메뉴 건너뛰기




Volumn 49, Issue 4, 2010, Pages 353-361

Prenatal diagnosis of genodermatoses: Current scope and future capabilities

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA;

EID: 77951987533     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2010.04344.x     Document Type: Review
Times cited : (17)

References (55)
  • 1
    • 33644927003 scopus 로고    scopus 로고
    • Prenatal diagnosis for severe inherited skin disorders: 25 years' experience
    • Fassihi H, Eady RA, Mellerio JE. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Br J Dermatol 2006, 154:106-113.
    • (2006) Br J Dermatol , vol.154 , pp. 106-113
    • Fassihi, H.1    Eady, R.A.2    Mellerio, J.E.3
  • 2
    • 0018923539 scopus 로고
    • Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy
    • Golbus MS, Sagebiel RW, Filly RA. Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. N Engl J Med 1980, 302:93-95.
    • (1980) N Engl J Med , vol.302 , pp. 93-95
    • Golbus, M.S.1    Sagebiel, R.W.2    Filly, R.A.3
  • 3
    • 0018890576 scopus 로고
    • Prenatal diagnosis of epidermolysis bullosa letalis
    • Rodeck CH, Eady RA, Gosden CM. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1980, 1:949-952.
    • (1980) Lancet , vol.1 , pp. 949-952
    • Rodeck, C.H.1    Eady, R.A.2    Gosden, C.M.3
  • 4
    • 0027376504 scopus 로고
    • Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples
    • Holbrook KA, Smith LT, Elias S. Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 1993, 129:1437-1454.
    • (1993) Arch Dermatol , vol.129 , pp. 1437-1454
    • Holbrook, K.A.1    Smith, L.T.2    Elias, S.3
  • 5
    • 36949087390 scopus 로고
    • Antenatal sex determination
    • Fuchs F, Riis P. Antenatal sex determination. Nature 1956, 177:330.
    • (1956) Nature , vol.177 , pp. 330
    • Fuchs, F.1    Riis, P.2
  • 6
    • 0014942203 scopus 로고
    • Role of amniocentesis in the intrauterine detection of genetic disorders
    • Nadler HL, Gerbie AB. Role of amniocentesis in the intrauterine detection of genetic disorders. N Engl J Med 1970, 282:596-599.
    • (1970) N Engl J Med , vol.282 , pp. 596-599
    • Nadler, H.L.1    Gerbie, A.B.2
  • 7
    • 3042556767 scopus 로고    scopus 로고
    • Johns Hopkins University (Baltimore, MD) and US National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), Available at: (last accessed January 16, 2009)
    • McKusick-Nathans Institute for Genetic Medicine 2000, http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim, Johns Hopkins University (Baltimore, MD) and US National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), Available at: (last accessed January 16, 2009)
    • (2000) McKusick-Nathans Institute for Genetic Medicine
  • 8
    • 0026345962 scopus 로고
    • Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities
    • Bonifas JM, Rothman AL, Epstein EH. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 1991, 254:1202-1205.
    • (1991) Science , vol.254 , pp. 1202-1205
    • Bonifas, J.M.1    Rothman, A.L.2    Epstein, E.H.3
  • 9
    • 33845964498 scopus 로고    scopus 로고
    • Prenatal diagnosis of epidermolysis bullosa
    • Shimizu H. Prenatal diagnosis of epidermolysis bullosa. Prenat Diagn 2006, 26:1260-1261.
    • (2006) Prenat Diagn , vol.26 , pp. 1260-1261
    • Shimizu, H.1
  • 10
    • 22144437692 scopus 로고    scopus 로고
    • Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
    • Akiyama M, Sugiyama-Nakagiri Y, Sakai K. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005, 115:1777-1784.
    • (2005) J Clin Invest , vol.115 , pp. 1777-1784
    • Akiyama, M.1    Sugiyama-Nakagiri, Y.2    Sakai, K.3
  • 11
    • 20244379129 scopus 로고    scopus 로고
    • Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
    • Kelsell DP, Norgett EE, Unsworth H. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005, 76:794-803.
    • (2005) Am J Hum Genet , vol.76 , pp. 794-803
    • Kelsell, D.P.1    Norgett, E.E.2    Unsworth, H.3
  • 12
    • 34447095448 scopus 로고    scopus 로고
    • A current and online genodermatosis database
    • Leech SN, Moss C. A current and online genodermatosis database. Br J Dermatol 2007, 156:1115-1148.
    • (2007) Br J Dermatol , vol.156 , pp. 1115-1148
    • Leech, S.N.1    Moss, C.2
  • 13
    • 0038799919 scopus 로고    scopus 로고
    • Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk
    • Pfendner EG, Nakano A, Pulkkinen L. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 2003, 23:447-456.
    • (2003) Prenat Diagn , vol.23 , pp. 447-456
    • Pfendner, E.G.1    Nakano, A.2    Pulkkinen, L.3
