Search Results

1 - 7 of 7
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 …
File
… 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 …
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 …
File
… 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 …