| 1 | CNTN4, DEL3PD
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| Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder.
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| Gandawijaya J, Bamford RA, Burbach JPH, Oguro-Ando A.
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| Front Cell Neurosci Jan 13;14:611379. doi: 10.3389/fncel.2020.611379. eCollection 2020. 2021
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| 2 | CHL1, DEL3PD
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| Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.
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| Tassano E, Biancheri R, Denegri L, Porta S, Novara F, Zuffardi O, Gimelli G, Cuoco C.
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| Eur J Med Genet 57(11-12):626-9.
2014
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| 3 | DEL3P25, DEL3PD
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| Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
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| Kellogg G, Sum J, Wallerstein R.
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| Am J Med Genet A 161(6):1405-8. doi: 10.1002/ajmg.a.35876. Epub 2013 Apr 23.
2013
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| 4 | DEL3PD
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| Microdeletion on 3p25 in a patient with features of 3p deletion syndrome.
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| Peltekova IT, Macdonald A, Armour CM.
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| Am J Med Genet A 158A(10):2583-6. doi: 10.1002/ajmg.a.35559. Epub 2012 Aug 17.
2012
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| 5 | DEL3PD
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| Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
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| Riess A, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Horber V, Tzschach A.
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| Am J Med Genet A 158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10.
2012
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| 6 | CHL1, DEL3PD
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| Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
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| Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia MT, Lerone M, Mirabelli-Badenier M, Mascaretti M, Gimelli G.
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| Orphanet J Rare Dis 6:12.
2011
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| 7 | DEL3PD
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| Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.
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| Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H.
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| Am J Med Genet A 152A(2):441-6.PMID: 20101686 2010
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| 8 | DEL22Q11, DEL3PD
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| Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.
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| Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, Hafo F, Cine N, Savli H.
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| Am J Med Genet A 152A(11):2791-5.PMID: 20949503 2010
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| 9 | DEL3PD
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| Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
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| Gunnarsson C, Foyn Bruun C.
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| Am J Med Genet A 152A(12):3110-4.PMID: 21082655 2010
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| 10 | DEL3PD, SRGAP3
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| Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
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| Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER.
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| Am J Med Genet A 149A(10):2099-2105. [Epub ahead of print]
2009
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| 11 | DEL3PD
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| Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.
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| Hoo JJ, Shrimpton AE.
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| Am J Med Genet A 146(4):538. No abstract available. 2008
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| 12 | DEL9Q34, DUP19QD, DEL3PD, DEL6QD
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| Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.
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| Descipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H.
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| Am J Med Genet A 146A(6):730-739 [Epub ahead of print] 2008
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| 13 | DEL3PD
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| Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?
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| Barber JC.
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| Am J Med Genet A 146A(14):1899-901. No abstract available. 2008
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| 14 | CNTN4, DEL3PD
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| Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.
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| Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.
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| Am J Med Genet A 146A(21):2746-52.
2008
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| 15 | DEL3PD, DUP10PD
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| Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.
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| Nucaro AL, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi M, Achena F, Zuffardi O, Cianchetti C.
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| Am J Med Genet A 146A(24):3242-5. No abstract available.
2008
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| 16 | BPES, DEL10PP, DEL13QD, DEL17Q21, DEL18QP, DEL3PD, DUP10QD, DUP16P133, DUP6PD, FOXL2
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| Identification of copy number variants associated with BPES-like phenotypes.
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| Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA.
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| Hum Genet 124(5):489-98. Epub 2008 Oct 25. 2008
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| 17 | DEL3PD
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| Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.
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| Malmgren H, Sahlen S, Wide K, Lundvall M, Blennow E.
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| Am J Med Genet A 143(18):2143-9. 2007
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| 18 | ATP2B2, DEL3PD
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| 3p-- syndrome defines a hearing loss locus in 3p25.3.
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| McCullough BJ, Adams JC, Shilling DJ, Feeney MP, Sie KC, Tempel BL.
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| Hear Res 224(1-2):51-60. Epub 2007 Jan 8.
2007
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| 19 | CNTN4, CRBN , DEL3PD, DUP3PD
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| FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.