  • 14
    • 16544395878 scopus 로고    scopus 로고
    • Prenatal screening and diagnosis for pediatricians
    • Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics 2004, 114:889-894.
    • (2004) Pediatrics , vol.114 , pp. 889-894
    • Cunniff, C.1
  • 15
    • 33748355113 scopus 로고    scopus 로고
    • Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss
    • Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 2006, 1:612-616.
    • (2006) Obstet Gynecol , vol.1 , pp. 612-616
    • Caughey, A.B.1    Hopkins, L.M.2    Norton, M.E.3
  • 16
    • 0028958497 scopus 로고
    • An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS)
    • Burton BK, Schulz CJ, Angle B, Burd LI. An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS). Prenat Diagn 1995, 15:209-214.
    • (1995) Prenat Diagn , vol.15 , pp. 209-214
    • Burton, B.K.1    Schulz, C.J.2    Angle, B.3    Burd, L.I.4
  • 17
    • 0021747220 scopus 로고
    • Skin dimpling associated with midtrimester amniocentesis
    • Bruce S, Duffy JO, Wolf JE. Skin dimpling associated with midtrimester amniocentesis. Pediatr Dermatol 1984, 2:140-142.
    • (1984) Pediatr Dermatol , vol.2 , pp. 140-142
    • Bruce, S.1    Duffy, J.O.2    Wolf, J.E.3
  • 18
    • 0021218066 scopus 로고
    • Needle puncture scars from midtrimester amniocentesis
    • Raimer SS, Raimer BG. Needle puncture scars from midtrimester amniocentesis. Arch Dermatol 1984, 120:1360-1362.
    • (1984) Arch Dermatol , vol.120 , pp. 1360-1362
    • Raimer, S.S.1    Raimer, B.G.2
  • 19
    • 32944480481 scopus 로고    scopus 로고
    • Skin dimpling as a delayed manifestation of traumatic amniocentesis
    • Ahluwalia J, Lowenstein E. Skin dimpling as a delayed manifestation of traumatic amniocentesis. Skinmed 2005, 4:323-324.
    • (2005) Skinmed , vol.4 , pp. 323-324
    • Ahluwalia, J.1    Lowenstein, E.2
  • 21
    • 55449087440 scopus 로고    scopus 로고
    • Preimplantation genetic testing: a Practice Committee opinion
    • Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril 2008, 90(Suppl. 5):S136-S143.
    • (2008) Fertil Steril , vol.90 , Issue.5 SUPPL.
  • 22
    • 0032766534 scopus 로고    scopus 로고
    • Prepregnancy testing for single-gene disorders by polar body analysis
    • Verlinsky Y, Rechitsky S, Verlinsky O. Prepregnancy testing for single-gene disorders by polar body analysis. Genet Test 1999, 3:185-190.
    • (1999) Genet Test , vol.3 , pp. 185-190
    • Verlinsky, Y.1    Rechitsky, S.2    Verlinsky, O.3
  • 23
    • 0035181862 scopus 로고    scopus 로고
    • Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error
    • Lewis CM, Pinel T, Whittaker JC, Handyside AH. Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum Reprod 2001, 16:43-50.
    • (2001) Hum Reprod , vol.16 , pp. 43-50
    • Lewis, C.M.1    Pinel, T.2    Whittaker, J.C.3    Handyside, A.H.4
  • 24
    • 70350077906 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States
    • Oct 18, [Epub ahead of print]
    • Gutierrez-Mateo C, Sanchez-Garcia JF, Fischer J. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril 2008, Oct 18, [Epub ahead of print]
    • (2008) Fertil Steril
    • Gutierrez-Mateo, C.1    Sanchez-Garcia, J.F.2    Fischer, J.3
  • 25
  • 26
    • 40849137683 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy
    • Lietman SA, Goldfarb J, Desai N, Levine MA. Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. J Clin Endocrinol Metab 2008, 93:901-904.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 901-904
    • Lietman, S.A.1    Goldfarb, J.2    Desai, N.3    Levine, M.A.4
  • 27
    • 33746890193 scopus 로고    scopus 로고
    • Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa
    • Fassihi H, Renwick PJ, Black C, McGrath JA. Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. J Dermatol Sci 2006, 42:241-248.
    • (2006) J Dermatol Sci , vol.42 , pp. 241-248
    • Fassihi, H.1    Renwick, P.J.2    Black, C.3    McGrath, J.A.4
  • 28
    • 0033940736 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
    • Cserhalmi-Friedman PB, Tang Y, Adler A. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol 2000, 9:290-297.
    • (2000) Exp Dermatol , vol.9 , pp. 290-297
    • Cserhalmi-Friedman, P.B.1    Tang, Y.2    Adler, A.3
  • 29
    • 33644917428 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome
    • Fassihi H, Grace J, Lashwood A. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome. Br J Dermatol 2006, 154:546-550.
    • (2006) Br J Dermatol , vol.154 , pp. 546-550
    • Fassihi, H.1    Grace, J.2    Lashwood, A.3
