A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1

Krepischi-Santos, A.C.V.
Rajan, D.
Temple, I.K.
Shrubb, V.
Crolla, J.A.
Huang, S.
Beal, S.
Otto, P.A.
Carter, N.P.
Vianna-Morgante, A.M.
Rosenberg, C.

January 2009

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment ...

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

KREPISCHI-SANTOS, A. C. V.
RAJAN, D.
TEMPLE, I. K.
SHRUBB, V.
CROLLA, J. A.
HUANG, S.
BEAL, S.
OTTO, P. A.
CARTER, N. P.
VIANNA-MORGANTE, A. M.
ROSENBERG, C.

January 2009

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment ...

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

Osio, Deborah
Rankin, Julia
Koillinen, Hannele
Reynolds, Adele
Van Esch, Hilde

January 2018

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many n...

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Koolen, David A
Vissers, Lisenka E L M
Pfundt, Rolph
de Leeuw, Nicole
Knight, Samantha J L
Regan, Regina
Kooy, R Frank
Reyniers, Edwin
Romano, Corrado
Fichera, Marco
Schinzel, Albert
Baumer Wolz, Alessandra
Anderlid, Britt-Marie
Schoumans, Jacqueline
Knoers, Nine V
van Kessel, Ad Geurts
Sistermans, Erik A
Veltman, Joris A
Brunner, Han G
de Vries, Bert B A

August 2006

Submicroscopic genomic copy number changes have been identified only recently as an important cause ...

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen, DA
Vissers, LE
Pfundt, R
de Leeuw, N
Knight, SJ
Regan, R
Kooy, RF
Reyniers, E
Romano, C
Fichera, M
Schinzel, A
Baumer, A
Anderlid, BM
Schoumans, J
Knoers, NV
van Kessel, AG
Sistermans, EA
Veltman, JA
Brunner, HG
de Vries, BB

September 2006

Submicroscopic genomic copy number changes have been identified only recently as an important cause ...

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Dubourg, Christèle
Sanlaville, Damien
Doco-Fenzy, Martine
Le Caignec, Cédric
Missirian, Chantal
Jaillard, Sylvie
Schluth-Bolard, Caroline
Landais, Emilie
Boute, Odile
Philip, Nicole
Toutain, Annick
David, Albert
Edery, Patrick
Moncla, Anne
Martin-Coignard, Dominique
Vincent-Delorme, Catherine
Mortemousque, Isabelle
Duban-Bedu, Bénédicte
Drunat, Sèverine
Beri, Mylène
Mosser, Jean
Odent, Sylvie
David, Véronique
Andrieux, Joris

March 2011

International audienceChromosome 17q21.31 microdeletion was one of the first genomic disorders ident...

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen, D.A.
Sharp, A.J.
Hurst, J.A.
Firth, H.V.
Knight, S.J.
Goldenberg, A.
Saugier-Veber, P.
Pfundt, R.
Vissers, L.E.
Destrée, A.
Grisart, B.
Rooms, L.
van der Aa, N.
Field, M.
Hackett, A.
Bell, K.
Nowaczyk, M.J.
Mancini, G.M.
Poddighe, P.J.
Schwartz, C.E.
Rossi, E.
De, Gregori, M.
Antonacci-Fulton, L.L.
McLellan, M.D., II
Garrett, J.M.
Wiechert, M.A.
Miner, T.L.
Crosby, S.
Ciccone, R.
Willatt, L.
Rauch, A.
Zenker, M.
Aradhya, S.
Manning, MA.
Strom, T.M.
Wagenstaller, J.
Krepischi-Santos, A.C.
Vianna-Morgante, A.M.
Rosenberg, C.
Price, S.M.
Stewart, H.
Shaw-Smith, C.
Brunner, H.G.
Wilkie, A.O.
Veltman, J.A.
Zuffardi, O.
Eichler, E.E.
de, Vries, B.B.

January 2008

The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been ...

