Antonarakis SE - Search Results

1

Nomenclature for the description of human sequence variations.

den Dunnen JT, Antonarakis SE. den Dunnen JT, et al. Among authors: antonarakis se. Hum Genet. 2001 Jul;109(1):121-4. doi: 10.1007/s004390100505. Hum Genet. 2001. PMID: 11479744

2

Mutation nomenclature.

den Dunnen JT, Antonarakis SE. den Dunnen JT, et al. Among authors: antonarakis se. Curr Protoc Hum Genet. 2003 Aug;Chapter 7:Unit 7.13. doi: 10.1002/0471142905.hg0713s37. Curr Protoc Hum Genet. 2003. PMID: 18428344 Review.

3

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. den Dunnen JT, et al. Among authors: antonarakis se. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. Hum Mutat. 2016. PMID: 26931183

4

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

den Dunnen JT, Antonarakis SE. den Dunnen JT, et al. Among authors: antonarakis se. Hum Mutat. 2000;15(1):7-12. doi: 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10612815

5

Frequency of replication/transcription errors in (A)/(T) runs of human genes.

Paoloni-Giacobino A, Rossier C, Papasavvas MP, Antonarakis SE. Paoloni-Giacobino A, et al. Among authors: antonarakis se. Hum Genet. 2001 Jul;109(1):40-7. doi: 10.1007/s004390100541. Hum Genet. 2001. PMID: 11479734

6

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE. Lalioti MD, et al. Among authors: antonarakis se. Am J Hum Genet. 1998 Apr;62(4):842-7. doi: 10.1086/301798. Am J Hum Genet. 1998. PMID: 9529356 Free PMC article.

7

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.

8

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.

9

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

Antonarakis SE. Antonarakis SE. Hum Mutat. 1998;11(1):1-3. doi: 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O. Hum Mutat. 1998. PMID: 9450896 No abstract available.

10

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.

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