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Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
Noonan syndrome is a disorder that involves unusual facial … delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that involves unusual facial …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They … of the American Journal of Medical Genetics . … While Noonan Syndrome is relatively common -- affecting between 1 …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and … 2016. The same team of researchers will next study Noonan syndrome and Williams syndrome , both of which are … Atlas of Human Malformations in Diverse Populations, Noonan syndrome, Williams syndrome … NHGRI researchers have …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, … UDN, Zenker M, Lee B, Biesecker LG. Autosomal Recessive Noonan Syndrome Associated with Mutations in LZTR1. Genet Med …
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… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … (In press). 12. Kruszka P , Muthukumarasamy P . et al. Noonan Syndrome in Diverse Populations. 2017 . (In … (Down Syndrome, 22q11.2 Syndrome, Turner Syndrome, Noonan Syndrome, Williams Syndrome). (University of Sri Lanka …
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… Related Intellectual Disability (Beaulieu Boycott Innes Syndrome) in Two Siblings from India. Eur J Med Genet . 2020; … F, Petlichkovski A. Detection of a Rear Mutation in a Noonan Syndrome Suspected Patient: a Case Report. MEBM. 2020; … (20) cardiac genetic d isorders (William syndrome, Noonan syndrome etc.); Routinely involved in hypertension and …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… latter is a group of rare genetic conditions that include Noonan syndrome, Cardio-Facio-Cutaneous syndrome, Costello syndrome and Legius syndrome. Eight of 16 …