Marco Martari
Johns Hopkins University
5 Papers
61 Citations
Marco Martari is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Mutation & IGHD. The author has an hindex of 5, co-authored 5 publications.
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Papers
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Constantine A. Stratakis,Maria A. Tichomirowa,Sosipatros Boikos,Monalisa F. Azevedo,Maya Lodish,Marco Martari,Somya Verma,Adrian Daly,Margarita Raygada,Meg Keil,Jason Papademetriou,Limor Drori-Herishanu,Anelia Horvath,Kit Man Tsang,Maria Nesterova,Sherry Franklin,Jean-François Vanbellinghen,Vincent Bours,Roberto Salvatori,Albert Beckers +19 more
TL;DR: The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes is investigated.
200
Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.
Marco Martari,Roberto Salvatori +1 more
TL;DR: The biology of the GHRHR is reviewed, the mutations that affect its gene and their effects in homozygous and heterozygous individuals are reviewed, and the presence of an intermediate phenotype has been hypothesized.
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Germline AIP, MEN1, PRKAR1A, CDKN1B (p27Kip1) and CDKN2C (p18INK4c) gene mutations in a large cohort of pediatric patients with pituitary adenomas occurring in isolation or with associated syndromic features
Albert Beckers,Jean-François Vanbellinghen,Sosipatros Boikos,Marco Martari,Somya Verma,Adrian Daly,Margarita Raygada,M. F. Kei,J. Papademetriou,Limor Drori-Herishanu,Anelia Horvath,Maria Nesterova,M. A. Tichomirova,Vincent Bours,Stephen J. Marx,Sunita K. Agarwal,Roberto Salvatori,C. A. Stratakis +17 more
- 01 Jan 2008
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A single injection of double-stranded adeno-associated viral vector expressing GH normalizes growth in GH-deficient mice.
TL;DR: Data show that normalization of longitudinal growth can be reached in GHD mice using a single injection of a double-stranded adeno-associated virus expressing GH.
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB.
Ali Mohamadi,Marco Martari,Cindy D. Holladay,John A. Phillips,Primus E. Mullis,Roberto Salvatori +5 more
TL;DR: It is hypothesized that mAchR mutations may cause a subset of familial IGHD, which is known that it can be caused by mutations in the GHRH receptor (GHRHR) gene or in the GH gene.