BohringOpitzSyndrome

Worldwide exchange of information & awareness for children with #BohringOpitz Syndrome/#ASXL1 - We have stopped posting new tweets.

[BohringOpitzSyndrome @childrenwithbos]

We have decided not use on the social medium platform ‘X’, formerly ‘Twitter’ anymore. See why https://t.co/5Z3vfN6qHg

[BohringOpitzSyndrome @childrenwithbos]

https://t.co/RBQm7O22oO Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS), caused by de novo mutation in ASXL1 gene.

[BohringOpitzSyndrome @childrenwithbos]

BOS Puberty Study
Last recruitment call for the BOS EEG Study. We are looking for 5 more people! @https://bohring-opitz.org/2023/06/02/bos-puberty-study/

[BohringOpitzSyndrome @childrenwithbos]

ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures https://t.co/hSjaa8SNEz

[BohringOpitzSyndrome @childrenwithbos]

Newsletter ASXL Registry https://t.co/fkGy607nxA

[BohringOpitzSyndrome @childrenwithbos]

Long awaited BOS publication https://t.co/s6MSjjsGSI

[BohringOpitzSyndrome @childrenwithbos]

Well done! @arrefoundation present #researchroadmap for #ASXL families art #NORDSummit

[ARRE Foundation @arrefoundation]

Thank you @RareDiseases for the opportunity to present the findings from our family survey at the #NORDSummit!

[ARRE Foundation @arrefoundation]

Thank you @RareDiseases for the opportunity to present the findings from our family survey at the #NORDSummit!

[BohringOpitzSyndrome @childrenwithbos]

COMING SOON: PUBERTY SURVEY FOR ALL ASXL FAMILIES!
The UCLA ASXL Registry team is currently working on a new survey regarding puberty in children with ASXL conditions. If you would like to participate, please enroll in in the Registry. More info https://t.co/I0tA3Hu1r4

[El Progreso de Lugo @elprogreso_Lugo]

#Lugo 🔴 Daniela y la cruel lotería de la genética

Este miércoles está dedicado a visibilizar el síndrome de Bohring Opitz, una enfermedad ultrarara, que tienen solo cuatro pacientes en España. Uno de ellos una niña lucense, Daniela Varela https://t.co/fUUHCMxqvp

[Victor V. Lobanenkov @boris_ctcf]

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

Eur J Hum Genet 30, 695–702 (2022). https://t.co/kVm2CKtZOq

[BohringOpitzSyndrome @childrenwithbos]

11 years ago in 2011 https://t.co/YffpO7wxr4

[BohringOpitzSyndrome @childrenwithbos]

Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1

[BohringOpitzSyndrome @childrenwithbos]

Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1

[BohringOpitzSyndrome @childrenwithbos]

Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1

[BohringOpitzSyndrome @childrenwithbos]

Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1

[BohringOpitzSyndrome @childrenwithbos]

Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1

[European Journal of Human Genetics @ejhg_journal]

DNA methylation can help classify variants in Bohring-Opitz syndrome.
https://t.co/0VzYjBaz5A

[EURORDIS-Rare Diseases Europe @eurordis]

We stand in solidarity with people in Ukraine and wish to extend support to 🇺🇦 rare disease community.

We are calling on the international community to protect those caught in the conflict, with no access to humanitarian aid.

https://t.co/r141NWb1vX
📸 "Happy together", Ukraine