previous pregnancy. Fetal rhesus sta...

    Alexandra Benachi, Julie Steffann, Evelyne Gautier, Pauline Ernault… in Human Genetics (2003)

  7. No Access

    Article

    Genoty** 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

    Complex I deficiency, the most common cause of mitochondrial disorders, accounts for a variety of clinical symptoms and its genetic heterogeneity makes identification of the disease genes particularly tedious....

    Paule Bénit, Julie Steffann, Sophie Lebon, Dominique Chretien… in Human Genetics (2003)

  8. No Access

    Article

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

    Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance. Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to...

    Stacey Bolk Gabriel, Rémi Salomon, Anna Pelet, Misha Angrist… in Nature Genetics (2002)