Worldwide exchange of information & awareness for children with #BohringOpitz Syndrome/#ASXL1 - We have stopped posting new tweets.
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Joined April 2015
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BohringOpitzSyndrome retweeted
Thank you @RareDiseases for the opportunity to present the findings from our family survey at the #NORDSummit!
Thank you and congratulations to our top five poster abstract submitters for their insightful presentations during the “Lightning Round Poster Presentations.” Check out their posters in the #NORDSummit exhibit hall!
BohringOpitzSyndrome retweeted
#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 bit.ly/37lkMX6
BohringOpitzSyndrome retweeted
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). doi.org/10.1038/s41431-022-0…
BohringOpitzSyndrome retweeted
DNA methylation can help classify variants in Bohring-Opitz syndrome.
nature.com/articles/s41431-0…
BohringOpitzSyndrome retweeted
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.
l.eurordis.org/StuD
📸 "Happy together", Ukraine
BohringOpitzSyndrome retweeted
Self-Induced Bilateral Retinal Detachments and Traumatic Cataracts in a Patient With Bohring-Opitz Syndrome (and autism) pubmed.ncbi.nlm.nih.gov/3430… Self-injurious behaviour has consequences. See also: questioning-answers.blogspot… (detached retinas)
BohringOpitzSyndrome retweeted
Self-Induced Bilateral Retinal Detachments and Traumatic Cataracts in a Patient With Bohring-Opitz Syndrome: bit.ly/3rC5bJ5
BohringOpitzSyndrome retweeted
New Research: A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review: Bohring-Opitz syndrome (BOS) is a rare genetic disease first reported by Bohring et al. in 1999.… frontiersin.org/articles/10.… #Pediatrics
BohringOpitzSyndrome retweeted
Chloe Hoyle was born in 2018 with Bohring-Opitz syndrome, a genetic disability that affects her growth, development and organs. Her family is overwhelmed with medical expenses and is now reaching out for help. keyc.com/2021/06/18/minnesot…
BohringOpitzSyndrome retweeted
Registration is now open for the virtual 2021 ASXL Family Conference! Join us for updates on #BohringOpitz, #ShashiPena, and #BainbridgeRopers Syndromes in July with the world's leading experts. Get details and register online: bit.ly/2TMGT1Y
BohringOpitzSyndrome retweeted
Two-year-old Libby Carlin, from Peterborough, lives with Bohring-Opitz syndrome, a rare genetic condition that affects the development of many parts of the body.
EACH supports Libby and her family in a variety of ways, read their story: ow.ly/Nret50ER9fA
BohringOpitzSyndrome retweeted
Save the date for the ASXL Family Conference Bohring-Opitz Syndrome session on Sat. 7/24! Hear from BOS experts Bianca Russell (@ucla) and Wen-Hann Tan (@BostonChildrens). More details: bit.ly/3f8Pwft #bohringopitz #bohringopitzsyndrome #bos #asxl1
BohringOpitzSyndrome retweeted
It's the Bohring-Opitz Syndrome Support Group's 10th anniversary! GeneDx collaborated with Dr. John Graham in the genetic testing process for BOS, making it now possible to confirm diagnosis with a #genetic #DNA test. Learn more from @childrenwithbos: bit.ly/2QydRSt
BohringOpitzSyndrome retweeted
Hoy es el día Internacional del Deporte para el Desarrollo y la Paz, también se celebra el Día del Interno de Medicina, Día de la Concienciación sobre el Síndrome de Bohring-Opitz (es una enfermedad rara que afecta al desarrollo de muchas partes del organismo)
BohringOpitzSyndrome retweeted
Oleh karena itu, yang bisa kita lakukan adalah pencegahan dengan melakukan deteksi dini lewat tindakan amniosentesis, chorionic villus sampling, atau program bayi tabung, serta tetap memberikan dukungan kepada para pasien dengan Sindrom Bohring-Opitz tersebut.
BohringOpitzSyndrome retweeted
BOHRING-OPITZ SYNDROME (BOS) AWARENESS DAY
Bohring-Opitz Syndrome (BOS) Awareness Day takes place on April 6th each year. The purpose of the day is to educate both the public and the medical community about the disease and to support families who have someone with BOS.
BohringOpitzSyndrome retweeted
Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are approximately 150-200 cases worldwide. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene.
BohringOpitzSyndrome retweeted
Happy Bohring-Opitz Syndrome Awareness Day from ACOLF! Bohring-Opitz Syndrome is a rare condition that affects multiple parts of the body. For example, someone with Bohring-Opitz could have bad seizures or intellectual difficulty, or even development delays.
BohringOpitzSyndrome retweeted
Globally around 50 individuals have been diagnosed with the Syndrome according to medical attention, 2019 data.
Pc:@theNCI
Link: rarediseases.org/rare.../boh…....
#rarediseaseawareness #disability #bohringopitz
BohringOpitzSyndrome retweeted
Bohring-Opitz Syndrome Awareness Day takes place on April 6th each year. Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
#SaudiRehabExpo #BohringOpitz #RareDisease #AwarnessDay
