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Results: 1 to 20 of 214

Similar articles for PubMed (Select 19553636)

1.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

Graziano C, Carone S, Panza E, Marino F, Magini P, Romeo G, Pession A, Seri M.

Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24.

2.

Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias.

Houwing ME, Koopman-Coenen EA, Kersseboom R, Gooskens S, Appel IM, Arentsen-Peters ST, de Vries AC, Reinhardt D, Stary J, Baruchel A, de Haas V, Blink M, Lopes Cardozo RH, Pieters R, Michel Zwaan C, van den Heuvel-Eibrink MM.

Int J Hematol. 2015 Mar 3. [Epub ahead of print]

PMID:
25728710
3.

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
4.

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Hong WJ, Gotlib J.

Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.

PMID:
25189721
5.

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Isrie M, Wuyts W, Van Esch H, Devriendt K.

Am J Med Genet A. 2014 Jun;164A(6):1576-9. doi: 10.1002/ajmg.a.36486. Epub 2014 Mar 25.

PMID:
24668619
6.

Clinical utility gene card for: hereditary thrombocythemia.

Hussein K, Percy M, McMullin MF, Schwarz J, Schnittger S, Porret N, Martinez-Aviles LM, Paricio BB, Giraudier S, Skoda R, Lippert E, Hermouet S, Cario H.

Eur J Hum Genet. 2014 Feb;22(2). doi: 10.1038/ejhg.2013.117. Epub 2013 Jun 5. No abstract available.

7.

MPL Baltimore mutation and thrombocytosis: case report and literature review.

Shkalim-Zemer V, Dgany O, Krasnov T, Yacobovich J, Tamary H.

J Pediatr Hematol Oncol. 2013 Apr;35(3):e112-4. doi: 10.1097/MPH.0b013e318286d54c. Review.

PMID:
23511495
8.

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.

Graziano C, David M, Magini P, Superti-Furga A, Seri M.

Am J Med Genet A. 2012 Dec;158A(12):3211-3. doi: 10.1002/ajmg.a.35656. Epub 2012 Nov 19. No abstract available.

PMID:
23165915
9.

Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.

Stockklausner C, Echner N, Klotter AC, Hegenbart U, Dreger P, Kulozik AE.

Ann Hematol. 2012 Jul;91(7):1129-33. doi: 10.1007/s00277-012-1453-y. Epub 2012 Mar 28.

PMID:
22453305
10.

A transgenic, mesodermal specific, Dkk1 mouse model recapitulates a spectrum of human congenital limb reduction defects.

Dela Cruz F, Terry M, Matushansky I.

Differentiation. 2012 Apr;83(4):220-30. doi: 10.1016/j.diff.2012.01.001. Epub 2012 Mar 8.

11.

A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.

Furuta N, Ikeda M, Hirayanagi K, Fujita Y, Amanuma M, Okamoto K.

Intern Med. 2012;51(1):93-8. Epub 2012 Jan 1.

12.

A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia.

Zhang B, Ng D, Jones C, Oh ST, Nolan GP, Salehi S, Wong W, Zehnder JL, Gotlib J.

Blood. 2011 Dec 22;118(26):6988-90. doi: 10.1182/blood-2011-10-386177. No abstract available.

13.

Genetic drift. Saving Grace: On the nature of syndromes and the missed Nobel.

Wilson GN.

Am J Med Genet A. 2011 Mar;155A(3):466-8. doi: 10.1002/ajmg.a.33854. Epub 2011 Feb 22. No abstract available.

PMID:
21567903
14.

Advances in understanding the pathogenesis of familial thrombocythaemia.

Teofili L, Larocca LM.

Br J Haematol. 2011 Mar;152(6):701-12. doi: 10.1111/j.1365-2141.2010.08500.x. Epub 2011 Feb 8. Review.

PMID:
21303356
15.

A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.

Chung HS, Koh KN, Kim HJ, Kim HJ, Lee KO, Park CJ, Chi HS, Kim SH, Seo JJ, Im HJ.

Pediatr Blood Cancer. 2011 Feb;56(2):304-6. doi: 10.1002/pbc.22842.

PMID:
21162090
16.

Hereditary thrombocytosis not as innocent as thought? Development into acute leukemia and myelofibrosis.

Posthuma HL, Skoda RC, Jacob FA, van der Maas AP, Valk PJ, Posthuma EF.

Blood. 2010 Oct 28;116(17):3375-6. doi: 10.1182/blood-2010-06-290718. No abstract available.

17.

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association.

Arrington CB, Patel A, Bacino CA, Bowles NE.

Am J Med Genet A. 2010 Nov;152A(11):2919-23. doi: 10.1002/ajmg.a.33718. No abstract available.

PMID:
20949626
18.

Examining the evidence for vascular pathogenesis of selected birth defects.

Sadler TW, Rasmussen SA.

Am J Med Genet A. 2010 Oct;152A(10):2426-36. doi: 10.1002/ajmg.a.33636.

PMID:
20815034
19.

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.

Drijvers JM, Lefeber DJ, de Munnik SA, Pfundt R, van de Leeuw N, Marcelis C, Thiel C, Koerner C, Wevers RA, Morava E.

Clin Genet. 2010 May;77(5):507-9. doi: 10.1111/j.1399-0004.2009.01349.x. No abstract available.

PMID:
20447155
20.

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.

Am J Med Genet A. 2010 Apr;152A(4):1033-5. doi: 10.1002/ajmg.a.33151. No abstract available.

PMID:
20358622
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