2023 Lucas T. Ahn Family Scholarship Recipient
Congratulations to Nadia Wallace, an undergraduate working in Dr. Lawrence T. Reiter’s lab, on being the second recipient of the Lucas T. Ahn Family Scholarship! “At the Neurology department of UTHSC in Dr. Reiter’s lab, I dedicate my time to finding...
Medication Recall Alert Sabril® (Vigabatrin)
Our friends at the Epielpsy Foundation have shared the Following Medication Recall The company that makes Sabril® (vigabatrin) for oral solution, a prescription medication to manage seizures in children and adults, has announced a recall of this medication because of...
Share Your Family Story!
Sharing your family story is one of the greatest gifts you can give. Your story is vital to raising awareness, understanding, and compassion, as it helps people feel connected and impacted. You are an empowered activist changing the future! ...
Blog Spot – Super Duper Coral
Coral and Our Family Our daughter, Coral, was born on July 28th, 2016. Three days later she stopped breathing. After numerous tests that returned as “normal”, the genetic testing report showed that she had a rare chromosomal duplication, Dup 15q. Dup 15q is...Additional Information
- Children’s Hospital Los Angeles Leads First Precision Health Trial for Dup15q Syndrome.
- 2019 Science Symposium
- 2021conference
- Adaptive Items
- Adult Life Connections
- Auction
- Believe Walk
- Dup15q Advocacy in Action
- Dup15q Clinics
- Families & Caregivers
- FAQs
- Gala
- Get involved in Rare Disease Day!
- Get involved in Rare Disease Day!
- Highlights From The ASF/Dup15q Science Symposium
- I don’t know what LADDER is.
- In Loving Memory
- Anna Miller
- Charly Curtis
- Clare True
- Colby Mosely
- Colleen Bruton
- Dylan King
- Eric Hoffmann
- Evan Mackey
- Fynn Cox
- Hayley Plate
- Jackson Campolmi
- Kelly Almond
- Kevin Chamberlain
- Kyle Barrett
- Kyle Morgan Hoffman
- Layton Roberson
- Luke Segars
- Michael Brady
- Michael Hauler
- Naomi Gerber
- Rachel Karch
- Sam Koury
- Sam O’Donovan
- Sarah Bernaldo
- Tyler Kobuszewski
- LADDER Database
- Ladder Learning Network
- Buenos Aires, Argentina
- Children’s Hospital Colorado
- Children’s Hospital Los Angeles
- Children’s Hospital of Eastern Ontario
- Children’s Hospital of Philadelphia
- Children’s Health Dallas/University of Texas Southwestern (UTSW)
- Edmond and Lily Safra Children’s Hospital, Tel Hashomer
- Erasmus MC, Rotterdam Netherlands
- Geisinger Autism & Developmental Medicine Institute Lewisburg, PA
- Massachusetts General Hospital
- Minnesota Epilepsy Group
- Nicklaus Children’s Hospital Miami, FL
- NYU Langone Health
- Rush University Medical Center, Chicago
- Texas Children’s Hospital, Houston
- UCSF Benioff Children’s Hospital San Francisco, CA
- University of North Carolina, Chapel Hill
- Vanderbilt University Medical Center, Nashville
- Weill Cornell Medicine New York
- Mayo Clinic
- Medical & Health Care
- Memorial Wall
- Million Dollar Bike Ride
- Nashville Attractions
- Navigating Special Needs Trusts
- Navigating SSI
- Newly Diagnosed Family – Parent to Parent Ambassadors
- Not Interested in sharing my child’s data.
- Not Sure if you signed up for LADDER?
- On Demand
- Other Resources & Programs for Families with Disabilities
- Professionals
- Programs & Resources
- Programs & Resources Data
- Ask the Expert Series
- Community Connections Chat
- Counseling Services
- Dup15q Air Travel Tips
- Past Webinars
- Resources for swim gear, adaptive gear, clothing, and equipment.
- Respite Resources
- State Resources
- Support for Other 15q Disorders
- Caregiver posting for child with dup15q syndrome
- Safety Resources
- Resource Navigator
- Roche
- Run/Ride for a Reason
- Siblings
- Signing up takes less than 5 minutes!
- Social Security Q & A
- Social Services Program
- Special Needs Trust Q & A
- STATE AND/OR REGIONAL TABLE OF RESOURCES
- Subscribe
- Teen Life
- Thank you for signing up for the LADDER Database!
- Thank you for verifying your contact information!
- Tips for IEP Transition into Highschool
- Understanding Dup15q Syndrome
- VIP Siblings
- Governmental Advocacy Resources
- Rare Your Blue for Dup15q
- Shop
- Why is it called Dup15q Syndrome?
- Glossary
- Conference Assistance Opportunities
- Believe: Living with Dup15q Syndrome Documentary
- Physician Advisory
- Events Calendar
- Medications Commonly Used in Dup15q Syndrome
- Home
- Tyler’s Clinic Travel Fund
- About Us
- For Families
- Get Involved
- Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2
- Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism
- Research
- The behavioral phenotype of the idic(15) syndrome
- Newsletter
- The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
- Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
- Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder
- A survey of seizures and current treatments in 15q duplication syndrome
- The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
- Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns
- Increased copy number for methylated 15q duplications leads to changes in gene and protein expression in human cortical samples
- Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
- A longitudinal follow-up study of autistic symptoms in children and adults with duplications of 15q11-13
- Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
- Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
- Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?
- Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
- Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
- The inv dup(15) or idic(15) syndrome: a clinically recognizable neurogenetic disorder
- Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy
- High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization with detection of gene dosage
- Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
- Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13
- Estimate of the prevalence of chromosome 15q11-q13 duplications
- Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
- Mild generalized epilepsy and developmental disorder associated with large inv dup(15)
- Estimate of prevalence of proximal 15q duplication syndrome
- Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
- Rearrangements of chromosome 15 in epilepsy
- The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
- Relationship between clinical and genetic features in inverted duplicated chromosome 15 patients
- The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings
- Genetic studies in autistic disorder and chromosome 15
- Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15
- Autistic symptoms among children and young adults with isodicentric chromosome 15
- Autism and maternally derived aberrations of chromosome 15q
- The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
- Autism or atypical autism in maternally but not paternally derived proximal 15q duplication