Abstract

Technical Services Core Abstract The Technical/Service Core is the coordinating engine for the successful phenotyping and genotyping of our Center?s extraordinary cohort of IGD patients. In addition to the already detailed phenotyping efforts that occur at the time of study enrollment, in this coming cycle, this Core will re-examine IGD patients that are known to harbor mutations in newly validated IGD genes from P1 and 2 and perform re-phenotyping of these individuals based on the newly-uncovered biology. Because these phenotyping efforts will be juxtaposed against phenotypes uncovered in normative populations (P2), the Core provides important linkages between all three of the scientific projects.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center (P50)
Project #
5P50HD028138-30
Application #
9910436
Study Section
Special Emphasis Panel (ZHD1)
Project Start
Project End
Budget Start
2020-04-01
Budget End
2021-03-31
Support Year
30
Fiscal Year
2020
Total Cost
Indirect Cost

  Institution

Name
Massachusetts General Hospital
Department
Type
DUNS #
073130411
City
Boston
State
MA
Country
United States
Zip Code
02114

  Publications

Stamou, Maria I; Georgopoulos, Neoklis A (2018) Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. Metabolism 86:124-134
Cox, Kimberly H; Oliveira, Luciana M B; Plummer, Lacey et al. (2018) Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. Hum Mol Genet 27:338-350
Teive, Hélio Afonso Ghizoni; Camargo, Carlos Henrique F; Sato, Mario Teruo et al. (2018) Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. Cerebellum 17:380-385
Laisk, Triin; Kukuškina, Viktorija; Palmer, Duncan et al. (2018) Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length. Hum Mol Genet 27:4323-4332
Stamou, M I; Plummer, L; Galli-Tsinopoulou, A et al. (2018) Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome. Hormones (Athens) :
Lippincott, Margaret F; Nguyen, Kiana; Delaney, Angela et al. (2018) Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc 2:1293-1305
Guo, Michael H; Plummer, Lacey; Chan, Yee-Ming et al. (2018) Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet 103:522-534
Terasawa, Ei; Garcia, James P; Seminara, Stephanie B et al. (2018) Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates. Front Endocrinol (Lausanne) 9:148
Garcia, James P; Keen, Kim L; Kenealy, Brian P et al. (2018) Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty. Endocrinology 159:3048-3060
Shahab, Muhammad; Lippincott, Margaret; Chan, Yee-Ming et al. (2018) Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence. J Clin Endocrinol Metab 103:1273-1276

Showing the most recent 10 out of 41 publications