| 1 | MDS
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| Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.
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| Noor A, Bogatan S, Watkins N, Meschino WS, Stavropoulos DJ.
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| Clin Genet 93(2):365-367. doi: 10.1111/cge.13056. Epub 2017 Aug 31.
2018
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| 2 | DEL17P13, DEL17P13D, DUP17P13, MDS, PAFAH1B1, YWHAE
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| Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
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| Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.
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| J Med Genet 47(5):299-311.PMID: 20452996 2010
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| 3 | MDS, YWHAE
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| Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.
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| Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.
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| J Med Genet 47(2):132-6. Epub 2009 Jul 26.PMID: 19635726 2010
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| 4 | DEL17P13D, MDS, PAFAH1B1, YWHAE
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| Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
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| Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.
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| Eur J Med Genet 53(5):303-8. Epub 2010 Jul 3.PMID: 20599530 2010
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| 5 | DUP17P13, LIS1, MDS, PAFAH1B1
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| Increased LIS1 expression affects human and mouse brain development.
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| Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O.
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| Nat Genet 41(2):168-77. Epub 2009 Jan 11. 2009
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| 6 | DUP17P13, MDS, PAFAH1B1
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| A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
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| Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.
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| J Med Genet 46:703-710 2009
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| 7 | DEL17QO, MDS
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| Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.
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| Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.
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| Clin Genet 76(3):256-62. 2009
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| 8 | DEL17P13D, MDS, YWHAE
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| Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
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| Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.
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| J Med Genet 46(12):825-33. Epub 2009 Jul 6. 2009
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| 9 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 10 | ATR, BPES, MDS, RCF2, RPA1, SCKL1, WBS
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| Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling.
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| O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA.
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| Am J Hum Genet 81(1):77-86. Epub 2007 May 17. 2007
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| 11 | MDS, NDEL1, PAFAH1B1, YWHAE
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| Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.
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| Wynshaw-Boris A.
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| Clin Genet 72(4):296-304. 2007
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| 12 | MDS, PAFAH1B1
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| Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
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| Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K.
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| Pediatr Neurol 36(4):258-60.
2007
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| 13 | MDS, PAFAH1B1
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| Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence.
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| Elias RC, Galera MF, Schnabel B, Briones MR, Borri ML, Lipay M, Carvalheira G, Brunoni D, Melaragno MI.
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| Pediatr Neurol 35(1):42-6. 2006
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| 14 | MDS
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| Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging.
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| Fong KW, Ghai S, Toi A, Blaser S, Winsor EJ, Chitayat D.
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| Ultrasound Obstet Gynecol 24(7):716-23. 2004
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| 15 | MDS
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| Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat.
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| Thomas MA, Duncan AM, Bardin C, Kaloustian VM.
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| Am J Med Genet A 124(3):292-5. 2004
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| 16 | CRK, LIS1, YWHAE, MDS, PAFAH1B1
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| Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
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| Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH.
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| Am J Hum Genet 72(4):918-30. Epub 2003 Mar 05. 2003
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| 17 | DEL17QO, MDS
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| Ring chromosome 17: phenotype variation by deletion size.
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| Shashi V, White JR, Pettenati MJ, Root SK, Bell WL.
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| Clin Genet 64(4):361-5. 2003
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| 18 | MDS
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| Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.
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| Yingling J, Toyo-Oka K, Wynshaw-Boris A.
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| Am J Hum Genet 73(3):475-88. Epub 2003 Aug 05. Review. No abstract available. 2003
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| 19 | MDS, ARX, DCX, PAFAH1B1, RELN, YWHAE
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| Lissencephaly and the molecular basis of neuronal migration.
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| Kato M, Dobyns WB.
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| Hum Mol Genet 12 Spec No 1:R89-96. Review. 2003
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| 20 | MDS
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| An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome.
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| Joyce CA, Dennis NR, Howard F, Davis LM, Thomas NS.
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| Eur J Hum Genet 10(11):707-14. 2002
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| 21 | LIS1, PAFAH1B1, MDS
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| The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
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| Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.
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| Hum Mol Genet 9(20):3019-28. 2000
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| 22 | MDS
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| Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the miller-dieker syndrome (MDS) critical region in chromosome 17p13.3.
