9q34.3 deletion syndrome (English Wikipedia)

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T (2012). "Update on Kleefstra Syndrome". Mol Syndromol. 2 (3–5): 202–212. doi:10.1159/000335648. PMC 3366700. PMID 22670141.
Kleefstra, T (2005). "Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome". Journal of Medical Genetics. 42 (4): 299–306. doi:10.1136/jmg.2004.028464. ISSN 1468-6244. PMC 1736026. PMID 15805155.
Rump, A; Hildebrand, L; Tzschach, A; Ullmann, R; Schrock, E; Mitter, D (August 2013). "A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring". European Journal of Human Genetics. 21 (8): 887–90. doi:10.1038/ejhg.2012.267. PMC 3722677. PMID 23232695.
Bishop, R. (27 February 2010). "Applications of fluorescence in situ hybridization (FISH) in detecting genetic aberrations of medical significance". Bioscience Horizons. 3 (1): 85–95. doi:10.1093/biohorizons/hzq009.
Jeuken, Judith; Cornelissen, Sandra; Boots-Sprenger, Sandra; Gijsen, Sabine; Wesseling, Pieter (September 2006). "Multiplex Ligation-Dependent Probe Amplification". The Journal of Molecular Diagnostics. 8 (4): 433–443. doi:10.2353/jmoldx.2006.060012. PMC 1867615. PMID 16931583.
Kleefstra, Tjitske; Brunner, Han G.; Amiel, Jeanne; Oudakker, Astrid R.; Nillesen, Willy M.; Magee, Alex; Geneviève, David; Cormier-Daire, Valérie; van Esch, Hilde; Fryns, Jean-Pierre; Hamel, Ben C.J.; Sistermans, Erik A.; de Vries, Bert B.A.; van Bokhoven, Hans (August 2006). "Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome". The American Journal of Human Genetics. 79 (2): 370–377. doi:10.1086/505693. PMC 1559478. PMID 16826528.
Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; Lopez, A G.-M.; Casalone, R; Weber, A; Brueton, L A; Navarro, A D.; Bralo, M P.; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (4 March 2009). "Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics. 46 (9): 598–606. doi:10.1136/jmg.2008.062950. PMC 3395372. PMID 19372089.

kleefstrasyndrome.org

"What is Kleefstra syndrome?". Kleefstrasyndrome.org. Retrieved 3 February 2017.

medscape.org

Peng, H.H., & Van den Veyyer, I.B. "HOW DOES ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION WORK?", 2008

nih.gov

ncbi.nlm.nih.gov

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T (2012). "Update on Kleefstra Syndrome". Mol Syndromol. 2 (3–5): 202–212. doi:10.1159/000335648. PMC 3366700. PMID 22670141.
Kleefstra T, Nillesen WM, Yntema HG (7 May 2015). "Kleefstra Syndrome". Seattle:GeneReviews. GeneReviews. PMID 20945554. Retrieved 3 February 2017.
Kleefstra, T (2005). "Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome". Journal of Medical Genetics. 42 (4): 299–306. doi:10.1136/jmg.2004.028464. ISSN 1468-6244. PMC 1736026. PMID 15805155.
Rump, A; Hildebrand, L; Tzschach, A; Ullmann, R; Schrock, E; Mitter, D (August 2013). "A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring". European Journal of Human Genetics. 21 (8): 887–90. doi:10.1038/ejhg.2012.267. PMC 3722677. PMID 23232695.
Jeuken, Judith; Cornelissen, Sandra; Boots-Sprenger, Sandra; Gijsen, Sabine; Wesseling, Pieter (September 2006). "Multiplex Ligation-Dependent Probe Amplification". The Journal of Molecular Diagnostics. 8 (4): 433–443. doi:10.2353/jmoldx.2006.060012. PMC 1867615. PMID 16931583.
Kleefstra, Tjitske; Brunner, Han G.; Amiel, Jeanne; Oudakker, Astrid R.; Nillesen, Willy M.; Magee, Alex; Geneviève, David; Cormier-Daire, Valérie; van Esch, Hilde; Fryns, Jean-Pierre; Hamel, Ben C.J.; Sistermans, Erik A.; de Vries, Bert B.A.; van Bokhoven, Hans (August 2006). "Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome". The American Journal of Human Genetics. 79 (2): 370–377. doi:10.1086/505693. PMC 1559478. PMID 16826528.
Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; Lopez, A G.-M.; Casalone, R; Weber, A; Brueton, L A; Navarro, A D.; Bralo, M P.; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (4 March 2009). "Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics. 46 (9): 598–606. doi:10.1136/jmg.2008.062950. PMC 3395372. PMID 19372089.

pubmed.ncbi.nlm.nih.gov

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T (2012). "Update on Kleefstra Syndrome". Mol Syndromol. 2 (3–5): 202–212. doi:10.1159/000335648. PMC 3366700. PMID 22670141.
Kleefstra T, Nillesen WM, Yntema HG (7 May 2015). "Kleefstra Syndrome". Seattle:GeneReviews. GeneReviews. PMID 20945554. Retrieved 3 February 2017.
Kleefstra, T (2005). "Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome". Journal of Medical Genetics. 42 (4): 299–306. doi:10.1136/jmg.2004.028464. ISSN 1468-6244. PMC 1736026. PMID 15805155.
Rump, A; Hildebrand, L; Tzschach, A; Ullmann, R; Schrock, E; Mitter, D (August 2013). "A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring". European Journal of Human Genetics. 21 (8): 887–90. doi:10.1038/ejhg.2012.267. PMC 3722677. PMID 23232695.
Jeuken, Judith; Cornelissen, Sandra; Boots-Sprenger, Sandra; Gijsen, Sabine; Wesseling, Pieter (September 2006). "Multiplex Ligation-Dependent Probe Amplification". The Journal of Molecular Diagnostics. 8 (4): 433–443. doi:10.2353/jmoldx.2006.060012. PMC 1867615. PMID 16931583.
Kleefstra, Tjitske; Brunner, Han G.; Amiel, Jeanne; Oudakker, Astrid R.; Nillesen, Willy M.; Magee, Alex; Geneviève, David; Cormier-Daire, Valérie; van Esch, Hilde; Fryns, Jean-Pierre; Hamel, Ben C.J.; Sistermans, Erik A.; de Vries, Bert B.A.; van Bokhoven, Hans (August 2006). "Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome". The American Journal of Human Genetics. 79 (2): 370–377. doi:10.1086/505693. PMC 1559478. PMID 16826528.
Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; Lopez, A G.-M.; Casalone, R; Weber, A; Brueton, L A; Navarro, A D.; Bralo, M P.; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (4 March 2009). "Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics. 46 (9): 598–606. doi:10.1136/jmg.2008.062950. PMC 3395372. PMID 19372089.

rarechromo.org

Rare Chromosome Disorder Support Group, "Kleefstra Syndrome" Archived 2013-07-04 at the Wayback Machine, Kleefstra Syndrome, 2009

washington.edu

sop.washington.edu

N/A, "Principles of DNA Sequencing" Archived 2013-04-04 at the Wayback Machine, 2013

web.archive.org

Rare Chromosome Disorder Support Group, "Kleefstra Syndrome" Archived 2013-07-04 at the Wayback Machine, Kleefstra Syndrome, 2009
N/A, "Principles of DNA Sequencing" Archived 2013-04-04 at the Wayback Machine, 2013

worldcat.org

search.worldcat.org

Kleefstra, T (2005). "Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome". Journal of Medical Genetics. 42 (4): 299–306. doi:10.1136/jmg.2004.028464. ISSN 1468-6244. PMC 1736026. PMID 15805155.