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Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
By:
- Kopp, Johannes;
- Koch, Leonard A.;
- Lyubenova, Hristiana;
- Küchler, Oliver;
- Holtgrewe, Manuel;
- Ivanov, Andranik;
- Dubourg, Christele;
- Launay, Erika;
- Brachs, Sebastian;
- Mundlos, Stefan;
- Ehmke, Nadja;
- Seelow, Dominik;
- Fradin, Mélanie;
- Kornak, Uwe;
- Fischer-Zirnsak, Björn
Publication type:
Article
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Published in:
Molecular Human Reproduction, 2020, v. 26, n. 9, p. 665, doi. 10.1093/molehr/gaaa050
By:
- Jaillard, Sylvie;
- McElreavy, Kenneth;
- Robevska, Gorjana;
- Akloul, Linda;
- Ghieh, Farah;
- Sreenivasan, Rajini;
- Beaumont, Marion;
- Bashamboo, Anu;
- Bignon-Topalovic, Joelle;
- Neyroud, Anne-Sophie;
- Bell, Katrina;
- Veron-Gastard, Elisabeth;
- Launay, Erika;
- van den Bergen, Jocelyn;
- Nouyou, Bénédicte;
- Vialard, François;
- Belaud-Rotureau, Marc-Antoine;
- Ayers, Katie L;
- Odent, Sylvie;
- Ravel, Célia
Publication type:
Article
Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
Published in:
Cytogenetic & Genome Research, 2022, v. 162, n. 3, p. 124, doi. 10.1159/000524388
By:
- Toujani, Saloua;
- Tucker, Elena J.;
- Akloul, Linda;
- Mary, Laura;
- Pimentel, Céline;
- Launay, Erika;
- Freton, Lucas;
- Jouve, Guilhem;
- Henry, Catherine;
- Odent, Sylvie;
- Belaud-Rotureau, Marc-Antoine;
- Jaillard, Sylvie
Publication type:
Article
Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.
Published in:
Cytogenetic & Genome Research, 2021, v. 161, n. 3/4, p. 143, doi. 10.1159/000514592
By:
- Mary, Laura;
- Loget, Philippe;
- Odent, Sylvie;
- Aussel, Dominique;
- Le Bouar, Gwenaelle;
- Launay, Erika;
- Henry, Catherine;
- Belaud-Rotureau, Marc-Antoine;
- Jaillard, Sylvie
Publication type:
Article
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Published in:
Cytogenetic & Genome Research, 2019, v. 159, n. 4, p. 201, doi. 10.1159/000504820
By:
- Beaumont, Marion;
- Tucker, Elena J.;
- Mary, Laura;
- Launay, Erika;
- Lurton, Yann;
- Pimentel, Céline;
- Rollier, Paul;
- akloul, Linda;
- Beneteau, Claire;
- Chevallier-Bordeau, Solène;
- Neyroud, anne-Sophie;
- Pichon, Olivier;
- Ravel, Célia;
- Odent, Sylvie;
- Belaud-Rotureau, Marc-antoine;
- Jaillard, Sylvie
Publication type:
Article

Found: 5

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.