A5101543110- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Connective tissue disorders research
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Genetic and Kidney Cyst Diseases
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- RNA regulation and disease
- Vector-borne infectious diseases
- Ocular Disorders and Treatments
- Craniofacial Disorders and Treatments
- Cancer, Hypoxia, and Metabolism
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital Heart Disease Studies
- Tracheal and airway disorders
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- interferon and immune responses
Greenwood Genetic Center
2014-2025
The University of Adelaide
2023
Rogers (United States)
1992-2010
New York State Department of Health
1992-1994
State University of New York
1992
University of South Carolina
1989
ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It caused truncating mutations in ADNP, which involved chromatin regulation. We hypothesized that the disruption of regulation might result specific DNA methylation patterns could be used molecular diagnosis syndrome. identified two distinct partially opposing genomic episignatures peripheral blood samples from 22 patients with The "epi-ADNP-1" episignature included ~...
Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, PMG reported most frequently. In view our interest causes PMG, we reviewed clinical data brain-imaging studies on 21 associated another 11 from literature. We found that cortical malformation consists perisylvian variable severity frequent asymmetry a striking...
Two immunoglobulin G (IgG) monoclonal antibodies (MAbs) to outer surface protein B (CB2 and CB6), affinity purified from mouse ascitic fluid, exhibited concentration-dependent inhibitory bactericidal properties against Borrelia burgdorferi after a 24-h incubation period in spirochete medium. Fab fragments derived these MAbs showed the same effects, indicating that they were not caused by agglutination of organisms intact MAbs. The inhibition growth cultures containing was also detected...
We report a family with X-linked mental retardation that has novel mutation in the monocarboxylate transporter 8 (MCT8) gene associated characteristic neurodevelopmental phenotype early childhood hypotonia progresses to spasticity and global developmental delays. Affected patients experience moderate severe psychomotor delays congenital hypotonia, develop myopathic facies, have diminished muscle bulk generalized weakness, progressive movement disorders, limited speech but alert, affable...
<h3>Background:</h3> Mutations in the <i>JARID1C</i> (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). this are reported to be one of relatively more common causes XLMR a frequency approximately 3% males proven or probable XLMR. The JARID1C protein functions as histone 3 lysine 4 (H3K4) demethylase and is involved demethylation H3K4me3 H3K4me2. <h3>Methods:</h3> Mutation analysis was conducted following cohorts: probands from 23...
Abstract Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism). Most patients AHO have decreased activity of the guanine nucleotide‐binding protein (G s protein) that stimulates adenylyl cyclase. The gene encoding α subunit G (GNAS1) has been mapped to long arm chromosome 20. We describe 4 unrelated individuals...
We report on a 3-year-old boy with terminal deletion of 22q. The activity alpha-N-acetylgalactosaminidase was normal while arylsulfatase A reduced. Molecular analysis demonstrated the lack paternal alleles D22S45 and D22S55.
Spirochetes are agents of neurologic disease that may utilize specific neural cell surface molecules for adhesion. <i>Borrelia burgdorferi</i>, the etiologic agent Lyme disease, bound to galactocerebroside (GalCer) in numbers were two- threefold greater than ceramide and glucocerebroside, four- fivefold sphingosine, psychosine, sulfatide, cholesterol, three membrane phospholipids. The adherence was GalCer with a higher content a-hydroxyl fatty acids. <i>Treponema phagedenis</i> Reiter...
Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, imaging findings the siblings are discussed in detail. patients' descriptions compared other eleven reported literature. We also presented detailed autopsy results on male sibling, which demonstrated cytoplasmic vacuoles cardiomyocytes confirmed clinical findings. Results. here include 13th 14th summary these includes postnatal growth...
Abstract An estimated 1–3% of individuals within the United States are diagnosed with mental retardation (MR), yet cause is unknown in nearly 50% patients. While several environmental, genetic and combined teratogenetic etiologies have been identified, many causative genes remain to be identified. Furthermore, pathogenetic mechanisms underlying MR known for very few these genes. Males a much higher incidence implicating on X‐chromosome. We recently identified novel gene, SIZN1 , X‐chromosome...
<h3>Background:</h3> FG syndrome (FGS) is an X-linked disorder characterised by mental retardation, hypotonia, particular dysmorphic facial features, broad thumbs and halluces, anal anomalies, constipation, abnormalities of the corpus callosum. A behavioural phenotype hyperactivity, affability, excessive talkativeness very frequent. The spectrum clinical findings attributed to FGS has widened considerably since initial description Opitz Kaveggia in 1974 resulted variability genetic...
An escape variant of Borrelia burgdorferi, selected with a monoclonal antibody to OspB, expressed truncated form the result point mutations in ospB gene leading premature termination codon. A single amino acid position C terminus OspB was critical for recognition. The variations suggest mechanism evasion immune response by these organisms and may also have implications current diagnostic vaccine efforts.
Abstract Opitz and Kaveggia [Opitz (1974); Z Kinderheilk 117:1–18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus hypotonia. Risheg et al. [Risheg (2007); Nat Genet 39:451–453] identified an identical mutation (p.R961W) in MED12 six families Opitz–Kaveggia syndrome, including surviving man from the 1974. The previously defined behavior phenotype hyperactivity, affability, excessive talkativeness is very...
Two methods of wave form analysis were studied to compare their sensitivity and specificity in detecting the effect unilateral common carotid artery stenosis on ipsilateral ocular pulse rabbit. The first method, using standard graphic analytical techniques detect alterations amplitude area, was capable lesions that produced 50% or more artery. In second subjected Fourier which determined three harmonics. This method as little 20% therefore sensitive two analysis.
Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations C10orf2, encoding Twinkle helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well milder more severe We present a 13-year-old girl ataxia, hearing loss, optic atrophy, peripheral neuropathy, hypergonadotropic hypogonadism. Whole-exome sequencing revealed that patient is compound...