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Koolen, DA
Sharp, AJ
Hurst, JA
Firth, HV
Knight, SJL
Goldenberg, A
Saugier-Veber, P
Pfundt, R
Vissers, LELM
Destree, A
Grisart, B
Rooms, L
Van der Aa, N
Field, M
Hackett, A
Bell, K
Nowaczyk, MJM
Mancini, GMS
Poddighe, PJ
Schwartz, CE
Rossi, E
De Gregori, M
Antonacci-Fulton, LL
II, MMD
Garrett, JM
Wiechert, MA
Miner, TL
Crosby, S
Ciccone, R
Willatt, L
Rauch, A
Zenker, M
Aradhya, S
Manning, MA
Strom, TM
Wagenstaller, J
Krepischi-Santos, AC
Vianna-Morgante, AM
Rosenberg, C
Price, SM
Stewart, H
Shaw-Smith, C
Brunner, HG
Wilkie, AOM
Veltman, JA
Zuffardi, O
Eichler, EE
de Vries, BBA

November 2008

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has orig...

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Grisart, B
Willatt, L
Destrée, A
Fryns, Jean-Pierre
Rack, K
de Ravel, Thomy
Rosenfeld, J
Vermeesch, Joris
Verellen-Dumoulin, C
Sandford, R

August 2009

BACKGROUND: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we i...

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.

Osio, D.
Rankin, Julia
Koillinen, H.
Reynolds, A.
Van Esch, H.

November 2017

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many n...

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner

de Jong, Simone
Chepelev, Iouri
Janson, Esther
Strengman, Eric
van den Berg, Leonard H
Veldink, Jan H
Ophoff, Roel A

September 2012

Abstract Background Chromosome 17q21.31 contains a common inversion polymorphism of approximately 90...

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp, AJ
Hansen, S
Selzer, RR
Cheng, Z
Regan, R
Hurst, JA
Stewart, H
Price, SM
Blair, E
Hennekam, RC
Fitzpatrick, CA
Segraves, R
Richmond, TA
Guiver, C
Albertson, DG
Pinkel, D
Eis, PS
Schwartz, S
Knight, SJ
Eichler, EE

September 2006

Genomic disorders are characterized by the presence of flanking segmental duplications that predispo...

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1

Krepischi-Santos, A.C.V.
Rajan, D.
Temple, I.K.
Shrubb, V.
Crolla, J.A.
Huang, S.
Beal, S.
Otto, P.A.
Carter, N.P.
Vianna-Morgante, A.M.
Rosenberg, C.

January 2009

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment ...

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

KREPISCHI-SANTOS, A. C. V.
RAJAN, D.
TEMPLE, I. K.
SHRUBB, V.
CROLLA, J. A.
HUANG, S.
BEAL, S.
OTTO, P. A.
CARTER, N. P.
VIANNA-MORGANTE, A. M.
ROSENBERG, C.

January 2009

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment ...

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

Osio, Deborah
Rankin, Julia
Koillinen, Hannele
Reynolds, Adele
Van Esch, Hilde

January 2018

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many n...

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Koolen, David A
Vissers, Lisenka E L M
Pfundt, Rolph
de Leeuw, Nicole
Knight, Samantha J L
Regan, Regina
Kooy, R Frank
Reyniers, Edwin
Romano, Corrado
Fichera, Marco
Schinzel, Albert
Baumer Wolz, Alessandra
Anderlid, Britt-Marie
Schoumans, Jacqueline
Knoers, Nine V
van Kessel, Ad Geurts
Sistermans, Erik A
Veltman, Joris A
Brunner, Han G
de Vries, Bert B A

August 2006

Submicroscopic genomic copy number changes have been identified only recently as an important cause ...

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen, DA
Vissers, LE
Pfundt, R
de Leeuw, N
Knight, SJ
Regan, R
Kooy, RF
Reyniers, E
Romano, C
Fichera, M
Schinzel, A
Baumer, A
Anderlid, BM
Schoumans, J
Knoers, NV
van Kessel, AG
Sistermans, EA
Veltman, JA
Brunner, HG
de Vries, BB

September 2006

Submicroscopic genomic copy number changes have been identified only recently as an important cause ...

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Dubourg, Christèle
Sanlaville, Damien
Doco-Fenzy, Martine
Le Caignec, Cédric
Missirian, Chantal
Jaillard, Sylvie
Schluth-Bolard, Caroline
Landais, Emilie
Boute, Odile
Philip, Nicole
Toutain, Annick
David, Albert
Edery, Patrick
Moncla, Anne
Martin-Coignard, Dominique
Vincent-Delorme, Catherine
Mortemousque, Isabelle
Duban-Bedu, Bénédicte
Drunat, Sèverine
Beri, Mylène
Mosser, Jean
Odent, Sylvie
David, Véronique
Andrieux, Joris

March 2011

International audienceChromosome 17q21.31 microdeletion was one of the first genomic disorders ident...

