199 related articles for article (PubMed ID: 19486360)
1. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
Veredice C; Bianco F; Contaldo I; Orteschi D; Stefanini MC; Battaglia D; Lettori D; Guzzetta F; Zollino M
Epilepsia; 2009 Jul; 50(7):1810-5. PubMed ID: 19486360
[TBL] [Abstract][Full Text] [Related]
2. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
Dhamija R; Breningstall G; Wong-Kisiel L; Dolan M; Hirsch B; Wirrell E
Pediatr Neurol; 2011 Jul; 45(1):60-2. PubMed ID: 21723464
[TBL] [Abstract][Full Text] [Related]
3. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
Shimojima K; Páez MT; Kurosawa K; Yamamoto T
Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
[TBL] [Abstract][Full Text] [Related]
4. A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy.
Unalp A; Uran N; Giray O; Ercal D
Pediatr Neurol; 2007 Aug; 37(2):140-3. PubMed ID: 17675032
[TBL] [Abstract][Full Text] [Related]
5. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.
Slavotinek AM; Moshrefi A; Davis R; Leeth E; Schaeffer GB; Burchard GE; Shaw GM; James B; Ptacek L; Pennacchio LA
Eur J Hum Genet; 2006 Sep; 14(9):999-1008. PubMed ID: 16736036
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.
Hatem E; Meriam BR; Walid D; Adenen M; Moez G; Ali S
Prenat Diagn; 2007 May; 27(5):471-4. PubMed ID: 17380471
[TBL] [Abstract][Full Text] [Related]
8. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.
Elia M; Striano P; Fichera M; Gaggero R; Castiglia L; Galesi O; Malacarne M; Pierluigi M; Amato C; Musumeci SA; Romano C; Majore S; Grammatico P; Zara F; Striano S; Faravelli F
Epilepsia; 2006 May; 47(5):830-8. PubMed ID: 16686647
[TBL] [Abstract][Full Text] [Related]
9. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
Casaccia G; Mobili L; Braguglia A; Santoro F; Bagolan P
Birth Defects Res A Clin Mol Teratol; 2006 Mar; 76(3):210-3. PubMed ID: 16498629
[TBL] [Abstract][Full Text] [Related]
10. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
Malan V; Raoul O; Firth HV; Royer G; Turleau C; Bernheim A; Willatt L; Munnich A; Vekemans M; Lyonnet S; Cormier-Daire V; Colleaux L
J Med Genet; 2009 Sep; 46(9):635-40. PubMed ID: 19126570
[TBL] [Abstract][Full Text] [Related]
11. Narrowing the deleted region associated with the 15q21 syndrome.
Pramparo T; Mattina T; Gimelli S; Liehr T; Zuffardi O
Eur J Med Genet; 2005; 48(3):346-52. PubMed ID: 16179230
[TBL] [Abstract][Full Text] [Related]
12. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
[TBL] [Abstract][Full Text] [Related]
13. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
Wakui K; Gregato G; Ballif BC; Glotzbach CD; Bailey KA; Kuo PL; Sue WC; Sheffield LJ; Irons M; Gomez EG; Hecht JT; Potocki L; Shaffer LG
Eur J Hum Genet; 2005 May; 13(5):528-40. PubMed ID: 15852040
[TBL] [Abstract][Full Text] [Related]
14. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.
Slavotinek A; Lee SS; Davis R; Shrit A; Leppig KA; Rhim J; Jasnosz K; Albertson D; Pinkel D
J Med Genet; 2005 Sep; 42(9):730-6. PubMed ID: 16141010
[TBL] [Abstract][Full Text] [Related]
15. Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
Klaassens M; van Dooren M; Eussen HJ; Douben H; den Dekker AT; Lee C; Donahoe PK; Galjaard RJ; Goemaere N; de Krijger RR; Wouters C; Wauters J; Oostra BA; Tibboel D; de Klein A
Am J Hum Genet; 2005 May; 76(5):877-82. PubMed ID: 15750894
[TBL] [Abstract][Full Text] [Related]
16. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG
Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
[TBL] [Abstract][Full Text] [Related]
17. An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.
Basel-Vanagaite L; Goldberg-Stern H; Mimouni-Bloch A; Shkalim V; Böhm D; Kohlhase J
J Child Neurol; 2011 Jan; 26(1):113-6. PubMed ID: 21212457
[TBL] [Abstract][Full Text] [Related]
18. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
[TBL] [Abstract][Full Text] [Related]
19. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
[TBL] [Abstract][Full Text] [Related]
20. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
Kato Z; Morimoto W; Kimura T; Matsushima A; Kondo N
Birth Defects Res A Clin Mol Teratol; 2010 Feb; 88(2):132-5. PubMed ID: 19813260
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