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| Pollin TI, et al.
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| Am J Med Genet 85(4):369-75. 1999
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| 23 | LIS1, MDS, PLA2G7
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| Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence of Miller-Dieker syndrome.
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| Sakamoto M, et al.
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| Hum Genet 103 : 586-589. 1998
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| 24 | LIS1, MDS, PLA2G7
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| Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
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| Lo Nigro C, et al.
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| Hum Mol Genet 6 : 157-164. 1997
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| 25 | LIS1, MDS, PLA2G7, YWHAE
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| A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
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| Chong SS, et al.
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| Hum Mol Genet 6 : 147-155. 1997
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| 26 | LIS1, MDS
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| Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
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| Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A.
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| Genome Res 7(6):625-34. 1997
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| 27 | MDS
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| Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome.
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| Yokoyama Y, Narahara K, Teraoka M, Koyama K, Seino Y, Yagi S, Konishi T, Miyawaki T.
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| Am J Med Genet 71(2):236-7. 1997
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| 28 | LIS1, MDS, YWHAE
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| 14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region.
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| Chong SS, et al.
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| Genome Res 6 : 735-741. 1996
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| 29 | MDS, LIS1
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| Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.
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| Pilz DT, et al.
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| J Med Genet 32 : 275-278. 1995
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| 30 | MDS
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| Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.
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| Khler A, et al.
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| Clin Genet 47 : 161-164. 1995
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| 31 | LIS1, MDS, PLA2G7
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| Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase.
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| Hattori M, et al.
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| Nature 370 : 216-218. 1994
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| 32 | LIS1, MDS
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| Cloning and characterization of a full-length cDNA mapping to the critical region for lissencephaly.
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| Carrozzo R, et al.
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| Am J Hum Genet 51 : A210. 1992
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| 33 | LIS1, MDS
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| DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
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| Oostra BA, et al.
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| Am J Med Genet 40 : 383-386. 1991
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| 34 | MDS
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| Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
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| Kuwano A, et al.
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| Am J Hum Genet 49 : 707-714. 1991
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| 35 | MDS
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| Clinical and molecular diagnosis of Miller-Dieker syndrome.
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| Dobyns WB, et al.
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| Am J Hum Genet 48 : 584-594. 1991
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| 36 | D17S5, D17S28, MDS
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| Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.
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| Ledbetter SA, et al.
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| Genomics 7 : 264-269. 1990
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| 37 | MDS
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| Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
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| Batanian JR, et al.
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| Hum Genet 85 : 555-559. 1990
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| 38 | MDS, PFN1
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| Identification of the functional profilin gene, its localization to chromosome subband 17p13.3 and demonstration of its deletion in some patients with Miller-Dieker syndrome.
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| Kwiatkowski DJ, et al.
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| Am J Hum Genet 46 : 559-567. 1990
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| 39 | MDS
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| Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144d6) in 17p13.3.
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| Schwartz CE, et al.
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| Genomics 7 : 621-624. 1990
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| 40 | MDS
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| Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region.
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| Ledbetter DH, et al.
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| Proc Natl Acad Sci U S A 86 : 5136-5140. 1989
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| 41 | SLOS, MDS
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| Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).
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| Berry R, et al.
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| Am J Med Genet 34 : 358-365. 1989
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| 42 | D17S28, MDS
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| Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
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| vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH.
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| Am J Hum Genet 43 : 587-596. 1988
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| 43 | MDS
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| Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.
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| Schwartz CE, Johnson JP, Holycross B, Mandeville TM, Sears TS, Graul EA, Carey JC, Schroer RJ, Phelan MC, Szollar J, et al.
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| Am J Hum Genet 43 : 597-604. 1988
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| 44 | MDS
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| Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17 : localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13.
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| vanTuinen P, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 708. 1987
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| 45 | MDS
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| Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
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| Greenberg F, et al.
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| Am J Med Genet 23 : 853-859. 1986
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| 46 | MDS
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| New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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| Stratton RF, et al.
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| Hum Genet 67 : 193-200. 1984
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| 47 | MDS
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| Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
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| Dobyns WB, et al.
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| Am J Med Genet 18 : 509-526. 1984
|