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Volumn 6, Issue 1, 2010, Pages

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: A case based review

Author keywords

[No Author keywords available]

Indexed keywords

COTRIMOXAZOLE; IMMUNOGLOBULIN; LAMOTRIGINE;

EID: 81055149155     PISSN: 17101484     EISSN: 17101492     Source Type: Journal    
DOI: 10.1186/1710-1492-6-12     Document Type: Review
Times cited : (27)

References (60)
  • 1
    • 0000419304 scopus 로고
    • Agammaglobulinemia
    • 14929630
    • Agammaglobulinemia. Bruton O, Pediatrics 1952 9 722 8 14929630
    • (1952) Pediatrics , vol.9 , pp. 722-8
    • Bruton, O.1
  • 2
    • 35548965046 scopus 로고    scopus 로고
    • Immunological and genetic bases of new primary immunodeficiencies
    • DOI 10.1038/nri2195, PII NRI2195
    • Immunological and genetic bases of new primary immunodeficiencies. Marádi L, Notarangelo L, Nat Rev Immunol 2007 7 851 61 10.1038/nri2195 17960151 (Pubitemid 350006242)
    • (2007) Nature Reviews Immunology , vol.7 , Issue.11 , pp. 851-861
    • Marodi, L.1    Notarangelo, L.D.2
  • 3
    • 34948872289 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
    • 10.1016/j.jaci.2007.08.053 17952897
    • Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Geha R, Notarangelo L, Casanova J, Chapel H, Conley M, Fischer A, Hammarström L, Nonoyama S, Ochs H, Puck J, et al. J Allergy Clin Immunol 2007 120 776 94 10.1016/j.jaci.2007.08.053 17952897
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 776-94
    • Geha, R.1    Notarangelo, L.2    Casanova, J.3    Chapel, H.4    Conley, M.5    Fischer, A.6    Hammarström, L.7    Nonoyama, S.8    Ochs, H.9    Puck, J.10
  • 4
    • 34249718476 scopus 로고    scopus 로고
    • Genetic causes of bronchiectasis: Primary immune deficiencies and the lung
    • DOI 10.1159/000101784
    • Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Notarangelo LD, Plebani A, Mazzolari E, Soresina A, Bondioni MP, Respiration 2007 74 264 75 10.1159/000101784 17534129 (Pubitemid 46828134)
    • (2007) Respiration , vol.74 , Issue.3 , pp. 264-275
    • Notarangelo, L.D.1    Plebani, A.2    Mazzolari, E.3    Soresina, A.4    Bondioni, M.P.5
  • 5
    • 0036719682 scopus 로고    scopus 로고
    • Diagnosis of immunodeficiency: Clinical clues and diagnostic tests
    • 10.1007/s11882-002-0066-2 12165199
    • Diagnosis of immunodeficiency: clinical clues and diagnostic tests. Paul ME, Curr Allergy Asthma Rep 2002 2 349 55 10.1007/s11882-002-0066-2 12165199
    • (2002) Curr Allergy Asthma Rep , vol.2 , pp. 349-55
    • Paul, M.E.1
  • 6
    • 4344706163 scopus 로고    scopus 로고
    • Functional and molecular evaluation of lymphocytes
    • DOI 10.1016/j.jaci.2004.06.001, PII S0091674904015854
    • Functional and molecular evaluation of lymphocytes. Fleisher TA, Oliveira JB, J Allergy Clin Immunol 2004 114 227 34 quiz 235 10.1016/j.jaci.2004.06.001 15316494 (Pubitemid 39119016)
    • (2004) Journal of Allergy and Clinical Immunology , vol.114 , Issue.2 , pp. 227-234
    • Fleisher, T.A.1    Bosco Oliveira, J.2
  • 7
    • 56749183339 scopus 로고    scopus 로고
    • Applications of flow cytometry for the study of primary immune deficiencies
    • 10.1097/ACI.0b013e328312c790 18978463
    • Applications of flow cytometry for the study of primary immune deficiencies. Oliveira JB, Notarangelo LD, Fleisher TA, Curr Opin Allergy Clin Immunol 2008 8 499 509 10.1097/ACI.0b013e328312c790 18978463
    • (2008) Curr Opin Allergy Clin Immunol , vol.8 , pp. 499-509
    • Oliveira, J.B.1    Notarangelo, L.D.2    Fleisher, T.A.3
  • 8
    • 62149122238 scopus 로고    scopus 로고