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| Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K.
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| Am J Med Genet A 140(22):2482-7. 2006
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| 20 | DEL3PD
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| Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect.
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| Takagishi J, Rauen KA, Drumheller T, Kousseff B, Sutcliffe M.
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| Am J Med Genet A 140(14):1587-93. 2006
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| 21 | DEL3PD
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| Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
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| Shrimpton AE, Jensen KA, Hoo JJ.
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| Am J Med Genet A 140(4):388-91. No abstract available. 2006
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| 22 | CRELD1, AVSD2, DEL3PD
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| Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).
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| Zatyka M, Priestley M, Ladusans EJ, Fryer AE, Mason J, Latif F, Maher ER.
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| Clin Genet 67(6):526-8. No abstract available. 2005
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| 23 | CDLS, DEL3PD
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| Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.
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| Descipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID.
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| Am J Med Genet A 137(3):276-82. 2005
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| 24 | CNTN4, DEL3PD
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| Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome.
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| Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW.
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| Am J Hum Genet 74(6):1286-93. Epub 2004 Apr 21. 2004
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| 25 | DUP3P, DUP3PD, DEL3PD, DUP1QD, DUP1QD
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| Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.
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| Kozma C, Slavotinek AM, Meck JM.
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| Am J Med Genet A 124(2):118-28. 2004
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| 26 | AVSD2, CRELD1, DEL3PD
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| Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
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| Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL.
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| Am J Hum Genet 72(4):1047-52. Epub 2003 Mar 11. 2003
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| 27 | DEL3PD
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| Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
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| Cargile CB, Goh DL, Goodman BK, Chen XN, Korenberg JR, Semenza GL, Thomas GH.
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| Am J Med Genet 109(2):133-8. 2002
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| 28 | ATP2B2, AVSD2, SEC13, DEL3PD
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| Detailed mapping of a congenital heart disease gene in chromosome 3p25.
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| Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER.
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| J Med Genet 37(8):581-7. 2000
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| 29 | DEL3PD
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| A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review.
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| Kariya S, Aoji K, Akagi H, Fukushima K, Chikumoto E, Ogawa T, Karaki M, Nishizaki K.
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| Int J Pediatr Otorhinolaryngol 56(1):71-8. Review. 2000
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| 30 | DEL3PD
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| GOMBO syndrome: another pseudorecessive disorder due to a cryptic translocation.
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| Verloes A, Lesenfants S, Jamar M, Dideberg V, Herens C.
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| Am J Med Genet 95(2):185-6. 2000
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| 31 | DEL3PD, DUP3P, HPE13
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| Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
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| Kennedy D, Silver MM, Winsor EJ, Toi A, Provias J, Macha M, Precht K, Ledbetter DH, Chitayat D.
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| Am J Med Genet 91(3):167-70. 2000
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| 32 | CAV3, DEL3PD
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| Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome.
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| Sotgia F, et al.
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| FEBS Lett 452(3):177-80. 1999
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| 33 | CHL1, DEL3PD
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| CALL gene is haploinsufficient in a 3p- syndrome patient.
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| Angeloni D, Lindor NM, Pack S, Latif F, Wei MH, Lerman MI.
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| Am J Med Genet 86(5):482-5 1999
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| 34 | DEL3PD, SIGMAR1
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| Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene
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| Prasad PD, Li HW, Fei YJ, Ganapathy ME, Fujita T, Plumley LH, Yang-Feng TL, Leibach FH, Ganapathy V.
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| J Neurochem 70(2):443-51. 1998
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| 35 | DEL3PD
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| Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
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| Drumheller T, McGillivray BC, Behrner D, MacLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI.
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| J Med Genet 33(10):842-7. 1996
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| 36 | DEL3PD
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| Del(3) (p25.3) without phenotypic effect.
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| Knight LA, Yong MH, Tan M, Ng IS.
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| J Med Genet 32(12):994-5. 1995
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| 37 | DEL3PD
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| Molecular genetic analysis of the 3p- syndrome.
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| Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A.
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| Hum Mol Genet 3(6):903-8. 1994
|