PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Sara Seneca; Andre Van Steirteghem; Martine De Rycke; Anick De Vos; Veerle Goossens; Ingeborg Liebaers; Karen Sermon; Willy Lissens; Hilde Van De Velde; Anna Ferraretti; Luca Gianaroli; Cristini Magli; Peter Platteau; Joe Simpson; Yury Verlinsky

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Sara Seneca, Andre Van Steirteghem, Martine De Rycke, Anick De Vos, Veerle Goossens, Ingeborg Liebaers, Karen Sermon, Willy Lissens, Hilde Van De Velde, Anna Ferraretti (Editor), Luca Gianaroli (Editor), Cristini Magli (Editor), Peter Platteau, Joe Simpson (Editor), Yury Verlinsky (Editor)

Research output: Contribution to journal › Meeting abstract (Journal)

68 Citations (Scopus)

Abstract

Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.

Original language	English
Pages (from-to)	77-85
Number of pages	9
Journal	Mol Cell Endocrinol
Volume	183
Issue number	October
Publication status	Published - Oct 2001
Event	Unknown - Duration: 1 Oct 2001 → …

Bibliographical note

Mol Cell Endocrinol, 183 suppl 1, S77-85., 2001.

Keywords

dynamic mutations

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http://www.ncbi.nlm.nih.gov/sites/entrez

3rd International Conference on Preimplantation Geneticx
Hilde Van De Velde (Participant)
22 Jun 2001 → 23 Jun 2001
Activity: Participating in or organising an event › Participation in conference

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Seneca, S., Van Steirteghem, A., De Rycke, M., De Vos, A., Goossens, V., Liebaers, I., Sermon, K., Lissens, W., Van De Velde, H., Ferraretti, A. (Ed.), Gianaroli, L. (Ed.), Magli, C. (Ed.), Platteau, P., Simpson, J. (Ed.), & Verlinsky, Y. (Ed.) (2001). PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome. Mol Cell Endocrinol, 183(October), 77-85. http://www.ncbi.nlm.nih.gov/sites/entrez

Seneca, Sara ; Van Steirteghem, Andre ; De Rycke, Martine ; De Vos, Anick ; Goossens, Veerle ; Liebaers, Ingeborg ; Sermon, Karen ; Lissens, Willy ; Van De Velde, Hilde ; Ferraretti, Anna (Editor) ; Gianaroli, Luca (Editor) ; Magli, Cristini (Editor) ; Platteau, Peter ; Simpson, Joe (Editor) ; Verlinsky, Yury (Editor). / PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome. In: Mol Cell Endocrinol. 2001 ; Vol. 183, No. October. pp. 77-85.

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title = "PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.",

abstract = "Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.",

keywords = "dynamic mutations",

author = "Sara Seneca and {Van Steirteghem}, Andre and {De Rycke}, Martine and {De Vos}, Anick and Veerle Goossens and Ingeborg Liebaers and Karen Sermon and Willy Lissens and {Van De Velde}, Hilde and Anna Ferraretti and Luca Gianaroli and Cristini Magli and Peter Platteau and Joe Simpson and Yury Verlinsky",

note = "Mol Cell Endocrinol, 183 suppl 1, S77-85., 2001.; null ; Conference date: 01-10-2001",

year = "2001",

month = oct,

language = "English",

volume = "183",

pages = "77--85",

journal = "Molecular and Cellular Endocrinology",

issn = "0303-7207",

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Seneca, S , Van Steirteghem, A , De Rycke, M , De Vos, A, Goossens, V, Liebaers, I , Sermon, K, Lissens, W, Van De Velde, H, Ferraretti, A (ed.), Gianaroli, L (ed.), Magli, C (ed.), Platteau, P, Simpson, J (ed.) & Verlinsky, Y (ed.) 2001, 'PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.', Mol Cell Endocrinol, vol. 183, no. October, pp. 77-85. <http://www.ncbi.nlm.nih.gov/sites/entrez>

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome. / Seneca, Sara ; Van Steirteghem, Andre ; De Rycke, Martine ; De Vos, Anick; Goossens, Veerle; Liebaers, Ingeborg ; Sermon, Karen; Lissens, Willy; Van De Velde, Hilde; Ferraretti, Anna (Editor); Gianaroli, Luca (Editor); Magli, Cristini (Editor); Platteau, Peter; Simpson, Joe (Editor); Verlinsky, Yury (Editor).

In: Mol Cell Endocrinol, Vol. 183, No. October, 10.2001, p. 77-85.

Research output: Contribution to journal › Meeting abstract (Journal)

TY - JOUR

T1 - PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

AU - Seneca, Sara

AU - Van Steirteghem, Andre

AU - De Rycke, Martine

AU - De Vos, Anick

AU - Goossens, Veerle

AU - Liebaers, Ingeborg

AU - Sermon, Karen

AU - Lissens, Willy

AU - Van De Velde, Hilde

AU - Platteau, Peter

A2 - Ferraretti, Anna

A2 - Gianaroli, Luca

A2 - Magli, Cristini

A2 - Simpson, Joe

A2 - Verlinsky, Yury

N1 - Mol Cell Endocrinol, 183 suppl 1, S77-85., 2001.

PY - 2001/10

Y1 - 2001/10

N2 - Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.

AB - Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.

KW - dynamic mutations

M3 - Meeting abstract (Journal)

VL - 183

SP - 77

EP - 85

JO - Molecular and Cellular Endocrinology

JF - Molecular and Cellular Endocrinology

SN - 0303-7207

IS - October

Y2 - 1 October 2001

ER -

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Abstract

Bibliographical note

Keywords

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3rd International Conference on Preimplantation Geneticx

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