Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anna L. Burgemeister"'
Autor:
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Robert Kopajtich, Thomas Meitinger, Jehan Suleiman, Ayman W El-Hattab
Publikováno v:
Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)
Hum. Mol. Genet. 31, 3083-3094 (2022)
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82b1a14904cdc0173758c0e7464c36e
https://pubmed.ncbi.nlm.nih.gov/35512351
https://pubmed.ncbi.nlm.nih.gov/35512351
Autor:
Korbinian M. Riedhammer, Ayman W. El-Hattab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mirjana Gusic, Timothy Jicinsky, Maha Abdulrahim, Moeenaldeen Al-Sayed, Jehan Suleiman, Weimin Bi, Manal Nicolas-Jilwan, Nabil Moghrabi, Laurie Werner, Srirangan Sampath, Anna L. Burgemeister, Melinda Mundt
Publikováno v:
Hum. Mutat. 40, 1985-1992 (2019)
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respiratory infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d2079d27f4f4ebe27c3ad9c72182f9
https://pubmed.ncbi.nlm.nih.gov/31209944
https://pubmed.ncbi.nlm.nih.gov/31209944
Publikováno v:
Medizinische Genetik. Dec2019, Vol. 31 Issue 4, p412-420. 9p.
Autor:
Riedhammer, Korbinian M, Burgemeister, Anna L, Cantagrel, Vincent, Amiel, Jeanne, Siquier-Pernet, Karine, Boddaert, Nathalie, Hertecant, Jozef, Kannouche, Patricia L, Pouvelle, Caroline, Htun, Stephanie, Slavotinek, Anne M, Beetz, Christian, Diego-Alvarez, Dan, Kampe, Kapil, Fleischer, Nicole, Awamleh, Zain, Weksberg, Rosanna, Kopajtich, Robert, Meitinger, Thomas, Suleiman, Jehan
Publikováno v:
Human Molecular Genetics; 9/15/2022, Vol. 31 Issue 18, p3083-3094, 12p
Autor:
Suleiman, Jehan, Riedhammer, Korbinian M., Jicinsky, Timothy, Mundt, Melinda, Werner, Laurie, Gusic, Mirjana, Burgemeister, Anna L., Alsaif, Hessa S., Abdulrahim, Maha, Moghrabi, Nabil N, Nicolas‐Jilwan, Manal, AlSayed, Moeenaldeen, Bi, Weimin, Sampath, Srirangan, Alkuraya, Fowzan S., El‐Hattab, Ayman W.
Publikováno v:
Human Mutation; Nov2019, Vol. 40 Issue 11, p1985-1992, 8p