Monaco AP - Search Results

1

Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.

Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP. Maestrini E, et al. Among authors: monaco ap. Am J Med Genet. 1999 Oct 15;88(5):492-6. doi: 10.1002/(sici)1096-8628(19991015)88:5<492::aid-ajmg11>3.0.co;2-x. Am J Med Genet. 1999. PMID: 10490705

2

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. Maestrini E, et al. Among authors: monaco ap. Nat Genet. 1996 May;13(1):70-7. doi: 10.1038/ng0596-70. Nat Genet. 1996. PMID: 8673107

3

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.

Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP. Ishikawa-Brush Y, et al. Among authors: monaco ap. Hum Mol Genet. 1997 Aug;6(8):1241-50. doi: 10.1093/hmg/6.8.1241. Hum Mol Genet. 1997. PMID: 9259269

4

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Szepetowski P, et al. Among authors: monaco ap. Am J Hum Genet. 1997 Oct;61(4):889-98. doi: 10.1086/514877. Am J Hum Genet. 1997. PMID: 9382100 Free PMC article.

5

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP. Rubio JP, et al. Among authors: monaco ap. Am J Hum Genet. 1997 Oct;61(4):899-908. doi: 10.1086/514876. Am J Hum Genet. 1997. PMID: 9382101 Free PMC article.

6

Localisation of a gene implicated in a severe speech and language disorder.

Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME. Fisher SE, et al. Among authors: monaco ap. Nat Genet. 1998 Feb;18(2):168-70. doi: 10.1038/ng0298-168. Nat Genet. 1998. PMID: 9462748

7

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.

Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larrègue M, Nagy G, Rees JL, Lathrop M, Monaco AP, Strachan T, Hovnanian A. Monk S, et al. Among authors: monaco ap. Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794. Am J Hum Genet. 1998. PMID: 9529352 Free PMC article.

8

Molecular genetic investigations of autism.

Maestrini E, Marlow AJ, Weeks DE, Monaco AP. Maestrini E, et al. Among authors: monaco ap. J Autism Dev Disord. 1998 Oct;28(5):427-37. doi: 10.1023/a:1026056522602. J Autism Dev Disord. 1998. PMID: 9813778 Review.

9

A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.

Fisher SE, Marlow AJ, Lamb J, Maestrini E, Williams DF, Richardson AJ, Weeks DE, Stein JF, Monaco AP. Fisher SE, et al. Among authors: monaco ap. Am J Hum Genet. 1999 Jan;64(1):146-56. doi: 10.1086/302190. Am J Hum Genet. 1999. PMID: 9915953 Free PMC article.

10

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. Maestrini E, et al. Among authors: monaco ap. Hum Mol Genet. 1999 Jul;8(7):1237-43. doi: 10.1093/hmg/8.7.1237. Hum Mol Genet. 1999. PMID: 10369869

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