95 related articles for article (PubMed ID: 26625664)
1. MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.
Ottaviani V; Bartocci A; Pantaleo M; Giglio S; Cecconi M; Verrotti A; Merla G; Stangoni G; Prontera P
Genet Couns; 2015; 26(3):327-32. PubMed ID: 26625664
[TBL] [Abstract][Full Text] [Related]
2. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
[TBL] [Abstract][Full Text] [Related]
3. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
Lebedev IN; Nazarenko LP; Skryabin NA; Babushkina NP; Kashevarova AA
Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
[TBL] [Abstract][Full Text] [Related]
4. Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.
Vlaskamp DR; Rump P; Callenbach PM; Vos YJ; Sikkema-Raddatz B; van Ravenswaaij-Arts CM; Brouwer OF
Eur J Paediatr Neurol; 2016 May; 20(3):489-92. PubMed ID: 26818399
[TBL] [Abstract][Full Text] [Related]
5. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
[TBL] [Abstract][Full Text] [Related]
6. Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.
Yingjun X; Wen T; Yujian L; Lingling X; Huimin H; Qun F; Junhong C
Eur J Med Genet; 2015 Feb; 58(2):116-21. PubMed ID: 25450604
[TBL] [Abstract][Full Text] [Related]
7. Dissecting the genetic basis of myoclonic-astatic epilepsy.
Tang S; Pal DK
Epilepsia; 2012 Aug; 53(8):1303-13. PubMed ID: 22780699
[TBL] [Abstract][Full Text] [Related]
8. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
Ebach K; Joos H; Doose H; Stephani U; Kurlemann G; Fiedler B; Hahn A; Hauser E; Hundt K; Holthausen H; Müller U; Neubauer BA
Neuropediatrics; 2005 Jun; 36(3):210-3. PubMed ID: 15944908
[TBL] [Abstract][Full Text] [Related]
9. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Klitten LL; Møller RS; Nikanorova M; Silahtaroglu A; Hjalgrim H; Tommerup N
Epilepsia; 2011 Dec; 52(12):e190-3. PubMed ID: 22050443
[TBL] [Abstract][Full Text] [Related]
10. The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.
Piccione M; Vecchio D; Cavani S; Malacarne M; Pierluigi M; Corsello G
Am J Med Genet A; 2011 Dec; 155A(12):3054-9. PubMed ID: 22002912
[TBL] [Abstract][Full Text] [Related]
11. Array CGH analysis of a cohort of Russian patients with intellectual disability.
Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
[TBL] [Abstract][Full Text] [Related]
12. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C; Scheffer IE; Nabbout R; Mei D; Cox K; Dibbens LM; McMahon JM; Iona X; Carpintero RS; Elia M; Cilio MR; Specchio N; Giordano L; Striano P; Gennaro E; Cross JH; Kivity S; Neufeld MY; Afawi Z; Andermann E; Keene D; Dulac O; Zara F; Berkovic SF; Guerrini R; Mulley JC
Epilepsia; 2009 Jul; 50(7):1670-8. PubMed ID: 19400878
[TBL] [Abstract][Full Text] [Related]
13. Chromosomal Micro-aberration in a Saudi Family with Juvenile Myoclonic Epilepsy.
Naseer MI; Rasool M; Chaudhary AG; Sogaty S; Karim S; Schulten HJ; Bibi F; Pushparaj PN; Algahtani HA; Al-Qahtani MH
CNS Neurol Disord Drug Targets; 2017; 16(9):1010-1017. PubMed ID: 28758580
[TBL] [Abstract][Full Text] [Related]
14. Myoclonic epilepsy in a child with 17q22-q23.1 deletion.
Coppola A; Tostevin A; McTague A; Pressler RM; Cross JH; Sisodiya SM
Am J Med Genet A; 2013 Aug; 161A(8):2036-9. PubMed ID: 23794376
[TBL] [Abstract][Full Text] [Related]
15. 7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
Paduano F; Colao E; Loddo S; Orlando V; Trapasso F; Novelli A; Perrotti N; Iuliano R
Genes (Basel); 2020 May; 11(5):. PubMed ID: 32397165
[TBL] [Abstract][Full Text] [Related]
16. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
[TBL] [Abstract][Full Text] [Related]
17. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
Dimassi S; Labalme A; Lesca G; Rudolf G; Bruneau N; Hirsch E; Arzimanoglou A; Motte J; de Saint Martin A; Boutry-Kryza N; Cloarec R; Benitto A; Ameil A; Edery P; Ryvlin P; De Bellescize J; Szepetowski P; Sanlaville D
Epilepsia; 2014 Feb; 55(2):370-8. PubMed ID: 24372385
[TBL] [Abstract][Full Text] [Related]
18. A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21.
Chen LS; Xue D; Xi ZM; Liu DN; Zou PS; Ma M; Xia Y; Chen XH; Qiu GB; Cao DH
Gene; 2015 May; 563(1):72-5. PubMed ID: 25752286
[TBL] [Abstract][Full Text] [Related]
19. SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.
Magri C; Marchina E; Bertini V; Traversa M; Savio G; Pilotta A; Piovani G
BMC Med Genet; 2015 Jul; 16():47. PubMed ID: 26149167
[TBL] [Abstract][Full Text] [Related]
20. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.
Draaken M; Mughal SS; Pennimpede T; Wolter S; Wittler L; Ebert AK; Rösch W; Stein R; Bartels E; Schmidt D; Boemers TM; Schmiedeke E; Hoffmann P; Moebus S; Herrmann BG; Nöthen MM; Reutter H; Ludwig M
Birth Defects Res A Clin Mol Teratol; 2013 Mar; 97(3):133-9. PubMed ID: 23359465
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]