Antonarakis SE - Search Results

1

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.

2

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

Blouin JL, Christie DH, Gos A, Lynn A, Morris MA, Ledbetter DH, Chakravarti A, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Am J Hum Genet. 1995 Aug;57(2):388-94. Am J Hum Genet. 1995. PMID: 7668265 Free PMC article.

3

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Am J Hum Genet. 1993 Nov;53(5):1074-8. Am J Hum Genet. 1993. PMID: 8213833 Free PMC article.

4

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

Chen H, Rossier C, Lalioti MD, Lynn A, Chakravarti A, Perrin G, Antonarakis SE. Chen H, et al. Among authors: antonarakis se. Am J Hum Genet. 1996 Jul;59(1):66-75. Am J Hum Genet. 1996. PMID: 8659545 Free PMC article.

5

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.

Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Am J Med Genet. 1996 Dec 11;66(2):209-15. doi: 10.1002/(SICI)1096-8628(19961211)66:2<209::AID-AJMG17>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8958333

6

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. Lalioti MD, et al. Among authors: antonarakis se. Am J Hum Genet. 1997 Feb;60(2):342-51. Am J Hum Genet. 1997. PMID: 9012407 Free PMC article.

7

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.

Radhakrishna U, Blouin JL, Mehenni H, Patel UC, Patel MN, Solanki JV, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Am J Hum Genet. 1997 Mar;60(3):597-604. Am J Hum Genet. 1997. PMID: 9042919 Free PMC article.

8

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.

Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Scott HS, et al. Among authors: antonarakis se. Hum Genet. 1997 May;99(5):616-23. doi: 10.1007/s004390050416. Hum Genet. 1997. PMID: 9150728

9

The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.

Radhakrishna U, Blouin JL, Mehenni H, Mehta TY, Sheth FJ, Sheth JJ, Solanki JV, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Am J Med Genet. 1997 Jul 11;71(1):80-6. doi: 10.1002/(sici)1096-8628(19970711)71:1<80::aid-ajmg15>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9215774

10

The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103.

Neerman-Arbez M, Antonarakis SE, Blouin JL, Zeinali S, Akhtari M, Afshar Y, Tuddenham EG. Neerman-Arbez M, et al. Among authors: antonarakis se. Am J Hum Genet. 1997 Jul;61(1):143-50. doi: 10.1086/513897. Am J Hum Genet. 1997. PMID: 9245995 Free PMC article.

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