A5032666939- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Autism Spectrum Disorder Research
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Empathy and Medical Education
- Patient-Provider Communication in Healthcare
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Vascular anomalies and interventions
- Innovations in Medical Education
- Occupational and Professional Licensing Regulation
- Counseling Practices and Supervision
- RNA Research and Splicing
- Urological Disorders and Treatments
- RNA modifications and cancer
- Congenital limb and hand anomalies
- Pediatric Urology and Nephrology Studies
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
Progenity (United States)
2018-2022
University of Michigan
2006-2015
Michigan United
2013
GATA2 is expressed in the pituitary during development and adult gonadotropes thyrotropes. It proposed to be important for gonadotrope thyrotrope cell fate choice TSH production. To test this idea, we produced a pituitary-specific knockout of Gata2, designed so that DNA-binding zinc-finger region deleted presence recombinase transgene. These mice have reduced secretion gonadotropins basally response castration challenge, although are fertile. deficiency also compromises function. Mutants...
Chromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians families. We explored the impact such on families, including parental knowledge, understanding interpretation. Semi-structured telephone interviews were conducted with parents (N = 14) who received genetic counseling a VUS in their child. Transcripts analyzed through an iterative...
Abstract This study examined medical students’ and house officers’ opinions about the Surgeon General's “My Family Health Portrait” (MFHP) tool. Participants used tool were surveyed mechanics, potential clinical uses, barriers. None of 97 participants had previously this The average time to enter a family history was 15 min (range 3 45 min). agreed or strongly that MFHP is understandable (98%), easy use (93%), suitable for general public (84%). Sixty‐seven percent would encourage their...
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and caused by an expansion cytosine‐guanine‐guanine (CGG) repeats in FMR1 gene. Female premutation allele carriers (55–200 CGG repeats) are at risk to have affected child. Currently, specific population‐based carrier screening for FXS not recommended. Previous studies exploring female frequency been limited size or ethnicity. This retrospective study provides a pan‐ethnic estimate large, ethnically diverse...
Abstract Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies lacking. We identified two de novo cases of hand‐foot‐genital syndrome (HFGS) associated with polyalanine expansions in HOXA13 that afforded rare opportunities investigate the mechanism. The first patient HFGS was heterozygous for a nine codon expansion. Haplotype investigation showed arose on maternally inherited chromosome but not through crossing over...
Mouse early transposon insertions are responsible for ∼10% of spontaneous mutant phenotypes. We previously reported the phenotypes and genetic mapping Polypodia, (Ppd), a spontaneous, X-linked dominant mutation with profound effects on body plan morphogenesis. Our new data shows that mice not born in expected Mendelian ratios secondary to loss after E9.5. In addition, we refined Ppd interval discovered novel ETnII-β insertion between genes Dusp9 Pnck. The ETn inserted 1.6 kb downstream...
Female FMR1 premutation (FMR1 PM) carriers for fragile X syndrome (FXS) are at risk to have a child with FXS based on their CGG repeat size and AGG interruption number. Studies examining this in unselected populations of female PM lacking. This retrospective cohort study analyzed carrier status, length, result, reproductive refinement population patients who underwent routine screening FXS. A total 1536 (0.43%) were identified, 95% whom had between 55 90 repeats. number 1334 testing. The...