| 1 | DEL14Q12, DEL14QP, FOXG1
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| Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
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| Santen GW, Sun Y, Gijsbers AC, Carré A, Holvoet M, Haeringen Av, Lesnik Oberstein SA, Tomoda A, Mabe H, Polak M, Devriendt K, Ruivenkamp CA, Bijlsma EK.
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| J Med Genet 49(6):366-72. Epub 2012 May 25. 2012
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| 2 | DEL14Q12, DEL14QP
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| The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
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| Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.
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| Am J Med Genet A 155(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. 2011
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| 3 | DEL14QD, DEL14QP, FOXG1, RG14, RPGRIP1
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| The ring 14 syndrome: clinical and molecular definition.
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| Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G.
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| Am J Med Genet A 149A(6):1116-24. 2009
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| 4 | DEL14Q12, DEL14QP
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| 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
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| Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.
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| Eur J Med Genet 52(2-3):148-52. Epub 2009 Mar 19. 2009
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| 5 | DEL14QP, FOXG1, RTTL1
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| Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
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| Jacob FD, Ramaswamy V, Andersen J, Bolduc FV.
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| Eur J Hum Genet 17(12):1577-81. Epub 2009 Jul 22. Review.PMID: 19623215 2009
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| 6 | DEL14Q12, DEL14QP
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| A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
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| Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.
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| Am J Med Genet A 146A(15):1994-8. 2008
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| 7 | DEL14Q11, DEL14QP
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| Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
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| Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.
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| J Med Genet 44(9):556-561. Epub 2007 Jun 1. 2007
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| 8 | DEL14Q12, DEL14QP, DEL2Q33, FOXG1B
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| Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.
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| Bisgaard AM, Kirchhoff M, Tumer Z, Jepsen B, Brondum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F.
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| Am J Med Genet A 140(20):2180-7. 2006
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| 9 | DEL14QP, EAPP, HPE8, NPAS3, PPP2R3C, SNX6
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| Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
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| Kamnasaran D, Chen CP, Devriendt K, Mehta L, Cox DW.
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| Genomics 85(5):608-21. 2005
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| 10 | DEL14QP, FOXG1B
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| Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
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| Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM.
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| Hum Genet 117(6):536-44. Epub 2005 Aug 17.
2005
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| 11 | DEL14QP
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| Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)].
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| Zannolli R, Mostardini R, Pucci L, Sorrentino L, Biagioli M, Perotti R, Guarna M, Hadjistilianou T, Zerega G, Pierluigi M, Franco B, D'Ambrosio A, Morgese G.
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| Am J Med Genet 102(1):29-35. 2001
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| 12 | DEL14QP
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| Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.
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| Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW.
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| Am J Med Genet 102(2):173-82. 2001
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| 13 | DEL14QP, PAX9
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| De novo deletion (14)(q11.2q13) including PAX9 : clinical and molecular findings.
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| Schuffenhauer S, et al.
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| J Med Genet 36 : 233-236. 1999
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| 14 | DEL14QP
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| De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
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| Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG.
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| Am J Med Genet 52(1):44-50. 1994
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