• mutations
  • The researchers compared the 10 children with RERE mutations with 31 other patients who have the more common 1p36 deletion syndrome, finding the symptoms were almost identical. (upi.com)
  • Mutations in the SECISBP2 gene lead to reduced expression of selenoproteins and cause a syndrome with relatively mild to more severe phenotypes. (thyroid.org)
  • An international team of researchers led by an endocrinologist at Ludwig-Maximilians-Universitaet (LMU) in Munich has identified genetic mutations that result in uncontrolled synthesis and secretion of the stress hormone cortisol. (medicalnewstoday.com)
  • An international research collaboration has now identified genetic mutations that lead to the production and secretion of cortisol in the absence of an underlying stressor. (medicalnewstoday.com)
  • Philadelphia, PA, February 7, 2014 /3BL Media/ - Despite the identification of gene mutations in methyl CpG binding protein 2 (MECP2) being linked to Rett syndrome (RS), research has been hindered by the lack of commercially available reference materials. (3blmedia.com)
  • The panel of 35 publicly available genomic DNA samples developed and characterized as part of this study contains a wide variety of point mutations, deletions, and duplications in both male and female samples that can be used by clinical laboratories to ensure the quality of Rett syndrome testing," asserts Dr. Kalman. (3blmedia.com)
  • Molecular diagnosis of Rett syndrome is performed by examination of patient DNA for MECP2 mutations using a variety of molecular diagnostic methods," explains Dr. Kalman. (3blmedia.com)
  • Costello syndrome is caused by changes ( mutations ) in the HRAS gene . (nih.gov)
  • Hennekam syndrome is caused by changes ( mutations ) in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. (nih.gov)
  • In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. (nih.gov)
  • Fetal
  • The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. (clinicaltrials.gov)
  • Trisomy
  • Standard Trisomy 21 The first type of chromosomal abnormality that causes Down Syndrome happens when either the sperm or the egg divides wrongly. (dmoztools.net)
  • Translocation Trisomy 21 In the second type of chromosomal abnormality that causes Down Syndrome an extra part of chromosome 21 is attached or stuck onto another chromosome. (dmoztools.net)
  • Since only part of the cells have a trisomy, there is not as much of the extra genetic products being produced. (dmoztools.net)
  • Conclusion Regardless of the type of trisomy, all these people have an extra chromosome, meaning that there are extra genes producing extra genetic products. (dmoztools.net)
  • Clinical
  • Dr. Anne Bassett, director of the Center for Addiction and Mental Health's Clinical Genetics Research Program, said 22q11.2 deletion syndromes has been studied in children and adolescents, but less is known about the syndrome in adults. (healthmonitor.com)
  • The samples were sent for DNA sequence and deletion/duplication analyses (using MLPA, semi-quantitative PCR, or array) to College of American Pathologist-accredited clinical genetic testing laboratories, and each sample was tested in between two to five laboratories. (3blmedia.com)
  • Clinical synopsis for Aarskog syndrome. (dmoztools.net)
  • signs
  • The findings, published online Sept. 9 in the journal JAMA Neurology , indicate that adults with 22q11.2 deletion syndrome should undergo routine checks for signs of Parkinson's disease. (healthmonitor.com)
  • disease
  • This disease is caused due to the alteration of the genetic material. (omicsonline.org)
  • New mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada. (thyroid.org)
  • SECISBP2 syndrome is caused by an atypical resistance to thyroid hormone In patients with this disease, aberrant thyroid hormone levels (high T4, low T3, elevated rT3, and high-to-normal TSH) indicate a defect in deiodinase-dependent thyroid hormone metabolism. (thyroid.org)
  • MONDAY, Sept. 9 (HealthDay News) -- A genetic deletion may be linked to some cases of early onset Parkinson's disease, researchers say. (healthmonitor.com)
  • In addition, in some cases, Parkinson's disease in 22q11.2 deletion syndrome is associated with abnormal accumulations of a type of protein in the brain (called Lewy bodies), similar to what has been found in another genetic form of Parkinson's, the study authors said. (healthmonitor.com)
  • Most people with 22q11.2 [deletion syndrome] will not develop Parkinson's disease," Bassett, director of the University Health Network's Dalglish Family Hearts and Minds Clinic, the world's first clinic dedicated to adults with 22q11.2 deletion syndrome, said in a news release. (healthmonitor.com)
  • Although the study found an association between 22q11.2 deletion syndrome and Parkinson's disease, it did not find a cause-and-effect relationship. (healthmonitor.com)
  • In these families, Cushing's syndrome occurs as a heritable genetic disease. (medicalnewstoday.com)
  • The availability of a renewable source of characterized reference materials for Rett syndrome will help to ensure the accuracy of these genetic tests and facilitate research and test development," comments Lisa Kalman, PhD, of the Division of Laboratory Programs, Standards, and Services at the Centers for Disease Control and Prevention. (3blmedia.com)
  • diseases
  • New approaches to study the biological underpinnings of SECISBP2 syndrome are thus critical to truly make progress against this disorder," said Douglas Forrest, PhD, of the National Institute of Diabetes and Digestive and Kidney Diseases, and Program Co-Chair of the ATA Annual Meeting. (thyroid.org)
  • Families
  • Profiles SDA, a nonprofit that educates doctors and families about shwachman-diamond syndrome and also supports research. (dmoztools.net)
  • An email list for families, friends, parents and individuals affected by Shwachman-Diamond Syndrome. (dmoztools.net)
  • conditions
  • There are multiple genetic conditions that affect connective tissues. (medhelp.org)
  • Costello syndrome belongs to a group of related conditions called the RASopathies . (nih.gov)
  • These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. (nih.gov)
  • diagnostic
  • The elucidation of the genetic mechanism responsible for a significant fraction of cases of Cushing's syndrome provides a new diagnostic tool, and may also lead to new approaches to treatment. (medicalnewstoday.com)
  • research
  • A recently initiated European research consortium devoted to the study of Cushing's syndrome, of which Professors Beuschlein and Fassnacht are members is supported by a grant of 700,000 euros from the ERA-NET program administered by the Federal Ministry for Education and Research. (medicalnewstoday.com)
  • similar
  • In collaboration with a group at the US National Institutes of Health, the team was also able to identify patients who carry similar genetic alterations in their germline DNA. (medicalnewstoday.com)
  • Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not neurofibromatosis, a disorder with similar characteristics. (dmoztools.net)
  • patients
  • Which of the following statements is/are accurate about hematopoietic stem-cell transplantation (HSCT) for the treatment of patients with myelodysplastic syndrome (MDS)? (mdedge.com)
  • cause
  • Jerome Lejune In 1959, a French physician named Jerome Lejune discovered the genetic cause of Down Syndrome, observing 47 chromosomes per cell. (dmoztools.net)
  • Events
  • A compilation of information, discussions, stories, events and pictures of the people touched by Wolf-Hirschhorn Syndrome. (dmoztools.net)
  • cases
  • In some cases, genetic testing is performed on blood samples to help classify the specific type or subtype of connective tissue disorder. (medhelp.org)