A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

Microdeletion and microduplication syndromes

Peart-Vissers, L.E.L.M.
Stankiewicz, P.

January 2012

Item does not contain fulltextDuring the past decade, widespread use of microarray-based technologie...

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard, Sylvie
Dubourg, Christèle
Gérard-Blanluet, Marion
Delahaye, Andrée
Pasquier, Laurent
Dupont, Céline
Henry, Catherine
Tabet, Anne-Claude
Lucas, Josette
Aboura, Azzedine
David, Véronique
Benzacken, Brigitte
Odent, Sylvie
Pipiras, Eva

December 2009

International audienceBACKGROUND: Genome-wide screening of patients with mental retardation using ar...

Periventricular heterotopia in common microdeletion syndromes.

Kogelenberg, M. van
Ghedia, S.
McGillivray, G.
Bruno, D.
Leventer, R.
Macdermot, K.
Nelson, J.
Nagarajan, L.
Veltman, J.A.
Brouwer, A.P.M. de
McKinlay Gardner, R.J.
Bokhoven, J.H.L.M. van
Kirk, E.P.
Robertson, S.P.

January 2010

Contains fulltext : 89801.pdf (publisher's version ) (Closed access)Periventricula...

CORRESPONDENCE

August 2016

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by...

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Florisson, Joyce MG
Mathijssen, Irene MJ
Dumee, Belinda
Hoogeboom, Jeannette AM
Poddighe, Pino J
Oostra, Ben A
Fryns, Jean-Pierre
Koster, Linda
de Klein, Annelies
Eussen, Bert
de Vries, Bert BA
Swagemakers, Sigrid
van der Spek, Peter J
Verkerk, Annemieke JMH

February 2013

In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identifi...

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.P.
Vissers, L.E.L.M.
Destree, A.
Grisart, B.
Rooms, L.
Aa, N. van der
Field, M.
Hackett, A.
Bell, K.
Nowaczyk, M.J.
Mancini, G.M.S.
Poddighe, P.J.
Schwartz, C.E.
Rossi, E.
Gregori, M. De
Antonacci-Fulton, L.L.
McLellan 2nd, M.D.
Garrett, J.M.
Wiechert, M.A.
Miner, T.L.
Crosby, S.
Ciccone, R.
Willatt, L.
Rauch, A.
Zenker, M.
Aradhya, S.
Manning, M.A.
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.
Vries, L.B.A. de

January 2008

Contains fulltext : 69531.pdf (publisher's version ) (Closed access)BACKGROUND: Th...

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

Koolen, D.A.
Vissers, L.E.L.M.
Nillesen, W.M.
Smeets, D.F.C.M.
Ravenswaaij-Arts, C.M.A. van
Sistermans, E.A.
Veltman, J.A.
Vries, B.D. de

January 2004

Contains fulltext : 57198.pdf (publisher's version ) (Closed access

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno, D.L.
Anderlid, B.M.
Lindstrand, A.
Ravenswaaij-Arts, C.M.A. van
Ganesamoorthy, D.
Lundin, J.
Martin, C.L.
Douglas, J.
Nowak, C.
Adam, M.P.
Kooy, R.F.
Aa, N. van der
Reyniers, E.
Vandeweyer, G.
Stolte-Dijkstra, I.
Dijkhuizen, T.
Yeung, A.
Delatycki, M.
Borgstrom, B.
Thelin, L.
Cardoso, C.
Bon, B.W.M. van
Pfundt, R.
Vries, L.B.A. de
Wallin, A.
Amor, D.J.
James, P.A.
Slater, H.R.
Schoumans, J.

January 2010

Contains fulltext : 88561.pdf (publisher's version ) (Closed access)BACKGROUND: Ch...

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. L.
Goldenberg, A.
Saugier--Veber, P.
Pfundt, R.
Vissers, L. E. L. M.
Destree, A.
Grisart, B.
Rooms, L.
Van der Aa, N.
Field, M.
Hackett, A.
Bell, K.
Nowaczyk, M. J. M.
Mancini, G. M. S.
Poddighe, P. J.
Schwartz, C. E.
Rossi, E.
De Gregori, M.
Antonacci-Fulton, L. L.
McLellan II, M. D.
Garrett, G. M.
Wiechert, M. A.
Miner, T. L.
Crosby, S.
Ciccione, R.
Willatt, L.
Rauch, A.
Zenker, M.
Aradhya, S.
Manning, M. A.
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. M.
Veltman, J. A.
Zuffardi, O.
Eichler, E. E.
de Vries, B. B. A.

January 2008

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

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Mefford, HC
Rosenfeld, JA
Shur, N
Slavotinek, AM
Cox, VA
Hennekam, RC
Firth, HV
Willatt, L
Wheeler, P
Morrow, EM
Cook, J
Sullivan, R
Oh, A
McDonald, MT
Zonana, J
Keller, K
Hannibal, MC
Ball, S
Kussmann, J
Gorski, J
Zelewski, S
Banks, V
Smith, W
Smith, R
Paull, L
Rosenbaum, KN
Amor, DJ
Silva, J
Lamb, A
Eichler, EE

February 2012

BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by inte...

