Monaco AP - Search Results

1

Autism: recent molecular genetic advances.

Lamb JA, Moore J, Bailey A, Monaco AP. Lamb JA, et al. Among authors: monaco ap. Hum Mol Genet. 2000 Apr 12;9(6):861-8. doi: 10.1093/hmg/9.6.861. Hum Mol Genet. 2000. PMID: 10767308 Review.

2

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination.

Den Dunnen JT, Grootscholten PM, Dauwerse JG, Walker AP, Monaco AP, Butler R, Anand R, Coffey AJ, Bentley DR, Steensma HY, et al. Den Dunnen JT, et al. Among authors: monaco ap. Hum Mol Genet. 1992 Apr;1(1):19-28. doi: 10.1093/hmg/1.1.19. Hum Mol Genet. 1992. PMID: 1301131

3

Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.

Ho MF, Monaco AP, Blonden LA, van Ommen GJ, Affara NA, Ferguson-Smith MA, Lehrach H. Ho MF, et al. Among authors: monaco ap. Am J Hum Genet. 1992 Feb;50(2):317-30. Am J Hum Genet. 1992. PMID: 1734714 Free PMC article.

4

Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

Bolton P, Powell J, Rutter M, Buckle V, Yates JR, Ishikawa-Brush Y, Monaco AP. Bolton P, et al. Among authors: monaco ap. Psychiatr Genet. 1995 Summer;5(2):51-5. doi: 10.1097/00041444-199522000-00001. Psychiatr Genet. 1995. PMID: 7551962

5

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al. Huber I, et al. Among authors: monaco ap. Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151. Hum Mol Genet. 1994. PMID: 7981685

6

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

7

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

8

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP. Philippe C, et al. Among authors: monaco ap. Am J Hum Genet. 1997 Sep;61(3):520-8. doi: 10.1086/515505. Am J Hum Genet. 1997. PMID: 9326317 Free PMC article.

9

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.

10

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.

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