    • Functional flow cytometry testing: An emerging approach for the evaluation of genetic disease
    • Epub 2009 Jan 15 10.1373/clinchem.2008.119248 19147728
    • Functional flow cytometry testing: an emerging approach for the evaluation of genetic disease. Fleisher TA, Oliveira JB, Clin Chem 2009 55 389 90 Epub 2009 Jan 15 10.1373/clinchem.2008.119248 19147728
    • (2009) Clin Chem , vol.55 , pp. 389-90
    • Fleisher, T.A.1    Oliveira, J.B.2
  • 10
    • 64049096371 scopus 로고    scopus 로고
    • FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
    • Epub 2009 Jan 27 10.1182/blood-2008-09-179630 19176318
    • FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, Arkwright PD, Bader-Meunier B, Barbot J, Blanche S, et al. Blood 2009 113 3027 30 Epub 2009 Jan 27 10.1182/blood-2008-09-179630 19176318
    • (2009) Blood , vol.113 , pp. 3027-30
    • Magerus-Chatinet, A.1    Stolzenberg, M.C.2    Loffredo, M.S.3    Neven, B.4    Schaffner, C.5    Ducrot, N.6    Arkwright, P.D.7    Bader-Meunier, B.8    Barbot, J.9    Blanche, S.10
  • 13
    • 67449086899 scopus 로고    scopus 로고
    • Good laboratory practices for molecular genetic testing for heritable diseases and conditions
    • quiz CE-1-4 19521335
    • Good laboratory practices for molecular genetic testing for heritable diseases and conditions. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD, MMWR Recomm Rep 2009 58 1 37 quiz CE-1-4 19521335
    • (2009) MMWR Recomm Rep , vol.58 , pp. 1-37
    • Chen, B.1    Gagnon, M.2    Shahangian, S.3    Anderson, N.L.4    Howerton, D.A.5    Boone, J.D.6
  • 14
    • 59449104188 scopus 로고    scopus 로고
    • Cellular and Molecular Characterisation of the Hyper Immunoglobulin M Syndrome Associated with Congenital Rubella Infection
    • 10.1007/s10875-008-9219-y 18663564
    • Cellular and Molecular Characterisation of the Hyper Immunoglobulin M Syndrome Associated with Congenital Rubella Infection. Ameratunga R, Woon ST, Koopmans W, French J, J Clin Immunol 2008 29 99 106 10.1007/s10875-008-9219-y 18663564
    • (2008) J Clin Immunol , vol.29 , pp. 99-106
    • Ameratunga, R.1    Woon, S.T.2    Koopmans, W.3    French, J.4
  • 16
    • 1542376017 scopus 로고    scopus 로고
    • Lamotrigine-induced common variable immune deficiency
    • Lamotrigine-induced common variable immune deficiency. Smith J, Fernando T, McGrath N, Ameratunga R, Neurology 2004 62 833 4 15007150 (Pubitemid 38298976)
    • (2004) Neurology , vol.62 , Issue.5 , pp. 833-834
    • Smith, J.1    Fernando, T.2    McGrath, N.3    Ameratunga, R.4
  • 18
    • 0016772968 scopus 로고
    • X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
    • 10.1016/S0140-6736(75)92004-8 48119
    • X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Purtilo DT, Cassel CK, Yang JP, Harper R, Lancet 1975 1 935 40 10.1016/S0140-6736(75)92004-8 48119
    • (1975) Lancet , vol.1 , pp. 935-40
    • Purtilo, D.T.1    Cassel, C.K.2    Yang, J.P.3    Harper, R.4
  • 21
    • 17044424680 scopus 로고    scopus 로고
    • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
    • Epub 2005 Jan 4 10.1182/blood-2004-09-3651 15632210
    • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH, Blood 2005 105 3066 71 Epub 2005 Jan 4 10.1182/blood-2004-09- 3651 15632210
    • (2005) Blood , vol.105 , pp. 3066-71
    • Tabata, Y.1    Villanueva, J.2    Lee, S.M.3    Zhang, K.4    Kanegane, H.5    Miyawaki, T.6    Sumegi, J.7    Filipovich, A.H.8
  • 22
    • 1942467832 scopus 로고    scopus 로고
    • Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia [1]
    • DOI 10.1016/j.jaci.2003.10.061
    • Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia. Morwood K, Bourne H, Gold M, Gillis D, Benson EM, J Allergy Clin Immunol 2004 113 783 5 10.1016/j.jaci.2003.10.061 15112668 (Pubitemid 38530437)
    • (2004) Journal of Allergy and Clinical Immunology , vol.113 , Issue.4 , pp. 783-785
    • Morwood, K.1    Bourne, H.2    Philpot, R.3    Gold, M.4    Gillis, D.5    Benson, E.M.6
  • 23
    • 0032756539 scopus 로고    scopus 로고
    • Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
    • 10.1093/hmg/8.13.2407 10556288
    • Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, et al. Hum Mol Genet 1999 8 2407 13 10.1093/hmg/8.13.2407 10556288
    • (1999) Hum Mol Genet , vol.8 , pp. 2407-13
    • Brandau, O.1    Schuster, V.2    Weiss, M.3    Hellebrand, H.4    Fink, F.M.5    Kreczy, A.6    Friedrich, W.7    Strahm, B.8    Niemeyer, C.9    Belohradsky, B.H.10
  • 24
    • 0037395736 scopus 로고    scopus 로고
    • Benign and malignant Epstein-Barr virus-associated B-cell lymphoproliferative diseases
    • DOI 10.1016/S0037-1963(03)70003-1
    • Benign and malignant Epstein-Barr virus-associated B-cell lymphoproliferative diseases. Cohen JI, Semin Hematol 2003 40 116 23 10.1016/S0037-1963(03)70003-1 12704588 (Pubitemid 36461089)
    • (2003) Seminars in Hematology , vol.40 , Issue.2 , pp. 116-123
    • Cohen, J.I.1
  • 25
    • 13144302865 scopus 로고    scopus 로고
    • Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
    • DOI 10.1111/j.0105-2896.2005.00230.x
    • Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG, Immunol Rev 2005 203 180 99 10.1111/j.0105-2896.2005.00230.x 15661030 (Pubitemid 40179702)
    • (2005) Immunological Reviews , vol.203 , pp. 180-199
    • Nichols, K.E.1    Ma, C.S.2    Cannons, J.L.3    Schwartzberg, P.L.4    Tangye, S.G.5
  • 27
    • 53949124330 scopus 로고    scopus 로고
    • X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
    • Epub 2008 Sep 6 10.1016/j.clim.2008.07.022 18774749
    • X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation. Lewis EM, Singla M, Sergeant S, Koty PP, McPhail LC, Clin Immunol 2008 129 372 80 Epub 2008 Sep 6 10.1016/j.clim.2008.07.022 18774749
    • (2008) Clin Immunol , vol.129 , pp. 372-80
    • Lewis, E.M.1    Singla, M.2    Sergeant, S.3    Koty, P.P.4    McPhail, L.C.5
  • 28
    • 33645298231 scopus 로고    scopus 로고
    • Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family
    • 10.1111/j.1365-2362.2006.01619.x 16620288
    • Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. Koker MY, Sanal O, de Boer M, Tezcan I, Metin A, Tan C, Ersoy F, Roos D, Eur J Clin Invest 2006 36 257 64 10.1111/j.1365-2362.2006.01619.x 16620288
    • (2006) Eur J Clin Invest , vol.36 , pp. 257-64
    • Koker, M.Y.1    Sanal, O.2    De Boer, M.3    Tezcan, I.4    Metin, A.5    Tan, C.6    Ersoy, F.7    Roos, D.8
  • 29
    • 0035116245 scopus 로고    scopus 로고
    • Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization
    • DOI 10.1007/s002770000230
    • Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Rosen-Wolff A, Soldan W, Heyne K, Bickhardt J, Gahr M, Roesler J, Ann Hematol 2001 80 113 5 10.1007/s002770000230 11261321 (Pubitemid 32177958)
    • (2001) Annals of Hematology , vol.80 , Issue.2 , pp. 113-115
    • Rosen-Wolff, A.1    Soldan, W.2    Heyne, K.3    Bickhardt, J.4    Gahr, M.5    Roesler, J.6
  • 30
    • 0030723262 scopus 로고    scopus 로고
    • A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
    • DOI 10.1038/ng1197-353
    • A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, Winter RM, Willard HF, Nat Genet 1997 17 353 6 10.1038/ng1197-353 9354806 (Pubitemid 27476005)