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen, D.A.
Sharp, A.J.
Hurst, J.A.
Firth, H.V.
Knight, S.J.
Goldenberg, A.
Saugier-Veber, P.
Pfundt, R.
Vissers, L.E.
Destrée, A.
Grisart, B.
Rooms, L.
van der Aa, N.
Field, M.
Hackett, A.
Bell, K.
Nowaczyk, M.J.
Mancini, G.M.
Poddighe, P.J.
Schwartz, C.E.
Rossi, E.
De, Gregori, M.
Antonacci-Fulton, L.L.
McLellan, M.D., II
Garrett, J.M.
Wiechert, M.A.
Miner, T.L.
Crosby, S.
Ciccone, R.
Willatt, L.
Rauch, A.
Zenker, M.
Aradhya, S.
Manning, MA.
Strom, T.M.
Wagenstaller, J.
Krepischi-Santos, A.C.
Vianna-Morgante, A.M.
Rosenberg, C.
Price, S.M.
Stewart, H.
Shaw-Smith, C.
Brunner, H.G.
Wilkie, A.O.
Veltman, J.A.
Zuffardi, O.
Eichler, E.E.
de, Vries, B.B.

January 2008

The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been ...

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Koolen, DA
Sharp, AJ
Hurst, JA
Firth, HV
Knight, SJL
Goldenberg, A
Saugier-Veber, P
Pfundt, R
Vissers, LELM
Destree, A
Grisart, B
Rooms, L
Van der Aa, N
Field, M
Hackett, A
Bell, K
Nowaczyk, MJM
Mancini, GMS
Poddighe, PJ
Schwartz, CE
Rossi, E
De Gregori, M
Antonacci-Fulton, LL
II, MMD
Garrett, JM
Wiechert, MA
Miner, TL
Crosby, S
Ciccone, R
Willatt, L
Rauch, A
Zenker, M
Aradhya, S
Manning, MA
Strom, TM
Wagenstaller, J
Krepischi-Santos, AC
Vianna-Morgante, AM
Rosenberg, C
Price, SM
Stewart, H
Shaw-Smith, C
Brunner, HG
Wilkie, AOM
Veltman, JA
Zuffardi, O
Eichler, EE
de Vries, BBA

November 2008

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has orig...

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Grisart, B
Willatt, L
Destrée, A
Fryns, Jean-Pierre
Rack, K
de Ravel, Thomy
Rosenfeld, J
Vermeesch, Joris
Verellen-Dumoulin, C
Sandford, R

August 2009

BACKGROUND: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we i...

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.

Osio, D.
Rankin, Julia
Koillinen, H.
Reynolds, A.
Van Esch, H.

November 2017

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many n...

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner

de Jong, Simone
Chepelev, Iouri
Janson, Esther
Strengman, Eric
van den Berg, Leonard H
Veldink, Jan H
Ophoff, Roel A

September 2012

Abstract Background Chromosome 17q21.31 contains a common inversion polymorphism of approximately 90...

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp, AJ
Hansen, S
Selzer, RR
Cheng, Z
Regan, R
Hurst, JA
Stewart, H
Price, SM
Blair, E
Hennekam, RC
Fitzpatrick, CA
Segraves, R
Richmond, TA
Guiver, C
Albertson, DG
Pinkel, D
Eis, PS
Schwartz, S
Knight, SJ
Eichler, EE

September 2006

Genomic disorders are characterized by the presence of flanking segmental duplications that predispo...

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1

Krepischi-Santos, A.C.V.
Rajan, D.
Temple, I.K.
Shrubb, V.
Crolla, J.A.
Huang, S.
Beal, S.
Otto, P.A.
Carter, N.P.
Vianna-Morgante, A.M.
Rosenberg, C.

January 2009

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment ...

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

KREPISCHI-SANTOS, A. C. V.
RAJAN, D.
TEMPLE, I. K.
SHRUBB, V.
CROLLA, J. A.
HUANG, S.
BEAL, S.
OTTO, P. A.
CARTER, N. P.
VIANNA-MORGANTE, A. M.
ROSENBERG, C.

January 2009

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment ...

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

Osio, Deborah
Rankin, Julia
Koillinen, Hannele
Reynolds, Adele
Van Esch, Hilde

January 2018

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many n...

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Abstract

Extracted data

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Abstract

Extracted data

Related items

Related items