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American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 2, 2001, Pages 125-128

Rearrangements of chromosome 15 in epilepsy

(2) Schinzel, Albert a Niedrist, Dunja a

a UNIVERSITY OF ZURICH (Switzerland)

Author keywords

Angelman syndrome; Chromosome 15 rearrangements; Epilepsy; Gene dosage effect; Imprinting; Inv dup(15)

Indexed keywords

ARTICLE; CHROMOSOME 15; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ANGELMAN SYNDROME; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENES, DUPLICATE; GENOMIC IMPRINTING; HUMANS; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; POLYMORPHISM, GENETIC; PRADER-WILLI SYNDROME; SEIZURES;

EID: 0034794710 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1570 Document Type: Article

Times cited : (19)

References (22)

1
- 0030902026
- The invdup(15) syndrome: A clinically recognizable syndrome with altered behaviour, mental retardation and epilepsy
- (1997) Neurology , vol.48 , pp. 1081-1086
- Battaglia, A.¹ Gurrieri, F.² Bertini, E.³ Bellacosa, A.⁴ Pomponi, M.G.⁵ Paravatou-Petsotas, M.⁶ Mazza, S.⁷ Neri, G.⁸

2
- 0031444629
- Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
- (1997) Am J Hum Genet , vol.61 , pp. 1342-1352
- Browne, C.E.¹ Dennis, N.R.² Maher, E.³ Long, F.L.⁴ Nicholson, J.C.⁵ Sillibourne, J.⁶ Barber, J.C.K.⁷

3
- 0029011991
- Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
- (1995) Am J Hum Genet , vol.57 , pp. 40-48
- Christian, S.L.¹ Robinson, W.P.² Huang, B.³ Mutirangura, A.⁴ Line, M.R.⁵ Nakao, M.⁶ Surti, U.⁷ Chakravarti, A.⁸ Ledbetter, D.H.⁹

4
- 0032971379
- Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
- (1999) Hum Mol Genet , vol.8 , pp. 1025-1037
- Christian, S.L.¹ Fantes, J.A.² Mewborn, S.K.³ Huang, B.⁴ Ledbetter, D.⁵

5
- 16944364326
- Autism or atipical autism in maternally but not paternally derived proximal 15q duplication
- (1997) Am J Hum Genet , vol.60 , pp. 928-934
- Cook E.H., Jr.¹ Lindgren, V.² Leventhal, B.L.³ Courchesne, R.⁴ Lincoln, A.⁵ Shulman, C.⁶ Lord, C.⁷ Courchesne, E.⁸

6
- 0028821373
- Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
- (1995) Hum Genet , vol.95 , pp. 161-170
- Crolla, J.A.¹ Harvey, J.F.² Sitch, F.L.³ Dennis, N.R.⁴

7
- 10144234124
- Imprint swithing on human chromosome 15 may involve alternative transcripts of the SNRPN gene
- (1996) Nat Genet , vol.14 , pp. 163-170
- Dittrich, B.¹ Buiting, K.² Korn, B.³ Rickard, S.⁴ Buxton, J.⁵ Saitoh, S.⁶ Nicholls, R.D.⁷ Poutska, A.⁸ Winterpacht, A.⁹ Zabel, B.¹⁰ Horsthemke, B.¹¹

8
- 0022475535
- Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome
- (1986) Proc Natl Acad Sci USA , vol.83 , pp. 4408-4412
- Donlon, T.A.¹ Lalande, M.² Wyman, A.³ Bruns, G.⁴ Latt, S.A.⁵

9
- 0030925348
- Sensitivity to jerky gene dosage underlies epileptic seizures in mice
- (1997) J Neurosci , vol.17 , pp. 4562-4569
- Donovan, G.P.¹ Harden, C.² Gal, J.³ Ho, L.⁴ Sibille, E.⁵ Trifiletti, R.⁶ Gudas, L.J.⁷ Toth, M.⁸

10
- 0030070898
- Cytogenetic and molecular analysis of invdup(15) chromosomes observed in two patients with autistic disorder and mental retardation
- (1996) Am J Med Genet , vol.61 , pp. 182-187
- Flejter, W.L.¹ Bennet-Barker, P.E.² Ghazziuddin, M.³ McDonald, M.⁴ Sheldon, S.⁵ Gorski, J.L.⁶

