Publications:

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Genes

Napolitano, Filomena F; Dell'Aquila, Milena M; Terracciano, Chiara C; Franzese, Giuseppina G; Gentile, Maria Teresa MT; Piluso, Giulio G; Santoro, Claudia C; Colavito, Davide D; Patanè, Anna A; De Blasiis, Paolo P; Sampaolo, Simone S; Paladino, Simona S; Melone, Mariarosa Anna Beatrice MAB

Publication Date: 2022-06-23

Variant appearance in text: NF1: 2307dup; Thr770Hisfs*6

PubMed Link: 35885913

Variant Present in the following documents:

• Main text
• genes-13-01130.pdf

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian Journal Of Pediatrics

Santoro, Claudia C; Bernardo, Pia P; Coppola, Antonietta A; Pugliese, Umberto U; Cirillo, Mario M; Giugliano, Teresa T; Piluso, Giulio G; Cinalli, Giuseppe G; Striano, Salvatore S; Bravaccio, Carmela C; Perrotta, Silverio S

Publication Date: 2018-03-22

Variant appearance in text: NF1: 2307_2308insC; Thr770Hisfs*6

PubMed Link: 29566708

Variant Present in the following documents:

• Main text
• 13052_2018_Article_477.pdf

View BVdb publication page