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Items: 1 to 20 of 105

1.

A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1.

Christensen RD, Wiedmeier SE, Yaish HM.

J Perinatol. 2013 Mar;33(3):242-4. doi: 10.1038/jp.2012.53.

PMID:
23443295
2.

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.

Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L.

Am J Med Genet A. 2011 Jan;155A(1):126-9. doi: 10.1002/ajmg.a.33809. No abstract available.

PMID:
21204219
3.

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.

Izumi K, Brooks SS, Feret HA, Zackai EH.

Am J Med Genet A. 2012 Jul;158A(7):1535-41. doi: 10.1002/ajmg.a.35368. Epub 2012 May 21.

PMID:
22614953
4.

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

Stoddart MT, Connor P, Germeshausen M, Ballmaier M, Steward CG.

Pediatr Blood Cancer. 2013 Sep;60(9):E94-6. doi: 10.1002/pbc.24566. Epub 2013 Apr 26.

PMID:
23625800
5.

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P.

Eur J Hum Genet. 2008 Aug;16(8):1014-8. doi: 10.1038/ejhg.2008.89. Epub 2008 May 14.

6.

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, Andrieux J, Lecerf L, Popovici C, Receveur A, Mathieu-Dramard M, Renieri A, Mari F, Philip N.

Am J Med Genet A. 2010 Jul;152A(7):1711-7. doi: 10.1002/ajmg.a.33478.

PMID:
20578134
7.

Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation.

van der Crabben S, van Binsbergen E, Ausems M, Poot M, Bierings M, Buijs A.

Leuk Res. 2010 Jan;34(1):e8-12. doi: 10.1016/j.leukres.2009.06.030. Epub 2009 Aug 12. No abstract available.

PMID:
19679353
8.

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE.

Blood. 2008 Aug 15;112(4):1042-7. doi: 10.1182/blood-2008-01-135970. Epub 2008 May 16.

9.

CAMT in a female with developmental delay, facial malformations and central nervous system anomalies.

Martinón-Torres N, Vázquez-Donsión M, Loidi L, Couselo JM.

Pediatr Blood Cancer. 2011 Mar;56(3):452-3. doi: 10.1002/pbc.22904. Epub 2010 Nov 12.

PMID:
21225925
10.

Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.

Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA.

Am J Med Genet A. 2011 Jul;155A(7):1673-9. doi: 10.1002/ajmg.a.34024. Epub 2011 May 27.

PMID:
21626672
11.

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Bouman A, Knegt L, Gröschel S, Erpelinck C, Sanders M, Delwel R, Kuijpers T, Cobben JM.

Am J Med Genet A. 2016 Feb;170A(2):504-9. doi: 10.1002/ajmg.a.37451. Epub 2015 Nov 10.

PMID:
26554871
12.

Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.

Saqlain N, Ahmed N, Qamar U.

J Coll Physicians Surg Pak. 2014 Nov;24 Suppl 3:S253-5. doi: 11.2014/JCPSP.S253S255.

PMID:
25518793
13.

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

Nelson M, Quinonez S, Ackley T, Iyer RK, Innis JW.

Am J Med Genet A. 2011 Mar;155A(3):612-7. doi: 10.1002/ajmg.a.33808. Epub 2011 Feb 22.

PMID:
21344629
14.

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).

Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, Feijó MJ, Lima MR, Pinto MR.

Rev Port Cardiol. 2005 Mar;24(3):349-71. English, Portuguese.

PMID:
15929620
15.

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K.

Am J Med Genet A. 2015 Nov;167A(11):2822-5. doi: 10.1002/ajmg.a.37275. Epub 2015 Aug 6.

PMID:
26386261
16.

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G.

Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10.

PMID:
21671372
17.

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients.

King S, Germeshausen M, Strauss G, Welte K, Ballmaier M.

Br J Haematol. 2005 Dec;131(5):636-44.

PMID:
16351641
18.

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.

Ballmaier M, Germeshausen M.

Semin Thromb Hemost. 2011 Sep;37(6):673-81. doi: 10.1055/s-0031-1291377. Epub 2011 Nov 18. Review.

PMID:
22102270
19.

Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.

Marletta C, Valli R, Pressato B, Mare L, Montalbano G, Menna G, Loffredo G, Bernardo ME, Vinti L, Ferrari S, Di Cesare-Merlone A, Zecca M, Lo Curto F, Locatelli F, Pasquali F, Maserati E.

Mol Cytogenet. 2012 Oct 1;5(1):39. doi: 10.1186/1755-8166-5-39.

20.

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.

Antony-Debré I, Manchev VT, Balayn N, Bluteau D, Tomowiak C, Legrand C, Langlois T, Bawa O, Tosca L, Tachdjian G, Leheup B, Debili N, Plo I, Mills JA, French DL, Weiss MJ, Solary E, Favier R, Vainchenker W, Raslova H.

Blood. 2015 Feb 5;125(6):930-40. doi: 10.1182/blood-2014-06-585513. Epub 2014 Dec 9.

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