Discipline Coordinators:
Genetics
Linked Projects
National Childhood Cancer Foundation Research Group
National Childhood Cancer Foundation Research Group
Hospital Genetic Support
National Childhood Cancer Foundation Research Group
Hospital Genetic Support
Show More +
Linked Products
t(14;18)-Negative Follicular Lymphomas are Associated with a High Frequency of BCL6 Rearrangement at the Alternative Breakpoint Region
An Increased Freqency of 13q Deletions Detected by Fluorescence in situ Hybridization & its Impact on Survival in Children & Adoldescents w/ Burkitt
Variability in Interpreting and Reporting Copy Number Changes Detected by Array-Based Technology in Clinical Laboratories
Efficacy of an Automated Metaphase Scanner in the Clinical Cytogenetics Lab - Poster, Presentation, and Abstract
Familial 18q22.3-18q23 Deletion - Poster, Presentation, and Abstract
Co-Existence of Genetic Abnormalities in Multiple Myeloma Detected by Fluorescence in situ Hybridization
DLEU1 siRNA gene knockdown is associated with a significant reduction in cyclophosphamide (CY) and /or rituximab induced apoptosis in Burkitt lymphoma
Burkitt's Lymphoma in Early Pregnancy
18q22.3 → 18q23 Deletion Syndrome and Cleft Palate
The Human Genetics Laboratories and Clinical Genetics Programs Annual Report 2009
Towards a CNV Atlas for Human Development
Preliminary Results of the Addition of Rasburicase to the Reduction Cycle and Rituximab to the Induction and Consolidation Cycles of FAB Group C Chemo
A Novel Translocation t(4;22)(q31;q12) Produces an In-Frame Fusion of EWSR1 and SMARCA5 in Peripheral Primitive Neuroectodermal Tumor
Inherited 14q Duplication and 21q Deletion: A Rare Adjacent-2 Segregation in Multiple Family Members
Rearrangements of Both Homologues of Chromosome 14 in Lymphoma
Are Classical Cytogenetic Studies Still Necessary in Today's World of aCGH?
Use of IgH Primer Pools to Asscss MRD/PD in Children & Adolescents with Mature B-NHL: A Children's Oncology Group Report
Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation
Papillary Renal Cell-Like Carcinoma in a Retroperitoneal Teratoma
Renal Smooth Muscle Hamartoma
Pontine Tegmental Cap Dysplasia with a 2q13 Microdeletion Involving the NPHP1 Gene: Insights into Malformations of the Mid-hindbrain
Deletion 17q12 is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Molecular Characteristics of Mantle Cell Lymphoma Presenting with Clonal Plasma Cell Component
Incidence of Chromosome Mosaicism in a Cohort of 1590 Patients Concurrently Analyzed by Chromosome Analysis and Microarray Studies
Combination of Cytogenetics, FISH, and Microarray Resolves a Subtle Famililial t(13;20) - April
Combination of Cytogenetics, FISH, and Microarray Resolves a Subtle Famililial t(13;20) - June
Minimal Disease Assessment in the Tx of Children & Adolescents w/Intermediate-Risk (Stage III/IV) B-Cell Non-Hodgkin Lymphoma: A Children's Oncology
An Evidence-Based Approach to Establish the Functional and Clinical Significance of Copy Number Variants in Intellectual and Developmental Disabilities
Combination of Cytogenetics, FISH, and Microarray Resolves a Subtle Famililial t(13;20) - ABSTRACT
Variable Expressivity of a Novel Mutation in the SCN1A Gene Leading to an Autosomal Dominant Seizure Disorder
Minimal Disease Assessment in the Treatment of Children and Adolescents with Intermediate-Risk (Stage III/IV) B-cell non-Hodgkin Lymphoma: A Children's Oncology Group Report
Lymphoma Cytogenetics
Large Contiguous Gene Deletions in Sjogren-Larsson Sndrome
Genome Wide Copy Number Analysis of Paediatric Burkitt Lymphoma Using Formalin-Fixed Tissues Reveals a Subset with Gain of Chomosome 13q and Corresponding miRNA Over Expression
Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients with Neurodevelopmental Disabilities
Refining the 3q29 Deletion Syndrome Region: Four Case Studies
Microarray Facilitates Cytogenetic Definition of Secondary Abnormalities in ALCL
Searching for Electrical Properties, Phenomena and Mechanisms in the Construction and Function of Chromosome
Technical Report: ethical and policy issues in genetic testing and screening of children
Immunohistochemical and molecular cytogenetic evaluation of potential targets for tyrosine kinase inhibitors in Langerhans cell histiocytosis
B-cell lymphoma unclassifiable, with features intermediate between diffuse large B-cell lymphoma and burkitt lymphoma: study of 39 cases
Differences in the cytogenetic alteration profiles of diffuse large B-cell lymphoma among Chinese and American patients.