    • (1997) Nature Genetics , vol.17 , Issue.3 , pp. 353-356
    • Plenge, R.M.1    Hendrich, B.D.2    Schwartz, C.3    Arena, J.F.4    Naumova, A.5    Sapienza, C.6    Winter, R.M.7    Willard, H.F.8
  • 31
    • 34548836555 scopus 로고    scopus 로고
    • X-linked clonality testing: Interpretation and limitations
    • DOI 10.1182/blood-2006-09-018655
    • X-linked clonality testing: interpretation and limitations. Chen GL, Prchal JT, Blood 2007 110 1411 9 10.1182/blood-2006-09-018655 17435115 (Pubitemid 47443955)
    • (2007) Blood , vol.110 , Issue.5 , pp. 1411-1419
    • Chen, G.L.1    Prchal, J.T.2
  • 34
    • 0036718154 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease: Genetic lesions and clinical consequences
    • 10.1007/s11882-002-0068-0 12165201
    • X-linked lymphoproliferative disease: genetic lesions and clinical consequences. MacGinnitie A, Geha R, Curr Allergy Asthma Rep 2002 2 361 7 10.1007/s11882-002-0068-0 12165201
    • (2002) Curr Allergy Asthma Rep , vol.2 , pp. 361-7
    • MacGinnitie, A.1    Geha, R.2
  • 35
    • 34548445562 scopus 로고    scopus 로고
    • Management of hereditary angioedema in pediatric patients
    • DOI 10.1542/peds.2006-3303
    • Management of hereditary angioedema in pediatric patients. Farkas H, Varga L, Szeplaki G, Visy B, Harmat G, Bowen T, Pediatrics 2007 120 713 22 10.1542/peds.2006-3303 17724112 (Pubitemid 47358332)
    • (2007) Pediatrics , vol.120 , Issue.3
    • Farkas, H.1    Varga, L.2    Szeplaki, G.3    Visy, B.4    Harmat, G.5    Bowen, T.6
  • 36
    • 22844446842 scopus 로고    scopus 로고
    • Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort
    • DOI 10.1002/humu.20197
    • Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez-Trascasa M, Hum Mutat 2005 26 135 44 10.1002/humu.20197 15971231 (Pubitemid 41040682)
    • (2005) Human Mutation , vol.26 , Issue.2 , pp. 135-144
    • Roche, O.1    Blanch, A.2    Duponchel, C.3    Fontan, G.4    Tosi, M.5    Lopez-Trascasa, M.6
  • 37
    • 0035162630 scopus 로고    scopus 로고
    • Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
    • DOI 10.1002/1098-1004(20 01)17:1<61::AID-HU MU7>3.0.CO;2-9
    • Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Duponchel C, Di Rocco C, Cicardi M, Tosi M, Hum Mutat 2001 17 61 70 10.1002/1098-1004(2001)17:1<61::AID-HUMU7>3.0.CO;2-9 11139243 (Pubitemid 32051874)
    • (2001) Human Mutation , vol.17 , Issue.1 , pp. 61-70
    • Duponchel, C.1    Rocco, C.D.2    Cicardi, M.3    Tosi, M.4
  • 40
    • 47149115696 scopus 로고    scopus 로고
    • Recent advances in gene therapy for severe congenital immunodeficiency diseases
    • 10.1097/MOH.0b013e328302c807 18536577
    • Recent advances in gene therapy for severe congenital immunodeficiency diseases. Sokolic R, Kesserwan C, Candotti F, Curr Opin Hematol 2008 15 375 80 10.1097/MOH.0b013e328302c807 18536577
    • (2008) Curr Opin Hematol , vol.15 , pp. 375-80
    • Sokolic, R.1    Kesserwan, C.2    Candotti, F.3
  • 45
    • 33749425850 scopus 로고    scopus 로고
    • Chronic granulomatous disease; fundamental stages in our understanding of CGD
    • DOI 10.1186/1476-9433-5-4
    • Chronic Granulomatous Disease; fundamental stages in our understanding of CGD. Assari T, Med Immunol 2006 5 4 10.1186/1476-9433-5-4 16989665 (Pubitemid 44509566)
    • (2006) Medical Immunology , vol.5 , pp. 4
    • Assari, T.1
  • 46
    • 70350451062 scopus 로고    scopus 로고
    • A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity
    • 10.1182/blood-2009-07-231498 19692703
    • A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, Marchal CC, Stull ND, Lewis DB, Steele M, et al. Blood 2009 114 3309 15 10.1182/blood-2009-07-231498 19692703
