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22q11.2 Deletion Syndrome

DiGeorge sequenceShprintzen syndromeDiGeorge SyndromeVelocardiofacial Syndrome (VCFS)Conotruncal Anomaly Face Syndrome (CTAF)
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Clinical Trials

This information is provided by ClinicalTrials.gov

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Displaying 1-10 of 12 results.
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Status: Recruiting
Last Changed: Aug 31, 2020
First Received: Nov 12, 2007
Disease(s): DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Locations: Albert Einstein College of Medicine, New York, New York, United States
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
Arithmetic Abilities in Children With 22q11.2DS
Status: Recruiting
Last Changed: Oct 05, 2020
First Received: May 04, 2020
Disease(s): 22q11.2 Deletion Syndrome
Intervention(s): Magnitude comparison tasks and neuropsychological testing
Locations: Hopital Vinatier, Lyon, Rhone Alpes, France
First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome
Status: Recruiting
Last Changed: Feb 11, 2020
First Received: Dec 18, 2017
Disease(s): Pregnancy
Intervention(s): cfDNA screening
Locations: University Hospital Tuebingen, Department of Women's Health, Tuebingen, Germany
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Status: Recruiting
Last Changed: Jul 26, 2019
First Received: Oct 08, 2008
Disease(s): Velocardiofacial Syndrome, Williams Syndrome, Fragile X Syndrome
Intervention(s): methylphenidate, fluoxetin, risperidone
Locations: Schneider Children's Mediac Center of Israel, Petach-Tikva, Israel
Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11
Status: Recruiting
Last Changed: Oct 05, 2020
First Received: Oct 28, 2019
Disease(s): Di George Syndrome
Intervention(s): Molecular analyses
Locations: Hopital Vinatier, Lyon, Rhone Alpes, France
Thymus Transplantation Safety-Efficacy
Status: Available
Last Changed: Jul 16, 2020
First Received: Oct 14, 2010
Disease(s): Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Intervention(s): Thymus Tissue for Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Basiliximab, Mycophenolate mofetil
Locations: Duke University Medical Center, Durham, North Carolina, United States
Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study
Status: Recruiting
Last Changed: Jan 27, 2020
First Received: Sep 07, 2016
Disease(s): 22q11 Deletion Syndrome Di George Syndrome
Locations: CHUNimes, Nîmes, France
Is Thymus Size of Infants Who Born to COVID-19 Positive Mothers Associated With Neonatal Morbidities?
Status: Recruiting
Last Changed: Jul 14, 2020
First Received: Jul 14, 2020
Disease(s): Covid19, Thymic Hypoplasia
Intervention(s): chest x-ray
Locations: Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Status: Recruiting
Last Changed: Apr 08, 2020
First Received: Nov 10, 2010
Disease(s): 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, ASXL1 Gene Mutation, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DST (Dystonin) Related Epidermolysis Bullosa Simplex, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KAT6A, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PBRM1, POGZ, PPP2R5D-Related Intellectual Disability, PTCHD1, PTEN Gene Mutation, PURA, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC1, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, KCNQ2-Related Epileptic Encephalopathy, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 3q29 Deletions, 3q29 Duplications, 5q35 Deletions, 5q35 Duplications, 7q11.23 Deletions, 7q11.23 Duplications, 8p23.1 Deletions, 8P23.1 Duplication Syndrome, 15q11.2-q13.1 Deletions, 15q11.2-q13.1 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17p11.2 Deletions, 17P11.2 Duplication Syndrome, 17q11.2 Deletions, 17Q11.2 Microduplication Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, 22q11.2 Deletion Syndrome, 22Q11.2 Duplication, 22Q13.3 Deletion Syndrome, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BAZ2B, BCKDK, BRAF Gene Mutation, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CDKL5 Disorder, CHD3, CHD7, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, DMPK, EBF3, EHMT1, EP300 Gene Mutation, FMR1, FOXG1 Syndrome, GIGYF1, GIGYF2, GRIN1, GRIN2D, HRAS Gene Mutation, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KCNQ3, KDM3B, NEXMIF, KMT2A, KRAS, LZTR1, MAGEL2, MAP2K1 Gene Mutation, MAP2K2 Gene Mutation, MBOAT7, MECP2-Related Severe Neonatal Encephalopathy, MED12 Gene Mutation, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NF1 Mutation, NIPBL, NLGN2, NLGN3, NLGN4X, NRAS, NR4A2, NRXN1, NRXN2, NRXN3, NSD1 Gene Mutation, PCDH19, PHF21A, PHF3, PHIP, POMGNT1, PPP1CB, PSMD12, PTPN11 Gene Mutation, RAF1 Gene Mutation, RAI1, RELN, RERE, RFX3, RIMS1, RIT1, RORB, SCN1A, SCN8A Encephalopathy, SETD2 Gene Mutation, SHANK2, SHANK3, SHOC2, SIN3A, SLC9A6, SON, SOS1, SOS2, SOX5, SPAST, SRCAP, TAOK1, TANC2, TBCK, TCF20, TCF4, TLK2, TRIO, TRIP12, TSC1 Gene Mutation, TSC2 Gene Mutation, TSHZ3, UBE3A, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 5P Deletion Syndrome, 2Q37 Deletion Syndrome, 9q34 Duplications, 5q15 Deletions, 5q24 Deletions, NR3C2, SYNCRIP, 15q15 Deletions, Additional Genetic Changes Associated With Autism May be Added as Identified
Locations: CUMC/New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States
Geisinger Health System, Lewisburg, Pennsylvania, United States
Immune Disorder HSCT Protocol
Status: Recruiting
Last Changed: May 20, 2020
First Received: Apr 01, 2013
Disease(s): Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Hyper-IgM, DiGeorge Syndrome, Chediak-Higashi Syndrome, Common Variable Immune Deficiency, Immune Dysregulatory Disorders, Hemophagocytic Lymphohistiocytosis, IPEX, Autoimmune Lymphoproliferative Syndrome, X-linked Lymphoproliferative Syndrome
Intervention(s): Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
Locations: Washington University, Saint Louis, Missouri, United States
Methodist Heathcare, San Antonio, Texas, United States