D'Adamo P - Search Results

1

A novel X-linked gene, G4.5. is responsible for Barth syndrome.

Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. Bione S, et al. Nat Genet. 1996 Apr;12(4):385-9. doi: 10.1038/ng0496-385. Nat Genet. 1996. PMID: 8630491

2

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.

Claes S, Devriendt K, D'Adamo P, Meireleire J, Raeymaekers P, Toniolo D, Cassiman JJ, Fryns JP. Claes S, et al. Clin Genet. 1997 Sep;52(3):155-61. doi: 10.1111/j.1399-0004.1997.tb02536.x. Clin Genet. 1997. PMID: 9377804

3

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. D'Adamo P, et al. Am J Hum Genet. 1997 Oct;61(4):862-7. doi: 10.1086/514886. Am J Hum Genet. 1997. PMID: 9382096 Free PMC article.

4

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D. D'Adamo P, et al. Nat Genet. 1998 Jun;19(2):134-9. doi: 10.1038/487. Nat Genet. 1998. PMID: 9620768

5

X chromosome inactivation in carriers of Barth syndrome.

Orstavik KH, Orstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. Orstavik KH, et al. Am J Hum Genet. 1998 Nov;63(5):1457-63. doi: 10.1086/302095. Am J Hum Genet. 1998. PMID: 9792874 Free PMC article.

6

X-linked non-specific mental retardation.

Toniolo D, D'Adamo P. Toniolo D, et al. Curr Opin Genet Dev. 2000 Jun;10(3):280-5. doi: 10.1016/s0959-437x(00)00080-0. Curr Opin Genet Dev. 2000. PMID: 10826988 Review.

7

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A. Meloni I, et al. Am J Hum Genet. 2000 Oct;67(4):982-5. doi: 10.1086/303078. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986043 Free PMC article.

8

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

D'Adamo P, Welzl H, Papadimitriou S, Raffaele di Barletta M, Tiveron C, Tatangelo L, Pozzi L, Chapman PF, Knevett SG, Ramsay MF, Valtorta F, Leoni C, Menegon A, Wolfer DP, Lipp HP, Toniolo D. D'Adamo P, et al. Hum Mol Genet. 2002 Oct 1;11(21):2567-80. doi: 10.1093/hmg/11.21.2567. Hum Mol Genet. 2002. PMID: 12354782

9

DNA variants in the human RAB3A gene are not associated with autism.

D'Adamo P, Bacchelli E, Blasi F, Lipp HP, Toniolo D, Maestrini E. D'Adamo P, et al. Genes Brain Behav. 2004 Apr;3(2):123-4. doi: 10.1111/j.1601-183x.2003.00058.x. Genes Brain Behav. 2004. PMID: 15005721 Free article. Clinical Trial.

10

Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

Bianchi V, Farisello P, Baldelli P, Meskenaite V, Milanese M, Vecellio M, Mühlemann S, Lipp HP, Bonanno G, Benfenati F, Toniolo D, D'Adamo P. Bianchi V, et al. Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1. Hum Mol Genet. 2009. PMID: 18829665 Free PMC article.

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