11
- 0033549034
- Pervasive developmental disorder and epilepsy due to maternal duplication of the 15q11-q13 region
- (1999) Neurology , vol.52 , pp. 1694-1697
- Gurrieri, F.¹ Battaglia, A.² Torrisi, L.³ Tancredi, R.⁴ Cavallaro, C.⁵ Sangiorgi, E.⁶ Neri, G.⁷

12
- 0031060712
- Refined molecular characterization of the breakpoints in small invdup (15) chromosomes
- (1997) Hum Genet , vol.99 , pp. 11-17
- Huang, B.¹ Crolla, J.A.² Christian, S.L.³ Wolf-Ledbetter, M.E.⁴ Macha, M.E.⁵ Papenhausen, P.N.⁶ Ledbetter, D.H.⁷

13
- 0025292716
- Angelman syndrome: Three molecular classes identified with chromosome 15q11q13-specific DNA markers
- (1990) Am J Hum Genet , vol.47 , pp. 149-155
- Knoll, J.H.¹ Nicholls, R.D.² Magenis, R.E.³ Glatt, K.⁴ Graham J.M., Jr.⁵ Kaplan, L.⁶ Lalande, M.⁷

14
- 0026920425
- Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-q13) by YAC cloning and FISH analysis
- (1992) Hum Mol Genet , vol.1 , pp. 417-425
- Kuwano, A.¹ Mutirangura, A.² Dittrich, B.³ Buiting, K.⁴ Horsthemke, B.⁵ Saitoh, S.⁶ Niikawa, N.⁷ Ledbetter, S.A.⁸ Greenberg, F.⁹ Chinault, A.C.¹⁰ Ledbetter, D.H.¹¹

15
- 0028205957
- Molecular cytogenetic analysis of inv-dup(15) chromosomes, using probes specific for the Prader-Willi-Angelman syndrome region: Clinical implications
- (1994) AmJ Hum Genet , vol.54 , pp. 748-756
- Leana-Cox, J.¹ Jenkins, L.² Palmer, C.G.³ Plattner, R.⁴ Sheppard, L.⁵ Flejter, W.L.⁶ Zackowski, J.⁷ Tsien, F.⁸ Schwartz, S.⁹

16
- 0031920916
- Triplication of 15q11-q13 with invdup15 in a female with developmental delay
- (1998) J Med Genet , vol.35 , pp. 425-428
- Long, F.L.¹ Duckett, D.P.² Billam, L.J.³ Williams, D.K.⁴ Crolla, J.A.⁵

17
- 0029960187
- Clinical heterogeneity in 16 patients with inv-dup15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect
- (1996) Eur J Hum Genet , vol.4 , pp. 88-100
- Mignon, C.¹ Malzac, P.² Moncla, A.³ Depetris, D.⁴ Roeckel, N.⁵ Croquette, M.G.⁶

18
- 0033590679
- Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay
- (1999) Am J Med Genet , vol.82 , pp. 294-300
- Mohandas, T.K.¹ Park, J.P.² Spellman, R.A.³ Filiano, J.J.⁴ Mamourian, A.C.⁵ Hawk, A.B.⁶ Belloni, D.R.⁷ Noll, W.W.⁸ Moeschler, J.B.⁹

19
- 0028081050
- Intrachromosomal triplication of 15q11-q13
- (1994) J Med Genet , vol.31 , pp. 798-803
- Schinzel, A.A.¹ Brecevic, L.² Bernasconi, F.³ Binkert, F.⁴ Betthet, F.⁵ Wuilloud, A.⁶ Robinson, W.P.⁷

20
- 18344413881
- Autism and maternally derived aberrations of chromosome 15q
- (1998) Am J Med Genet , vol.76 , pp. 327-336
- Schroer, R.J.¹ Phelan, M.C.² Michaelis, R.C.³ Crawford, E.C.⁴ Skinner, S.A.⁵ Cuccaro, M.⁶ Simensen, R.J.⁷ Bishop, J.⁸ Skinner, C.⁹ Fender, D.¹⁰ Stevenson, R.E.¹¹

21
- 0032708221
- Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region
- (1999) Hum Genet , vol.105 , pp. 384-387
- Thomas, N.S.¹ Browne, C.E.² Oley, C.³ Healey, S.⁴ Crolla, J.A.⁵

22
- 0031946990
- Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
- (1998) Am J Hum Genet , vol.62 , pp. 925-936
- Wandstrat, A.E.¹ Leana Cox² Jenkins, L.³ Schwartz, S.⁴

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