IRCCS pediatrico Burlo Garofolo

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Genes Medicine & Life Sciences
Italy Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Mutation Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Celiac Disease Medicine & Life Sciences
HIV-1 Medicine & Life Sciences
Population Medicine & Life Sciences

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Projects 2018 2018

BURLO GAROFALO - INNOVAZIONE E DIAGNOSTICA AVANZATA IN AREA MATERNO INFANTILE

Ricerca, U.

1/1/1812/30/18

Project: Other project

BURLO GAROFALO - SALUTE RIPRODUTTIVA, MEDICINA MATERNO FETALE E NEONATOLOGIA

Ricerca, U.

1/1/1812/30/18

Project: Other project

Research Output 1973 2018

1 Citations

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 othersFabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Intellectual Disability
Head
Phenotype
Chromosome Duplication

A Child with Diminished Linear Growth and Waddling Gait

Tamaro, G., Pederiva, F., Dibello, D., Gregori, M., Carbone, M., Pantaleoni, F., Dentici, M. L., Niceta, M. & Barbi, E., Oct 2018, In : Journal of Pediatrics. 201, p. 297-297.e1

Research output: Contribution to journalArticle

5 Citations
exemestane
letrozole
Tamoxifen
Aromatase Inhibitors
Breast Neoplasms