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Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

American journal of human genetics, 2015-12, Vol.97 (6), p.869-877

2015

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Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

International journal of molecular sciences, 2017-05, Vol.18 (5), p.1071

2017

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A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

Pediatrics (Evanston), 2003-07, Vol.112 (1 Pt 1), p.101

2003

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The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single‐institution case series

Pediatric blood & cancer, 2023-07, Vol.70 (7), p.e30400-n/a

2023

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OP031: The emotional experience of hemophilia heterozygote women: Average maternal guilt, effective coping strategies, and resilience within the hemophilia community

Genetics in medicine, 2022-03, Vol.24 (3), p.S359-S360

2022

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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2781-2787

2012

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The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community

Haemophilia : the official journal of the World Federation of Hemophilia, 2023-03, Vol.29 (2), p.513-520

2023

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Association of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: A preliminary report

Brain, behavior, and immunity, 2013-07, Vol.31, p.76-81

2013

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Genetic counseling in congenital heart disease

Critical care nursing quarterly, 2002-11, Vol.25 (3), p.8-16

Coleman, Karlene B

2002

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Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

Human mutation, 2015-08, Vol.36 (8), p.797-807

2015

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Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature

European journal of pediatrics, 2014-05, Vol.173 (5), p.671-675

2014

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Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.750-753

2016

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The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome

European archives of psychiatry and clinical neuroscience, 2015-09, Vol.265 (6), p.519-524

2015

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Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect

The Annals of thoracic surgery, 2003-08, Vol.76 (2), p.567-571

2003

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A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment

Current psychiatry reports, 2007-04, Vol.9 (2), p.148-158

2007

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Do Neonates with Genetic Abnormalities Have an Increased Morbidity and Mortality following Cardiac Surgery?

Congenital heart disease, 2009-05, Vol.4 (3), p.160-165

2009

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Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge

American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2186-2195

2011

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Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

American journal of human genetics, 2013-04, Vol.92 (4), p.637-637

2013

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Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.904-909

2008

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Preaxial hallucal polydactyly as a marker for diabetic embryopathy

Birth defects research. A Clinical and molecular teratology, 2009-01, Vol.85 (1), p.13-19

2009

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Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

Birth defects research. A Clinical and molecular teratology, 2007-03, Vol.79 (3), p.242-248

2007

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Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single‐institution case series

OP031: The emotional experience of hemophilia heterozygote women: Average maternal guilt, effective coping strategies, and resilience within the hemophilia community

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community

Association of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: A preliminary report

Genetic counseling in congenital heart disease

Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome

Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect

A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment

Do Neonates with Genetic Abnormalities Have an Increased Morbidity and Mortality following Cardiac Surgery?

Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: A new association?

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