    • (2009) Blood , vol.114 , pp. 3309-15
    • Matute, J.D.1    Arias, A.A.2    Wright, N.A.3    Wrobel, I.4    Waterhouse, C.C.5    Li, X.J.6    Marchal, C.C.7    Stull, N.D.8    Lewis, D.B.9    Steele, M.10
  • 51
    • 66749092909 scopus 로고    scopus 로고
    • Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions
    • 10.1111/j.1365-2141.2009.07669.x 19344423
    • Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Chapel H, Cunningham-Rundles C, Br J Haematol 2009 145 709 27 10.1111/j.1365-2141.2009. 07669.x 19344423
    • (2009) Br J Haematol , vol.145 , pp. 709-27
    • Chapel, H.1    Cunningham-Rundles, C.2
  • 52
    • 77950425996 scopus 로고    scopus 로고
    • High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis
    • 10.1002/humu.21213 20127985
    • High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis. Vossen RH, van Duijn M, Daha MR, den Dunnen JT, Roos A, Hum Mutat 31 1286 93 10.1002/humu.21213 20127985
    • Hum Mutat , vol.31 , pp. 51286-93
    • Vossen, R.H.1    Van Duijn, M.2    Daha, M.R.3    Den Dunnen, J.T.4    Roos, A.5
  • 54
    • 34948870078 scopus 로고    scopus 로고
    • Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation
    • DOI 10.1016/j.jaci.2007.08.043, PII S0091674907016430
    • Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. Puck JM, J Allergy Clin Immunol 2007 120 760 8 10.1016/j.jaci.2007.08.043 17931561 (Pubitemid 47542285)
    • (2007) Journal of Allergy and Clinical Immunology , vol.120 , Issue.4 , pp. 760-768
    • Puck, J.M.1
  • 56
    • 45149104257 scopus 로고    scopus 로고
    • Investigating genetic discrimination in Australia: A large-scale survey of clinical genetics clients
    • DOI 10.1111/j.1399-0004.2008.01016.x
    • Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients. Taylor S, Treloar S, Barlow-Stewart K, Stranger M, Otlowski M, Clin Genet 2008 74 20 30 10.1111/j.1399-0004.2008.01016.x 18492091 (Pubitemid 351833815)
    • (2008) Clinical Genetics , vol.74 , Issue.1 , pp. 20-30
    • Taylor, S.1    Treloar, S.2    Barlow-Stewart, K.3    Stranger, M.4    Otlowski, M.5
  • 57
    • 70449516737 scopus 로고    scopus 로고
    • Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: An efficient strategy for a small developed country
    • 19859091
    • Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country. Ameratunga R, Woon ST, N Z Med J 2009 122 46 53 19859091
    • (2009) N Z Med J , vol.122 , pp. 46-53
    • Ameratunga, R.1    Woon, S.T.2
  • 58
    • 31344443014 scopus 로고    scopus 로고
    • Carrier testing in minors: A systematic review of guidelines and position papers
    • DOI 10.1038/sj.ejhg.5201509, PII 5201509
    • Carrier testing in minors: a systematic review of guidelines and position papers. Borry P, Fryns JP, Schotsmans P, Dierickx K, Eur J Hum Genet 2006 14 133 8 10.1038/sj.ejhg.5201509 16267502 (Pubitemid 43135853)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.2 , pp. 133-138
    • Borry, P.1    Fryns, J.-P.2    Schotsmans, P.3    Dierickx, K.4
  • 59
    • 33749473075 scopus 로고    scopus 로고
    • Presymptomatic and predictive genetic testing in minors: A systematic review of guidelines and position papers
    • DOI 10.1111/j.1399-0004.2006.00692.x
    • Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K, Clin Genet 2006 70 374 81 10.1111/j.1399-0004.2006.00692.x 17026616 (Pubitemid 44515636)
    • (2006) Clinical Genetics , vol.70 , Issue.5 , pp. 374-381
    • Borry, P.1    Stultiens, L.2    Nys, H.3    Cassiman, J.-J.4    Dierickx, K.5


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