| 1 | DEL22Q13
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| Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.
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| Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM.
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| J Neurodev Disord 8:16. doi: 10.1186/s11689-016-9150-0. eCollection 2016.
2016
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| 2 | DEL22Q13, SHANK3
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| Shank3 mutant mice display autistic-like behaviours and striatal dysfunction.
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| Peça J, Feliciano C, Ting JT, Wang W, Wells MF, Venkatraman TN, Lascola CD, Fu Z, Feng G.
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| Nature 472(7344):437-42. Epub 2011 Mar 20.
2011
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| 3 | AUTS20, DEL22Q13, HOMER1, SHANK3
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| Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism.
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| Bangash MA, Park JM, Melnikova T, Wang D, Jeon SK, Lee D, Syeda S, Kim J, Kouser M, Schwartz J, Cui Y, Zhao X, Speed HE, Kee SE, Tu JC, Hu JH, Petralia RS, Linden DJ, Powell CM, Savonenko A, Xiao B, Worley PF.
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| Cell 145(5):758-72. Epub 2011 May 12. 2011
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| 4 | DEL22Q13, SHANK3
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| Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.
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| Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.
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| PLoS Genet 7(7):e1002173. Epub 2011 Jul 14.
2011
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| 5 | DEL22Q13
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| Growth in Phelan-McDermid syndrome.
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| Rollins JD, Sarasua SM, Phelan K, Dupont BR, Rogers RC, Collins JS.
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| Am J Med Genet A 155(9):2324-6. doi: 10.1002/ajmg.a.34158. Epub 2011 Aug 10. No abstract available.
2011
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| 6 | DEL22Q13
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| Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
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| Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.
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| J Med Genet 48(11):761-6. Epub 2011 Oct 7. 2011
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| 7 | DEL22Q13, RG22
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| Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.
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| McGaughran J, Hadwen T, Clark R.
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| Clin Dysmorphol 19(1):28-9. No abstract available.
2010
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| 8 | DEL22Q13, SHANK3
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| 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH.
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| Dhar SU, Del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoio T.
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| Am J Med Genet A 152A(3):573-81.PMID: 20186804 2010
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| 9 | DEL22Q13
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| Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
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| Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R, Deloukas P, Dunham I, Zuffardi O.
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| Eur J Hum Genet 17(4):426-33. Epub 2008 Oct 15.
2009
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| 10 | DEL22Q13
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| Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
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| Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S.
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| Eur J Med Genet 52(5):328-32. Epub 2009 May 18.
2009
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| 11 | DEL22Q13
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| De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia.
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| Brunetti-Perri N, Patel A, Brown CW, Rauch RA, Heptulla RA.
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| Am J Med Genet A 149A(11):2554-6. No abstract available.
2009
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| 12 | DEL22Q13
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| Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome.
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| Tagaya M, Mizuno S, Hayakawa M, Yokotsuka T, Shimizu S, Fujimaki H.
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| Clin Dysmorphol 17(1):19-21. 2008
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| 13 | DEL22Q13
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| Deletion 22q13.3 syndrome.
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| Phelan MC.
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| Orphanet J Rare Dis 3:14. 2008
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| 14 | DEL22Q13, SHANK3
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| Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.
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| Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE.
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| Eur J Hum Genet 16(11):1301-10. Epub 2008 Jun 4.
2008
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| 15 | AUTS20, DEL22Q13, SHANK3
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| Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
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| Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Roge B, Heron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T.
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| Nat Genet 39(1):25-7. Epub 2006 Dec 17. 2007
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| 16 | DEL22Q13
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| Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
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| Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O.
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| J Med Genet 43(10):822-8. Epub 2005 Nov 11. 2006
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| 17 | DEL22Q13
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| Further delineation of the 22q13 deletion syndrome.
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| Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brondum-Nielsen K.
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| Clin Dysmorphol 14(2):55-60. 2005
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| 18 | DEL22Q13
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| Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.
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| Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G.
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| Clin Dysmorphol 14(3):127-132. 2005
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| 19 | DEL22Q13
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| Molecular and phenotypic characterization of ring chromosome 22.
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| Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J.
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| Am J Med Genet A 137(2):139-47. 2005
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| 20 | DEL22Q13
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| Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.
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| Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE.
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| Pediatrics 114(2):451-7. 2004
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| 21 | DEL22Q13
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| Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.
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| Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A.
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| Am J Med Genet A 130A(2):196-9.
2004
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| 22 | DEL22Q13, SHANK3
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| Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.
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| Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE.
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| J Med Genet 40(8):575-84. 2003
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| 23 | DEL22Q13
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| Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.
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| Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG.
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| J Med Genet 40(9):690-6. No abstract available. 2003
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| 24 | DEL22Q13
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| FISH-mapping of a 100-kb terminal 22q13 deletion.
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| Anderlid BM, Schoumans J, Anneren G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjold M.
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| Hum Genet 110(5):439-43. Epub 2002 Apr 04. 2002
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| 25 | DEL22Q13
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| 22q13 deletion syndrome.
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| Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP.
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| Am J Med Genet 101(2):91-9. 2001
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| 26 | DEL22Q13, SHANK3, APPL2
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| Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
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| Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A,Zuffardi O.
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| Am J Hum Genet 69(2):261-8. Epub 2001 Jun 18. 2001
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| 27 | DEL22Q13
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| Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
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| Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE.
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| Clin Genet 57(2):103-9. 2000
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| 28 | DEL22Q13
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| Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).
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| Fujita Y, Mochizuki D, Mori Y, Nakamoto N, Kobayashi M, Omi K, Kodama H, Yanagawa Y, Abe T, Tsuzuku T, Yamanouchi Y, Takano T.
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| Am J Med Genet 92(3):195-9. 2000
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| 29 | DEL22Q13
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| Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.
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| Schršder K, et al.
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| Hum Genet 102 : 557-561. 1998
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| 30 | D22S163, DEL22Q13
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| Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.
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| Wong ACC, et al.
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| Am J Hum Genet 60 : 113-120. 1997
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| 31 | DEL22Q13
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| Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
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| Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV.
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| J Med Genet 34(8):640-4. 1997
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| 32 | D22S163, DEL22Q13
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| The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
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| Flint J, et al.
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| Nat Genet 9 : 132-140. 1995
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| 33 | DEL22Q13
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| Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
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| Nesslinger NJ, et al.
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| Am J Hum Genet 54 : 464-472. 1994
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