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Volumn 39, Issue 6, 2012, Pages 1292-1293

Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: Promise and caution

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 2;

EID: 84861903694     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00218911     Document Type: Editorial
Times cited : (5)

References (11)
  • 1
    • 33748314526 scopus 로고    scopus 로고
    • High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension
    • Cogan JD, Pauciulo MW, Batchman AP, et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med 2006; 174: 590-598.
    • (2006) Am J Respir Crit Care Med , vol.174 , pp. 590-598
    • Cogan, J.D.1    Pauciulo, M.W.2    Batchman, A.P.3
  • 2
    • 16444370817 scopus 로고    scopus 로고
    • Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension
    • Cogan JD, Vnencak-Jones CL, Phillips JA 3rd, et al. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. Genet Med 2005; 7: 169-174.
    • (2005) Genet Med , vol.7 , pp. 169-174
    • Cogan, J.D.1    Vnencak-Jones, C.L.2    Phillips III, J.A.3
  • 3
    • 0033817459 scopus 로고    scopus 로고
    • Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
    • International PPH Consortium
    • International PPH Consortium, Lane KB, Machado RD, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension. Nat Genet 2000; 26: 81-84.
    • (2000) Nat Genet , vol.26 , pp. 81-84
    • Lane, K.B.1    Machado, R.D.2
  • 4
    • 0033838125 scopus 로고    scopus 로고
    • Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene
    • Deng Z,Morse JH, Slager SL, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000; 67: 737-744.
    • (2000) Am J Hum Genet , vol.67 , pp. 737-744
    • Deng, Z.1    Morse, J.H.2    Slager, S.L.3
  • 5
    • 63749109111 scopus 로고    scopus 로고
    • Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
    • Hamid R, Cogan JD, Hedges LK, et al. Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. Hum Mutat 2009; 30: 649-654.
    • (2009) Hum Mutat , vol.30 , pp. 649-654
    • Hamid, R.1    Cogan, J.D.2    Hedges, L.K.3
  • 6
    • 77957790511 scopus 로고    scopus 로고
    • Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection
    • Chopra M, Amor DJ, Sutton L, et al. Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. Reprod Biomed Online 2010; 20: 843-847.
    • (2010) Reprod Biomed Online , vol.20 , pp. 843-847
    • Chopra, M.1    Amor, D.J.2    Sutton, L.3
  • 7
    • 84861850389 scopus 로고    scopus 로고
    • Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation
    • Frydman N, Steffann J, Girerd B, et al. Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation. Eur Respir J 2012; 39: 1534-1535.
    • (2012) Eur Respir J , vol.39 , pp. 1534-1535
    • Frydman, N.1    Steffann, J.2    Girerd, B.3
  • 8
    • 0037035126 scopus 로고    scopus 로고
    • The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization
    • Hansen M, Kurinczuk JJ, Bower C, et al. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002; 346: 725-7230.
    • (2002) N Engl J Med , vol.346 , pp. 725-7230
    • Hansen, M.1    Kurinczuk, J.J.2    Bower, C.3
  • 9
    • 41949136579 scopus 로고    scopus 로고
    • Intracytoplasmic sperm injection (ICSI) - What are the risks?
    • Alukal JP, Lamb DJ. Intracytoplasmic sperm injection (ICSI) - what are the risks? Urol Clin North Am 2008; 35: 277-288.
    • (2008) Urol Clin North Am , vol.35 , pp. 277-288
    • Alukal, J.P.1    Lamb, D.J.2
  • 10
    • 40749114730 scopus 로고    scopus 로고
    • Safety of assisted reproduction, assessed by risk of abnormalities in children born after use of in vitro fertilization techniques
    • Alukal JP, Lipshultz LI. Safety of assisted reproduction, assessed by risk of abnormalities in children born after use of in vitro fertilization techniques. Nat Clin Pract Urol 2008; 5: 140-150.
    • (2008) Nat Clin Pract Urol , vol.5 , pp. 140-150
    • Alukal, J.P.1    Lipshultz, L.I.2
  • 11
    • 55449116475 scopus 로고    scopus 로고
    • Genetic considerations related to intracytoplasmic sperm injection (ICSI)
    • Practice Committee of American Society for Reproductive Medicine., Practice Committee of Society for Assisted Reproductive Technology
    • Practice Committee of American Society for Reproductive Medicine., Practice Committee of Society for Assisted Reproductive Technology. Genetic considerations related to intracytoplasmic sperm injection (ICSI). Fertil Steril 2008; 90: Suppl. 5, S182-S184.
    • (2008) Fertil Steril , vol.90 , Issue.SUPPL. 5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.