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Jacobsen syndrome.

Mattina T, Perrotta CS, Grossfeld P.

Orphanet J Rare Dis. 2009 Mar 7;4:9. Review.PMID: 19267933 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 18564501 [PubMed - indexed for MEDLINE]Related articles

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

Obregon MG, Mingarelli R, Digilio MC, Zelante L, Giannotti A, Sabatino G, Dallapiccola B.

Ann Genet. 1992;35(4):208-12.PMID: 1296516 [PubMed - indexed for MEDLINE]Related articles

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 1;146A(19):2449-54.PMID: 18792974 [PubMed - indexed for MEDLINE]Related articles

Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.

Jones C, Slijepcevic P, Marsh S, Baker E, Langdon WY, Richards RI, Tunnacliffe A.

Hum Mol Genet. 1994 Dec;3(12):2123-30.PMID: 7881408 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19029687 [PubMed - indexed for MEDLINE]Related articlesFree article

11q- syndrome: three cases and a review of the literature.

Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ.

Genet Couns. 1999;10(3):305-13. Review.PMID: 10546104 [PubMed - indexed for MEDLINE]Related articles

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. Review.PMID: 19449434 [PubMed - indexed for MEDLINE]Related articles

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 Jr, Kousseff B, Mattina T, et al.

Am J Hum Genet. 1995 Mar;56(3):676-83.PMID: 7887422 [PubMed - indexed for MEDLINE]Related articlesFree article

Monosomy 18p.

Turleau C.

Orphanet J Rare Dis. 2008 Feb 19;3:4. Review.PMID: 18284672 [PubMed - indexed for MEDLINE]Related articlesFree article

Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.PMID: 17222357 [PubMed - indexed for MEDLINE]Related articlesFree article

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 11;1:23.PMID: 19000322 [PubMed - in process]Related articlesFree article

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.

Battaglia A, Filippi T, Carey JC.

Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):246-51.PMID: 18932224 [PubMed - indexed for MEDLINE]Related articles

Partial monosomy 11q and trisomy 12q: variable expression in two siblings.

Lukusa T, Holvoet M, Vermeesch JR, Devriendt K, Fryns JP.

Genet Couns. 2003;14(2):155-64.PMID: 12872809 [PubMed - indexed for MEDLINE]Related articles

Jacobsen syndrome: chromosome deletion at 11q23.

Clang DR, LaBaere RJ 2nd.

J Am Osteopath Assoc. 1998 Oct;98(10):551-4.PMID: 9821738 [PubMed - indexed for MEDLINE]Related articles

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. Review.PMID: 17786114 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19533782 [PubMed - indexed for MEDLINE]Related articles

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT.

J Med Genet. 1996 Sep;33(9):772-8. Review.PMID: 8880580 [PubMed - indexed for MEDLINE]Related articlesFree article

[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. Spanish. PMID: 12199949 [PubMed - indexed for MEDLINE]Related articlesFree article

Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q.

Tunnacliffe A, Jones C, Le Paslier D, Todd R, Cherif D, Birdsall M, Devenish L, Yousry C, Cotter FE, James MR.

Genome Res. 1999 Jan;9(1):44-52.PMID: 9927483 [PubMed - indexed for MEDLINE]Related articlesFree article