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

被引:5
作者
Hamid, Rizwan [3 ,4 ]
Loyd, James [1 ,2 ]
机构
[1] Vanderbilt Univ, Med Ctr, Dept Med, Sch Med, Nashville, TN 37232 USA
[2] Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Nashville, TN 37232 USA
[3] Vanderbilt Univ, Sch Med, Dept Pediat, Nashville, TN 37232 USA
[4] Vanderbilt Univ, Sch Med, Div Genet & Genom Med, Nashville, TN 37232 USA
关键词
SPERM INJECTION; BMPR2; MUTATIONS; RECEPTOR; RISK;
D O I
10.1183/09031936.00218911
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
引用
收藏
页码:1292 / 1293
页数:2
相关论文
共 11 条
[1]   Intracytoplasinic sperm injection (ICSI) - What are the risks? [J].
Alukal, Joseph P. ;
Lamb, Dolores J. .
UROLOGIC CLINICS OF NORTH AMERICA, 2008, 35 (02) :277-+
[2]   Safety of assisted reproduction, assessed by risk of abnormalities in children born after use of in vitro fertilization techniques [J].
Alukal, Joseph P. ;
Lipshultz, Larry I. .
NATURE CLINICAL PRACTICE UROLOGY, 2008, 5 (03) :140-150
[3]   Genetic considerations related to intracytoplasmic sperm injection (ICSI) [J].
不详 .
FERTILITY AND STERILITY, 2008, 90 :S182-S184
[4]   Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection [J].
Chopra, M. ;
Amor, D. J. ;
Sutton, L. ;
Algar, E. ;
Mowat, D. .
REPRODUCTIVE BIOMEDICINE ONLINE, 2010, 20 (06) :843-847
[5]   Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension [J].
Cogan, JD ;
Vnencak-Jones, CL ;
Phillips, JA ;
Lane, KB ;
Wheeler, LA ;
Robbins, IM ;
Garrison, G ;
Hedges, LK ;
Loyd, JE .
GENETICS IN MEDICINE, 2005, 7 (03) :169-174
[6]   High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension [J].
Cogan, Joy D. ;
Pauciulo, Michael W. ;
Batchman, Amy P. ;
Prince, Melissa A. ;
Robbins, Ivan M. ;
Hedges, Lora K. ;
Stanton, Krista C. ;
Wheeler, Lisa A. ;
Phillips, John A., III ;
Loyd, James E. ;
Nichols, William C. .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2006, 174 (05) :590-598
[7]   Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene [J].
Deng, ZM ;
Morse, JH ;
Slager, SL ;
Cuervo, N ;
Moore, KJ ;
Venetos, G ;
Kalachikov, S ;
Cayanis, E ;
Fischer, SG ;
Barst, RJ ;
Hodge, SE ;
Knowles, JA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (03) :737-744
[8]   Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation [J].
Frydman, Nelly ;
Steffann, Julie ;
Girerd, Barbara ;
Frydman, Rene ;
Munnich, Arnold ;
Simonneau, Gerald ;
Humbert, Marc .
EUROPEAN RESPIRATORY JOURNAL, 2012, 39 (06) :1534-1535
[9]   Penetrance of Pulmonary Arterial Hypertension Is Modulated by the Expression of Normal BMPR2 Allele [J].
Hamid, Rizwan ;
Cogan, Joy D. ;
Hedges, Lora K. ;
Austin, Eric ;
Phillips, John A., III ;
Newman, John H. ;
Loyd, James E. .
HUMAN MUTATION, 2009, 30 (04) :649-654
[10]   The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. [J].
Hansen, M ;
Kurinczuk, JJ ;
Bower, C ;
Webb, S .
NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (10) :725-730