A5012216196- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Neurofibromatosis and Schwannoma Cases
- Congenital Anomalies and Fetal Surgery
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Urological Disorders and Treatments
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Congenital Diaphragmatic Hernia Studies
- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- Connective tissue disorders research
- Congenital Ear and Nasal Anomalies
- Congenital limb and hand anomalies
- Neuroblastoma Research and Treatments
- Ethics and Legal Issues in Pediatric Healthcare
- Sarcoma Diagnosis and Treatment
- Genomics and Chromatin Dynamics
- BRCA gene mutations in cancer
- Fetal and Pediatric Neurological Disorders
- Historical Studies of British Isles
- Genetic Syndromes and Imprinting
University of Utah
2016-2025
Seattle Children's Hospital
2024
University of Washington
2024
Vanderbilt University Medical Center
2019-2024
Children's Mercy Hospital
2023
ARUP Laboratories (United States)
2004-2023
University of Alabama at Birmingham
2023
Center for Human Genetics
2023
Normandie Université
2023
Université de Rouen Normandie
2023
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence heterogeneity, indicating significant proportion NF cases are due to mutations at single locus. Further genetic can now refine this localization and may lead eventual identification cloning defective disorder.
<b>Objective</b> To assess causation and clinical presentation of major birth defects. <b>Design</b> Population based case cohort. <b>Setting</b> Cases defects in children born 2005-09 to resident women, ascertained through Utah’s population surveillance system. All records underwent re-review. <b>Participants</b> 5504 cases among 270 878 births (prevalence 2.03%), excluding mild isolated conditions (such as muscular ventricular septal defects, distal hypospadias)....
Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by presence numerous prominent trabeculations and deep intertrabecular recesses within ventricle, sometimes also affecting right ventricle interventricular septum. Familial occurrence this disorder was described previously. We present a family in which 6 affected individuals demonstrated X-linked recessive inheritance trait. Affected relatives presented postnatally with failure arrhythmias, associated...
Abstract The natural history of trisomy 18 and 13 was investigated using data derived from parent questionaires medical records 98 families with an index case 32 13. Data are presented on pregnancy, delivery, survival, complications, immunizations, growth, cause death, cytogenetics, recurrence risk. Half the babies were delivered by C‐section. Fetal distress a factor in half, only reason third C‐section deliveries. One minute Apgar scores significantly lower breech There more small for...
Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion (1 in 5000 newborns). 1p36.3 deletions account for 0.5% 1.2% of idiopathic mental retardation; thus, knowledge about condition important pediatricians caring such patients. Despite 100 reported cases, little known its natural history. Our aim was delineate history deletion and develop complete accurate information with which answer families' questions clinical setting.We...
Abstract In 1964, Smith et al described a syndrome of microcephaly, growth and mental retardation, unusual facial appearance, syndactyly toes 2 3, genital abnormalities. Major structural malformations early death have been uncommon in the many subsequent literature reports. We report on 19 infants with phenotype we propose to call Smith‐Lcmli‐Opitz (SLOS)‐Type II, which major abnormalities, male pseudohermaphroditism, lethality are common. Of these patients, 18 had postaxial hexaclactyly, 16...
Abstract Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) and includes heart defects, characteristic facial appearance, ectodermal abnormalities, growth failure. Cardiac defects variable, most common being pulmonic stenosis atrial septal defect. Typical characteristics high forehead bitemporal constriction, hypoplasia of supraorbital ridges,...