Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 6

Results: 5

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 775, doi. 10.1007/s00439-024-02683-0
By:
- Tritto, Viviana;
- Bettinaglio, Paola;
- Mangano, Eleonora;
- Cesaretti, Claudia;
- Marasca, Federica;
- Castronovo, Chiara;
- Bordoni, Roberta;
- Battaglia, Cristina;
- Saletti, Veronica;
- Ranzani, Valeria;
- Bodega, Beatrice;
- Eoli, Marica;
- Natacci, Federica;
- Riva, Paola
Publication type:
Article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
By:
- Vos, Niels;
- Haghshenas, Sadegheh;
- van der Laan, Liselot;
- Russel, Perle K. M.;
- Rooney, Kathleen;
- Levy, Michael A.;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Maas, Saskia M.;
- Vissers, Lisenka E. L. M.;
- de Vries, Bert B. A.;
- Pfundt, Rolph;
- Elting, Mariet W.;
- van Hagen, Johanna M.;
- Verbeek, Nienke E.;
- Jongmans, Marjolijn C. J.;
- Lakeman, Phillis;
- Rumping, Lynne;
- Bosch, Danielle G. M.
Publication type:
Article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 739, doi. 10.1007/s00439-024-02677-y
By:
- AlAbdi, Lama;
- Neuhann, Teresa;
- Prott, Eva-Christina;
- Schön, Ulrike;
- Abdulwahab, Firdous;
- Faqeih, Eissa;
- Alkuraya, Fowzan S.
Publication type:
Article
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 747, doi. 10.1007/s00439-024-02675-0
By:
- Di Fede, Elisabetta;
- Lettieri, Antonella;
- Taci, Esi;
- Castiglioni, Silvia;
- Rebellato, Stefano;
- Parodi, Chiara;
- Colombo, Elisa Adele;
- Grazioli, Paolo;
- Natacci, Federica;
- Marchisio, Paola;
- Pezzani, Lidia;
- Fazio, Grazia;
- Milani, Donatella;
- Massa, Valentina;
- Gervasini, Cristina
Publication type:
Article
STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 735, doi. 10.1007/s00439-024-02662-5
By:
- Zhang, Mengna
Publication type:
Article

Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 6

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score.