Antonarakis SE - Search Results

1

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: antonarakis se. Hum Mutat. 2007 Aug;28(8):790-6. doi: 10.1002/humu.20517. Hum Mutat. 2007. PMID: 17397038

2

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.

3

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree.

Radhakrishna U, Senol S, Herken H, Gucuyener K, Gehrig C, Blouin JL, Akarsu NA, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Eur J Hum Genet. 2001 Jan;9(1):39-44. doi: 10.1038/sj.ejhg.5200584. Eur J Hum Genet. 2001. PMID: 11175298

4

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr. Antonarakis SE, et al. Am J Hum Genet. 1993 Jun;52(6):1145-52. Am J Hum Genet. 1993. PMID: 8503447 Free PMC article.

5

Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22.

Blouin JL, Duriaux Saïl G, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Ann Genet. 1996;39(3):185-8. Ann Genet. 1996. PMID: 8839893

6

Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.

Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Créau N, Delabar JM. Dahmane N, et al. Among authors: antonarakis se. Genomics. 1998 Feb 15;48(1):12-23. doi: 10.1006/geno.1997.5146. Genomics. 1998. PMID: 9503011

7

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, Richards KF, Bermejo-Fenoll A, Leal AS, Raval RC, Antonarakis SE. Mehenni H, et al. Among authors: antonarakis se. Am J Hum Genet. 1997 Dec;61(6):1327-34. doi: 10.1086/301644. Am J Hum Genet. 1997. PMID: 9399902 Free PMC article.

8

Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1.

Blouin JL, Duriaux Saïl G, Guipponi M, Rossier C, Pappasavas MP, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Hum Genet. 1998 Mar;102(3):282-8. doi: 10.1007/s004390050692. Hum Genet. 1998. PMID: 9544839

9

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.

10

Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically.

Blouin JL, Binkert F, Antonarakis SE. Blouin JL, et al. Among authors: antonarakis se. Am J Med Genet. 1994 Feb 1;49(3):363-8. doi: 10.1002/ajmg.1320490333. Am J Med Genet. 1994. PMID: 8209906

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