Dietary nitrate and nitritie intake and risk of non-Hodgkin lymphoma.
HACE1 is a tumor suppressor gene candidate in natural killer cell neoplasms.
Alteration/deficiency in activation-3 (Ada3) plays a critical role in maintaining genomic stability
Rituximab and FAB/LMB 96 chemotherapy in children with Stage III/IV B-cell non-Hodgkin lymphoma; a Childrens Oncology Group report.
Cytogenetic abnormalities in follicular dendritic cell sarcome: report of two cases and literature review
The safety and efficacy of Rituximab and FAB chemotherapy in children and adolescents with bone marrow and/or central nervous system Burkitt lymphoma/leukemia: a Childrens Oncology Group report.
Rituximab pharmacokinetics in children and adolescents with de novo intermediate and advanced mature b-cell lymphoma/leukemia: a Childrens Oncology Group (COG) report.
Early onset, EBV-PTLD in pediatric liver-small bowel transplantation recipients: a spectrum of plasma cell neoplasms with favorable prognosis
Dental abnormalities in Schimke immuno-osseous dysplasia
Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreudctase deficiency
Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions.
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. J Child Neurol.
Combined Cytogenetic and FISH studies facilitate abnormality detection in myelodysplastic syndromes: A comprehensive analysis of 1132 consecutive specimens
A case study of GRIK1 deletion in a patient with seizures
Cytogenetic studies in myelodysplastic syndromes among children and young adults.
Familial CHRNB3 Deletion in a Patient with Autism
Microarray benefits diagnostic pregnancy loss studies
Duplication of a Single Gene within the FGS3 Region in a Patient with FG Syndrome.
Investigation of Partial Deletion 14q32 (IGH region) in CLL.
40kb CNTAP2 deletion causing seizures, lack of speech and developmental delays-The Importance of Clinical Information in Microarray Results.
Allogenic stem cell transplantation for Philadelphia chromosome-positive acute myeloid leukemia
Parental permission for pilot newborn screening research: guidelines from the NBSTRN.
Genetic Counselor Perceptions of Genetic Counseling Session Goals: A Validation Study of the Reciprocal-Engagement Model.
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication
Liver transplant for congenital factor VII deficiency.
Oral-Facial-Digital Syndrome
Report of a Patient with Developmental Delay, Hearing Loss, Growth Retardation, and Cleft Lip and Palate and a Deletion of 7q34-36.1: Review of Distal 7q Deletions.
Allogeneic stem cell transplantation for Philadelphia chromosome-positive acute myeloid leukemia.
Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
Expression of p73 isoforms regulates proliferation and chemotherapeutic response in diffuse large B-cell lymphoma. To be presented at the 105th Annual meeting of the American Association for Cancer Research
Rituximab with chemotherapy in children and adolescents with central nervous system and/or bone marrow positive Burkitt Lymphoma/leukemia
Prevalence of Variants of Unknown Significance in a Next-Generation Sequencing Panel: An experience with Autism Spectrum, Intellectual Disability, and Dysmorphic Features Disorders
"Utility of Expanded Gene Panels in clinical Diagnostics: A Tale of Laboratory's experience with Two Autism Testing Panels"
Cystosine arabinoside and mitoxantrone followed by second allogeneic transplant for the treatment of children with refractory juvenile myelomonocytic leukemia
Allogeneic stem cell transplantation for Philadelphia chromsome-positive acute myeloid leukemia
Personalized Medicine in Oncolong
Aplastic Anemia in Patients with Sex Chromosome Aneuploidy: Reports and Hypothesis.
Show More +
