Search Results
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… they named TRAPS (the TNF receptor-associated periodic syndrome), and proposed the now widely accepted concept of … Rubin BI, Kim HJ, Brewer C, Zelewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak S, … Pham T-H, Booty M, Estes JD, Sandler NG, Plass N, Stone D, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti …
File
… 10 Neat Facts About the X Chromosome genome.gov Turner syndrome Tr i s o m y X syndrome Sex chromosomes 23 pairs of … by the presence of three X chromosomes instead of two. Turner syndrome occurs when women inherit only one copy of …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney … disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, … C, Zalewski C, Kim J, Solomon B, Brooks BP, Gerber LH, Turner M, Domingo DL, Hart TC, Graf J, Reynolds, JC, Gropman …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… Program, Bouffard GG, Blakesley RW, Wolfsberg TG, Turner ML, Segre JA. A diversity profile of the human skin … 2009. [ PubMed ] Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, … JG, Huizing M, Gahl WA. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Talking Glossary
La monosomía se refiere a una situación en la que solo uno de los cromosomas de un par de cromosomas está presente en las células, en lugar de las dos copias que se encuentran habitualmente en las células diploides.
… or partial monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. … La monosomía se refiere a una situación en la que …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… Komarow HD, NISC Comparative Sequence Program, Murray PR, Turner ML, Segre JA. Temporal shifts in the skin microbiome … Program, Bouffard GG, Blakesley RW, Murray PR, Green ED, Turner ML, Segre JA. Topographical and temporal diversity of … Program, Bouffard GG, Blakesley RW, Wolfsberg TG, Turner ML, Segre JA. A diversity profile of the human skin …
File
… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … -K, Jones KL , Abdul -Rahman OA , Ekure EN , et al . Down syndrome in diverse populations . Am J Med Genet Part A. 2017 … in Diverse populations (Down Syndrome, 22q11.2 Syndrome, Turner Syndrome, Noonan Syndrome, Williams Syndrome). …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… predictive potential of genomic medicine,” said Clesson Turner, M.D., director of NHGRI’s Reverse Phenotyping Core …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …