Related Topics | CHOP Research Institute
Request an Edit
Skip to main content

HOW CAN WE HELP YOU? Call 1-800-TRY-CHOP

Utility Nav

  • CHOP.EDU
  • Careers
  • Ways to Give
  • Healthcare Professionals
  • International
CHOP RI LogoChildren's Hospital of Philadelphia
Menu

Main navigation

  • Find People
  • Our Research
  • Clinical Trials
  • About
  • Innovation
  • Faculty & Staff Resources
  • Make a Gift
 

Results for 22q Deletion Syndrome

Share:
1 - 10 of 15

Maria R. Mascarenhas, MBBS
Maria R. Mascarenhas

Dr. Mascarenhas is director of the Nutrition Support Service, section chief of nutrition in the Division of Gastroenterology and Nutrition, medical director of the Clinical Nutrition Department, and director of the Integrative Health Program. Her research interests involve 22q deletion syndrome, cystic fibrosis, nutrition, and integrative medicine.

E-mail:
mascarenhas [at] chop.edu
Beverly S. Emanuel, PhD
Beverly S. Emanuel Headshot

Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.

E-mail:
emanuel [at] chop.edu

‘Proud of Even the Smallest Things:’ Q&A With Elaine Zackai, MD

Published on
Jul 1, 2022
in Cornerstone Blog
‘Proud of Even the Smallest Things:’ Q&A With Elaine Zackai, MD
Elaine Zackai, MD, is celebrating 50 years at CHOP and a Lifetime Achievement Award.

Researchers Explore Connection Between Mitochondrial Function and Schizophrenia in 22q11DS

Published on
Jul 19, 2021
in Cornerstone Blog
Mitochondrial Function and Schizophrenia in 22q11DS
CHOP and Penn researchers find connection between mitochondrial function and mental illness in patients with a rare genetic disorder.

In the News: 22q, Mentoring Award, Neonatal E. coli, Gene Therapy, Siegel Award

Published on
Nov 20, 2020
in Cornerstone Blog
In the News
This week in the news: New awards for our scientists and findings for antibiotic stewardship, gene therapy, and 22q11.2 deletion syndrome.

Researchers Fine-tune Disrupted Brain Circuitry With Focal Gene Therapy

Published on
Oct 29, 2020
in Cornerstone Blog
Fine-tuning disrupted brain circuitry
Chemogenetic technology is making it more possible to identify abnormal circuitry, correct it, and change the relevant behaviors.

In the News: Humanitarian Award, Psychosis with 22q11.2 Deletion, Antibiotic Stewardship, Continuous Glucose Monitoring, New Algorithm for DNA Methylation

Published on
Aug 14, 2020
in Cornerstone Blog
In the News
In the News this week features a Humanitarian Award, along with research on psychosis, antibiotics continuous glucose monitoring and DNA methylation.

New Consortium to Study Link Between Rare Disorders, Psychiatric Conditions

Published on
Mar 31, 2020
in Cornerstone Blog
Genome Mental Health
Genome to Mental Health consortium to study link between rare disorders, psychiatric conditions.

CHOP Experts from 22q and You Center Update Multiple Facets of the Condition in Special Issue of Journal

Published on
Dec 19, 2018
in Press Releases
Dozens of Children’s Hospital of Philadelphia (CHOP) clinicians and researchers contributed to a recent special issue of the American Journal of Human Genetics.

Lifespan Brain Institute Symposium Digs Into Roots of Mental Illness

Published on
Mar 21, 2018
in Cornerstone Blog
Lifespan Brain Institute
Two-hundred attendees gathered for the first Lifespan Brain Institute Symposium to dig deep into the neurobiological development of mental illness.
1 - 10 of 15

Pagination

  • Current page 1
  • Page 2
  • Next page ››
  • Last page Last »
Back to previous page

In this section

Filter By

  • Principal Investigator / Faculty (2)

Organizations

  • Anderson Laboratory (3)
  • Lifespan Brain Institute (3)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (3)
  • Center for Applied Genomics (2)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Department of Pediatrics (2)
  • Clinical Futures (1)
  • Department of Biomedical and Health Informatics (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Adolescent Medicine (1)
  • Division of Hematology (1)
  • Division of Human Genetics (1)
  • Division of Infectious Diseases (1)
  • Division of Neonatology (1)
  • Division of Neurology (1)
  • Division of Ophthalmology (1)
  • Division of Orthopaedic Surgery (1)
  • Division of Protective Immunity (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (1)

In this section

Filter By

  • Principal Investigator / Faculty (2)

Organizations

  • Anderson Laboratory (3)
  • Lifespan Brain Institute (3)
  • Research in the Department of Child and Adolescent Psychiatry and Behavioral Services (3)
  • Center for Applied Genomics (2)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Department of Pediatrics (2)
  • Clinical Futures (1)
  • Department of Biomedical and Health Informatics (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Adolescent Medicine (1)
  • Division of Hematology (1)
  • Division of Human Genetics (1)
  • Division of Infectious Diseases (1)
  • Division of Neonatology (1)
  • Division of Neurology (1)
  • Division of Ophthalmology (1)
  • Division of Orthopaedic Surgery (1)
  • Division of Protective Immunity (1)
  • Division of Pulmonary and Sleep Medicine (1)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (1)
CHOP Research Institute

3401 Civic Center Blvd.
Philadelphia, PA 19104

© 2023 Children's Hospital of Philadelphia. All Rights Reserved.

Privacy Policy | Terms of Use | HIPAA Notice of Privacy Practices | Ethics & Compliance

CHOP Directory

  • Main Hospital 1-800-879-2467
  • Foundation 267-426-6500
  • Research 215-590-3800
  • Referring Physicians 1-800-879-2467

Research Institute

  • About CHOP Research Institute
  • Our Research
  • Organizational Chart
  • News & Media
  • Events
  • Staff Resources

Find a...

  • Researcher
  • Clinical Trials
  • Research Labs
  • Core Facility
  • Academic Department

Our Organization

  • About CHOP
  • Giving
  • For Healthcare Professionals
  • Careers
  • International