Clinical and Molecular Characterization of 2p16.1-p15 Microduplications: A Genotype-Phenotype Analysis

Cooley, Camille Brooke

January 2021

Advances in genetic testing technology, specifically the development of chromosomal microarray analy...

A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant

October 2016

Recurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying ...

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

Bagheri, Hani
Badduke, Chansonette
Qiao, Ying
Colnaghi, Rita
Abramowicz, Iga
Alcantara, Diana
Dunham, Christopher
Wen, Jiadi
Wlldln, Robert S
Nowaczyk, Malgorzata J M
Elchmeyer, Jennifer
Lehman, Anna
Maranda, Bruno
Martell, Sally
Shan, Xianghong
Lewis, Suzanne M E
O'Driscoll, Mark
Gregory-Evans, Cheryl Y
Rajcan-Separovic, Evica

March 2016

The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, mic...

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

M. Piccione
E. Piro
F. Serraino
S. Cavani
M. Malacarne
M. Pierluigi
M. Vitaloni
G. Corsello
CICCONE, ROBERTO
ZUFFARDI, ORSETTA

January 2012

We report two individuals with developmental delay and dysmorphic features, in whom array-based comp...

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.

Schuurs-Hoeijmakers, J.H.M.
Vermeer, S.
Bon, B.W.M. van
Pfundt, R.P.
Marcelis, C.L.M.
Brouwer, A.P.M. de
Leeuw, N. de
Vries, L.B.A. de

January 2009

Contains fulltext : 81716.pdf (publisher's version ) (Closed access

Microdeletion and microduplication syndromes

Peart-Vissers, L.E.L.M.
Stankiewicz, P.

January 2012

Item does not contain fulltextDuring the past decade, widespread use of microarray-based technologie...

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard, Sylvie
Dubourg, Christèle
Gérard-Blanluet, Marion
Delahaye, Andrée
Pasquier, Laurent
Dupont, Céline
Henry, Catherine
Tabet, Anne-Claude
Lucas, Josette
Aboura, Azzedine
David, Véronique
Benzacken, Brigitte
Odent, Sylvie
Pipiras, Eva

December 2009

International audienceBACKGROUND: Genome-wide screening of patients with mental retardation using ar...

Periventricular heterotopia in common microdeletion syndromes.

Kogelenberg, M. van
Ghedia, S.
McGillivray, G.
Bruno, D.
Leventer, R.
Macdermot, K.
Nelson, J.
Nagarajan, L.
Veltman, J.A.
Brouwer, A.P.M. de
McKinlay Gardner, R.J.
Bokhoven, J.H.L.M. van
Kirk, E.P.
Robertson, S.P.

January 2010

Contains fulltext : 89801.pdf (publisher's version ) (Closed access)Periventricula...

CORRESPONDENCE

August 2016

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by...

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Florisson, Joyce MG
Mathijssen, Irene MJ
Dumee, Belinda
Hoogeboom, Jeannette AM
Poddighe, Pino J
Oostra, Ben A
Fryns, Jean-Pierre
Koster, Linda
de Klein, Annelies
Eussen, Bert
de Vries, Bert BA
Swagemakers, Sigrid
van der Spek, Peter J
Verkerk, Annemieke JMH

February 2013

In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identifi...

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.P.
Vissers, L.E.L.M.
Destree, A.
Grisart, B.
Rooms, L.
Aa, N. van der
Field, M.
Hackett, A.
Bell, K.
Nowaczyk, M.J.
Mancini, G.M.S.
Poddighe, P.J.
Schwartz, C.E.
Rossi, E.
Gregori, M. De
Antonacci-Fulton, L.L.
McLellan 2nd, M.D.
Garrett, J.M.
Wiechert, M.A.
Miner, T.L.
Crosby, S.
Ciccone, R.
Willatt, L.
Rauch, A.
Zenker, M.
Aradhya, S.
Manning, M.A.
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.
Vries, L.B.A. de

January 2008

Contains fulltext : 69531.pdf (publisher's version ) (Closed access)BACKGROUND: Th...

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

Koolen, D.A.
Vissers, L.E.L.M.
Nillesen, W.M.
Smeets, D.F.C.M.
Ravenswaaij-Arts, C.M.A. van
Sistermans, E.A.
Veltman, J.A.
Vries, B.D. de

January 2004

Contains fulltext : 57198.pdf (publisher's version ) (Closed access

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno, D.L.
Anderlid, B.M.
Lindstrand, A.
Ravenswaaij-Arts, C.M.A. van
Ganesamoorthy, D.
Lundin, J.
Martin, C.L.
Douglas, J.
Nowak, C.
Adam, M.P.
Kooy, R.F.
Aa, N. van der
Reyniers, E.
Vandeweyer, G.
Stolte-Dijkstra, I.
Dijkhuizen, T.
Yeung, A.
Delatycki, M.
Borgstrom, B.
Thelin, L.
Cardoso, C.
Bon, B.W.M. van
Pfundt, R.
Vries, L.B.A. de
Wallin, A.
Amor, D.J.
James, P.A.
Slater, H.R.
Schoumans, J.

