131 related articles for article (PubMed ID: 29556653)
41. Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.
Puvabanditsin S; Chen CW; Botwinick M; Hussein K; Mariduena J; Mehta R
Clin Case Rep; 2018 Jul; 6(7):1268-1275. PubMed ID: 29988670
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.
Noris P; Valli R; Pecci A; Marletta C; Invernizzi R; Mare L; Balduini CL; Maserati E
Eur J Haematol; 2012 Oct; 89(4):345-9. PubMed ID: 22775407
[TBL] [Abstract][Full Text] [Related]
44. 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]
45. Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report.
Dalen ML; Vigerust NF; Hammarström C; Holmstrøm H; Andresen JH
J Med Case Rep; 2022 Mar; 16(1):117. PubMed ID: 35321730
[TBL] [Abstract][Full Text] [Related]
46. A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex.
Malia LA; Wolkoff LI; Mnayer L; Tucker JW; Parikh NS
J Pediatr Hematol Oncol; 2015 Oct; 37(7):e429-32. PubMed ID: 26056793
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. Case report:
Trachsel T; Prader S; Steindl K; Pachlopnik Schmid J
Front Immunol; 2022; 13():867206. PubMed ID: 36341443
[TBL] [Abstract][Full Text] [Related]
49. Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation.
Ferrigno F; Franceschini A; Kirk R; Amodeo A
J Cardiovasc Dev Dis; 2022 Dec; 10(1):. PubMed ID: 36661903
[TBL] [Abstract][Full Text] [Related]
50. Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.
Nacinovich R; Villa N; Redaelli S; Broggi F; Bomba M; Stoppa P; Scatigno A; Selicorni A; Dalprà L; Neri F
BMC Res Notes; 2014 Apr; 7():248. PubMed ID: 24742288
[TBL] [Abstract][Full Text] [Related]
51. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
Coldren CD; Lai Z; Shragg P; Rossi E; Glidewell SC; Zuffardi O; Mattina T; Ivy DD; Curfs LM; Mattson SN; Riley EP; Treier M; Grossfeld PD
Neurogenetics; 2009 Apr; 10(2):89-95. PubMed ID: 18855024
[TBL] [Abstract][Full Text] [Related]
52. Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.
Baronio M; Saettini F; Gazzurelli L; Rossi S; Marzollo A; Ricci S; Zama D; Palterer B; Clementina C; Lorenzo L; Chiarini M; Sottini A; Imberti L; Gorio C; Rossini L; Badolato R; Plebani A; Moratto D; Lougaris V
J Clin Immunol; 2022 Feb; 42(2):365-374. PubMed ID: 34802108
[TBL] [Abstract][Full Text] [Related]
53. FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion.
Garcia MD; Ventura CV; Berrocal AM
J Pediatr Ophthalmol Strabismus; 2017 Nov; 54():e71-e74. PubMed ID: 29156058
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.
Michaelis RC; Velagaleti GV; Jones C; Pivnick EK; Phelan MC; Boyd E; Tarleton J; Wilroy RS; Tunnacliffe A; Tharapel AT
Am J Med Genet; 1998 Mar; 76(3):222-8. PubMed ID: 9508241
[TBL] [Abstract][Full Text] [Related]
56. A case of Jacobsen syndrome with multifocal white matter lesions.
Yu F; Carter JE; Bazan C
Clin Imaging; 2016; 40(4):705-6. PubMed ID: 27317214
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Multiple cerebral cysts are another possible feature of Jacobsen syndrome.
Dowa Y; Shiihara T
Brain Dev; 2020 Sep; 42(8):626. PubMed ID: 32684377
[No Abstract] [Full Text] [Related]
59. [Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas].
Fernández González N; Prieto Espuñes S; Ibáñez Fernández A; Fernández Colomer B; López Sastre J; Fernández Toral J
An Esp Pediatr; 2002 Sep; 57(3):249-52. PubMed ID: 12199949
[TBL] [Abstract][Full Text] [Related]
60. Janus kinase 3 missense mutation in a child with Jacobsen syndrome.
Lotz DR; Knutsen AP
Ann Allergy Asthma Immunol; 2010 Jun; 104(6):536-7. PubMed ID: 20568388
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]