163 related articles for article (PubMed ID: 18792974)
21. Jacobsen syndrome.
Mattina T; Perrotta CS; Grossfeld P
Orphanet J Rare Dis; 2009 Mar; 4():9. PubMed ID: 19267933
[TBL] [Abstract][Full Text] [Related]
22. Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
Chen CP; Lin SP; Hsu CH; Chern SR; Su JW; Chen YJ; Pan CW; Wang W
Genet Couns; 2012; 23(2):223-9. PubMed ID: 22876581
[TBL] [Abstract][Full Text] [Related]
23. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
Qi Z; Jeng LJ; Slavotinek A; Yu J
BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
[TBL] [Abstract][Full Text] [Related]
24. Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes.
Neavel CB; Soukup S
Am J Med Genet; 1994 Dec; 53(4):321-4. PubMed ID: 7864040
[TBL] [Abstract][Full Text] [Related]
25. Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size.
Fisch GS
Am J Med Genet A; 2015 Jan; 167A(1):45-53. PubMed ID: 25425441
[TBL] [Abstract][Full Text] [Related]
26. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Conrad S; Demurger F; Moradkhani K; Pichon O; Le Caignec C; Pascal C; Thomas C; Bayart S; Perlat A; Dubourg C; Jaillard S; Nizon M
Am J Med Genet A; 2019 Jun; 179(6):993-1000. PubMed ID: 30888095
[TBL] [Abstract][Full Text] [Related]
27. Chromosomal aberrations in congenital bone marrow failure disorders--an early indicator for leukemogenesis?
Göhring G; Karow A; Steinemann D; Wilkens L; Lichter P; Zeidler C; Niemeyer C; Welte K; Schlegelberger B
Ann Hematol; 2007 Oct; 86(10):733-9. PubMed ID: 17653548
[TBL] [Abstract][Full Text] [Related]
28. Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.
Linares Chávez EP; Toral López J; Valdés Miranda JM; González Huerta LM; Perez Cabrera A; Del Refugio Rivera Vega M; Messina Baas OM; Cuevas-Covarrubias SA
Mol Syndromol; 2016 Feb; 6(5):229-35. PubMed ID: 26997943
[TBL] [Abstract][Full Text] [Related]
29. Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.
Ye M; Hamzeh R; Geddis A; Varki N; Perryman MB; Grossfeld P
Am J Med Genet A; 2009 Jul; 149A(7):1438-43. PubMed ID: 19533782
[TBL] [Abstract][Full Text] [Related]
30. Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
So J; Stockley T; Stavropoulos DJ
Am J Med Genet A; 2014 Feb; 164A(2):511-5. PubMed ID: 24311471
[TBL] [Abstract][Full Text] [Related]
31. Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.
Carpinelli MR; Kruse EA; Arhatari BD; Debrincat MA; Ogier JM; Bories JC; Kile BT; Burt RA
Am J Pathol; 2015 Jul; 185(7):1867-76. PubMed ID: 26093983
[TBL] [Abstract][Full Text] [Related]
32. Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.
Stevenson WS; Rabbolini DJ; Beutler L; Chen Q; Gabrielli S; Mackay JP; Brighton TA; Ward CM; Morel-Kopp MC
Blood; 2015 Oct; 126(17):2027-30. PubMed ID: 26316623
[TBL] [Abstract][Full Text] [Related]
33. de novo interstitial deletions at the 11q23.3-q24.2 region.
Su J; Chen R; Luo J; Fan X; Fu C; Wang J; He S; Hu X; Zhang S; Yi S; Chen S; Shen Y
Mol Cytogenet; 2016; 9():39. PubMed ID: 27158264
[TBL] [Abstract][Full Text] [Related]
34. Partial deletion of the long arm of chromosome 11: ten Japanese children.
Ono J; Hasegawa T; Sugama S; Sagehashi N; Hase Y; Oku K; Endo Y; Ohdo S; Ishikiriyama S; Tsukamoto H; Okada S
Clin Genet; 1996 Dec; 50(6):474-8. PubMed ID: 9147876
[TBL] [Abstract][Full Text] [Related]
35. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.
Akshoomoff N; Mattson SN; Grossfeld PD
Genet Med; 2015 Feb; 17(2):143-8. PubMed ID: 25058499
[TBL] [Abstract][Full Text] [Related]
36. Clinical and molecular characterization of patients with distal 11q deletions.
Penny LA; Dell'Aquila M; Jones MC; Bergoffen J; Cunniff C; Fryns JP; Grace E; Graham JM; Kousseff B; Mattina T
Am J Hum Genet; 1995 Mar; 56(3):676-83. PubMed ID: 7887422
[TBL] [Abstract][Full Text] [Related]
37. 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.
Johnson JP; Haag M; Beischel L; McCann C; Phillips S; Tunby M; Hansen J; Schwanke C; Reynolds JF
Clin Genet; 2014 Apr; 85(4):376-80. PubMed ID: 23586500
[TBL] [Abstract][Full Text] [Related]
38. Prenatal diagnosis of mosaicism for 11q terminal deletion.
Valduga M; Cannard VL; Philippe C; Romana S; Miton A; Droulle P; Foliguet B; Lecompte T; Jonveaux P
Eur J Med Genet; 2007; 50(6):475-81. PubMed ID: 17761465
[TBL] [Abstract][Full Text] [Related]
39. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
[TBL] [Abstract][Full Text] [Related]
40. The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.
Dalm VA; Driessen GJ; Barendregt BH; van Hagen PM; van der Burg M
J Clin Immunol; 2015 Nov; 35(8):761-8. PubMed ID: 26566921
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]