January 2010

Contains fulltext : 88561.pdf (publisher's version ) (Closed access)BACKGROUND: Ch...

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. L.
Goldenberg, A.
Saugier--Veber, P.
Pfundt, R.
Vissers, L. E. L. M.
Destree, A.
Grisart, B.
Rooms, L.
Van der Aa, N.
Field, M.
Hackett, A.
Bell, K.
Nowaczyk, M. J. M.
Mancini, G. M. S.
Poddighe, P. J.
Schwartz, C. E.
Rossi, E.
De Gregori, M.
Antonacci-Fulton, L. L.
McLellan II, M. D.
Garrett, G. M.
Wiechert, M. A.
Miner, T. L.
Crosby, S.
Ciccione, R.
Willatt, L.
Rauch, A.
Zenker, M.
Aradhya, S.
Manning, M. A.
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. M.
Veltman, J. A.
Zuffardi, O.
Eichler, E. E.
de Vries, B. B. A.

January 2008

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

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Mefford, HC
Rosenfeld, JA
Shur, N
Slavotinek, AM
Cox, VA
Hennekam, RC
Firth, HV
Willatt, L
Wheeler, P
Morrow, EM
Cook, J
Sullivan, R
Oh, A
McDonald, MT
Zonana, J
Keller, K
Hannibal, MC
Ball, S
Kussmann, J
Gorski, J
Zelewski, S
Banks, V
Smith, W
Smith, R
Paull, L
Rosenbaum, KN
Amor, DJ
Silva, J
Lamb, A
Eichler, EE

February 2012

BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by inte...

Clinical and Molecular Characterization of 2p16.1-p15 Microduplications: A Genotype-Phenotype Analysis

Cooley, Camille Brooke

January 2021

Advances in genetic testing technology, specifically the development of chromosomal microarray analy...

A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant

October 2016

Recurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying ...

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

Bagheri, Hani
Badduke, Chansonette
Qiao, Ying
Colnaghi, Rita
Abramowicz, Iga
Alcantara, Diana
Dunham, Christopher
Wen, Jiadi
Wlldln, Robert S
Nowaczyk, Malgorzata J M
Elchmeyer, Jennifer
Lehman, Anna
Maranda, Bruno
Martell, Sally
Shan, Xianghong
Lewis, Suzanne M E
O'Driscoll, Mark
Gregory-Evans, Cheryl Y
Rajcan-Separovic, Evica

March 2016

The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, mic...

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

M. Piccione
E. Piro
F. Serraino
S. Cavani
M. Malacarne
M. Pierluigi
M. Vitaloni
G. Corsello
CICCONE, ROBERTO
ZUFFARDI, ORSETTA

January 2012

We report two individuals with developmental delay and dysmorphic features, in whom array-based comp...

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.

Schuurs-Hoeijmakers, J.H.M.
Vermeer, S.
Bon, B.W.M. van
Pfundt, R.P.
Marcelis, C.L.M.
Brouwer, A.P.M. de
Leeuw, N. de
Vries, L.B.A. de

January 2009

Contains fulltext : 81716.pdf (publisher's version ) (Closed access

Microdeletion and microduplication syndromes

Peart-Vissers, L.E.L.M.
Stankiewicz, P.

January 2012

Item does not contain fulltextDuring the past decade, widespread use of microarray-based technologie...

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard, Sylvie
Dubourg, Christèle
Gérard-Blanluet, Marion
Delahaye, Andrée
Pasquier, Laurent
Dupont, Céline
Henry, Catherine
Tabet, Anne-Claude
Lucas, Josette
Aboura, Azzedine
David, Véronique
Benzacken, Brigitte
Odent, Sylvie
Pipiras, Eva

December 2009

International audienceBACKGROUND: Genome-wide screening of patients with mental retardation using ar...

Periventricular heterotopia in common microdeletion syndromes.

Kogelenberg, M. van
Ghedia, S.
McGillivray, G.
Bruno, D.
Leventer, R.
Macdermot, K.
Nelson, J.
Nagarajan, L.
Veltman, J.A.
Brouwer, A.P.M. de
McKinlay Gardner, R.J.
Bokhoven, J.H.L.M. van
Kirk, E.P.
Robertson, S.P.

January 2010

Contains fulltext : 89801.pdf (publisher's version ) (Closed access)Periventricula...

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

Abstract

Extracted data

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

Abstract

Extracted data

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