163 related articles for article (PubMed ID: 18792974)
1. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
Bernaciak J; Szczałuba K; Derwińska K; Wiśniowiecka-Kowalnik B; Bocian E; Sasiadek MM; Makowska I; Stankiewicz P; Smigiel R
Am J Med Genet A; 2008 Oct; 146A(19):2449-54. PubMed ID: 18792974
[TBL] [Abstract][Full Text] [Related]
2. SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
Trkova M; Becvarova V; Hynek M; Hnykova L; Hlavova E; Kreckova G; Kulovany E; Cutka D; Zatloukalova J; Markova K; Sukova M; Horacek J; Stejskal D
Am J Med Genet A; 2012 Oct; 158A(10):2545-50. PubMed ID: 22887642
[TBL] [Abstract][Full Text] [Related]
3. Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.
Jamsheer A; Smyk M; Wierzba J; Kołowska J; Woźniak A; Skołozdrzy J; Fischer M; Latos-Bieleńska A
J Appl Genet; 2008; 49(4):397-405. PubMed ID: 19029687
[TBL] [Abstract][Full Text] [Related]
4. Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).
Basinko A; Audebert-Bellanger S; Douet-Guilbert N; Le Franc J; Parent P; Quemener S; La Selve P; Bovo C; Morel F; Le Bris MJ; De Braekeleer M
Am J Med Genet A; 2011 Sep; 155A(9):2281-7. PubMed ID: 21834034
[TBL] [Abstract][Full Text] [Related]
5. Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.
Galvão Gomes A; Paiva Grangeiro CH; Silva LR; Oliveira-Gennaro FG; Pereira CS; Joaquim TM; Panepucci RA; Squire JA; Martelli L
Mol Syndromol; 2017 Jan; 8(1):45-49. PubMed ID: 28232783
[TBL] [Abstract][Full Text] [Related]
6. Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.
Sheth FJ; Datar C; Andrieux J; Pandit A; Nayak D; Rahman M; Sheth JJ
Clin Med Insights Pediatr; 2014; 8():45-9. PubMed ID: 25288895
[TBL] [Abstract][Full Text] [Related]
7. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
Ji T; Wu Y; Wang H; Wang J; Jiang Y
J Hum Genet; 2010 Aug; 55(8):486-9. PubMed ID: 20520618
[TBL] [Abstract][Full Text] [Related]
8. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.
Takahashi I; Takahashi T; Sawada K; Shimojima K; Yamamoto T
Am J Med Genet A; 2012 Jan; 158A(1):220-3. PubMed ID: 22139980
[TBL] [Abstract][Full Text] [Related]
9. Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
Serra G; Memo L; Antona V; Corsello G; Favero V; Lago P; Giuffrè M
Ital J Pediatr; 2021 Jul; 47(1):147. PubMed ID: 34210338
[TBL] [Abstract][Full Text] [Related]
10. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Tyson C; Qiao Y; Harvard C; Liu X; Bernier FP; McGillivray B; Farrell SA; Arbour L; Chudley AE; Clarke L; Gibson W; Dyack S; McLeod R; Costa T; Vanallen MI; Yong SL; Graham GE; Macleod P; Patel MS; Hurlburt J; Holden JJ; Lewis SM; Rajcan-Separovic E
Mol Cytogenet; 2008 Nov; 1():23. PubMed ID: 19000322
[TBL] [Abstract][Full Text] [Related]
11. Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.
Chen CP; Wang LK; Wu PC; Chang TY; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2017 Feb; 56(1):102-105. PubMed ID: 28254208
[TBL] [Abstract][Full Text] [Related]
12. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.
Afifi HH; Zaki MS; El-Gerzawy AM; Kayed HF
Genet Couns; 2008; 19(1):47-58. PubMed ID: 18564501
[TBL] [Abstract][Full Text] [Related]
13. Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.
Putoux A; Labalme A; André JM; Till M; Schluth-Bolard C; Berard J; Bertrand Y; Edery P; Putet G; Sanlaville D
Am J Med Genet A; 2013 Feb; 161A(2):331-7. PubMed ID: 23322614
[TBL] [Abstract][Full Text] [Related]
14. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
Wenger SL; Grossfeld PD; Siu BL; Coad JE; Keller FG; Hummel M
Am J Med Genet A; 2006 Apr; 140(7):704-8. PubMed ID: 16502431
[TBL] [Abstract][Full Text] [Related]
15. Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).
Manolakos E; Orru S; Neroutsou R; Kefalas K; Louizou E; Papoulidis I; Thomaidis L; Peitsidis P; Sotiriou S; Kitsos G; Tsoplou P; Petersen MB; Metaxotou A
Mol Cytogenet; 2009 Dec; 2():26. PubMed ID: 20003197
[TBL] [Abstract][Full Text] [Related]
16. Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.
Van Zutven LJ; van Bever Y; Van Nieuwland CC; Huijbregts GC; Van Opstal D; von Bergh AR; Corel LJ; Tibboel D; Wouters CH; Poddighe PJ
Am J Med Genet A; 2009 Jul; 149A(7):1468-75. PubMed ID: 19449434
[TBL] [Abstract][Full Text] [Related]
17. Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.
Böhm D; Hoffmann K; Laccone F; Wilken B; Dechent P; Frahm J; Bartels I; Bohlander SK
Am J Med Genet A; 2006 Feb; 140(4):378-82. PubMed ID: 16419136
[TBL] [Abstract][Full Text] [Related]
18. Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.
Nalbantoğlu B; Donma MM; Nişli K; Paketçi C; Karasu E; Ozdilek B; Mintaş NE
Turk J Pediatr; 2013; 55(2):203-6. PubMed ID: 24192682
[TBL] [Abstract][Full Text] [Related]
19. Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.
Rodríguez-López R; Gimeno-Ferrer F; Montesinos E; Ferrer-Bolufer I; Luján CG; Albuquerque D; Cataluña CM; Ballesteros V; Pérez-Gramunt MA
Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440371
[TBL] [Abstract][Full Text] [Related]
20. Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
Guerin A; Stavropoulos DJ; Diab Y; Chénier S; Christensen H; Kahr WH; Babul-Hirji R; Chitayat D
Am J Med Genet A; 2012 Oct; 158A(10):2551-6. PubMed ID: 22965935
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