  • 30
    • 0042427279 scopus 로고    scopus 로고
    • Probing the fetal genome: progress in non-invasive prenatal diagnosis
    • Uitto J, Pfendner E, Jackson LG. Probing the fetal genome: progress in non-invasive prenatal diagnosis. Trends Mol Med 2003, 9:339-343.
    • (2003) Trends Mol Med , vol.9 , pp. 339-343
    • Uitto, J.1    Pfendner, E.2    Jackson, L.G.3
  • 31
    • 0034864725 scopus 로고    scopus 로고
    • Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques
    • Krabchi K, Gros-Louis F, Yan J. Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques. Clin Genet 2001, 60:145-150.
    • (2001) Clin Genet , vol.60 , pp. 145-150
    • Krabchi, K.1    Gros-Louis, F.2    Yan, J.3
  • 32
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo YM, Corbetta N, Chamberlain PF. Presence of fetal DNA in maternal plasma and serum. Lancet 16 1997, 350:485-487.
    • (1997) Lancet 16 , vol.350 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 33
    • 0347898005 scopus 로고    scopus 로고
    • Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
    • Lo YM, Tein MS, Lau TK. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998, 62:768-775.
    • (1998) Am J Hum Genet , vol.62 , pp. 768-775
    • Lo, Y.M.1    Tein, M.S.2    Lau, T.K.3
  • 34
    • 1942487331 scopus 로고    scopus 로고
    • Circulating fetal DNA: its origin and diagnostic potential-a review
    • Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 2004, 25(Suppl. A):S93-S101.
    • (2004) Placenta , vol.25 , Issue.SUPPL. A
    • Bianchi, D.W.1
  • 35
    • 0035684463 scopus 로고    scopus 로고
    • First-trimester fetal sex determination in maternal serum using real-time PCR
    • Costa JM, Benachi A, Gautier E. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 2001, 21:1070-1074.
    • (2001) Prenat Diagn , vol.21 , pp. 1070-1074
    • Costa, J.M.1    Benachi, A.2    Gautier, E.3
  • 36
    • 29544450593 scopus 로고    scopus 로고
    • Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy
    • Hyett JA, Gardener G, Stojilkovic-Mikic T. Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. Prenat Diagn 2005, 25:1111-1116.
    • (2005) Prenat Diagn , vol.25 , pp. 1111-1116
    • Hyett, J.A.1    Gardener, G.2    Stojilkovic-Mikic, T.3
  • 37
    • 3242703837 scopus 로고    scopus 로고
    • MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
    • Ding C, Chiu RW, Lau TK. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci U S A 2004, 101:10762-10767.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 10762-10767
    • Ding, C.1    Chiu, R.W.2    Lau, T.K.3
  • 38
    • 41849144865 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis: current practice and future perspectives
    • Hahn S, Chitty LS. Noninvasive prenatal diagnosis: current practice and future perspectives. Curr Opin Obstet Gynecol 2008, 20:146-151.
    • (2008) Curr Opin Obstet Gynecol , vol.20 , pp. 146-151
    • Hahn, S.1    Chitty, L.S.2
  • 39
    • 39149109269 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis and determination of fetal Rh status
    • van der Schoot CE, Hahn S, Chitty LS. Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med 2008, 13:63-68.
    • (2008) Semin Fetal Neonatal Med , vol.13 , pp. 63-68
    • van der Schoot, C.E.1    Hahn, S.2    Chitty, L.S.3
  • 40
    • 42249108710 scopus 로고    scopus 로고
    • Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study
    • Finning K, Martin P, Summers J. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ 2008, 336:816-818.
    • (2008) BMJ , vol.336 , pp. 816-818
    • Finning, K.1    Martin, P.2    Summers, J.3
  • 42
    • 33846903851 scopus 로고    scopus 로고
    • Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
    • Lo YM, Tsui NB, Chiu RW. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007, 13:218-223.
    • (2007) Nat Med , vol.13 , pp. 218-223
    • Lo, Y.M.1    Tsui, N.B.2    Chiu, R.W.3
  • 43
    • 0842303612 scopus 로고    scopus 로고
    • Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis
    • Watanabe T, Fujimori K, Kato K. Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis. J Obstet Gynaecol Res 2003, 29:427-430.
    • (2003) J Obstet Gynaecol Res , vol.29 , pp. 427-430
    • Watanabe, T.1    Fujimori, K.2    Kato, K.3
  • 44
    • 0033995677 scopus 로고    scopus 로고
    • Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
    • Aviram-Goldring A, Goldman B, Netanelov-Shapira I. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000, 39:182-187.
    • (2000) Int J Dermatol , vol.39 , pp. 182-187
    • Aviram-Goldring, A.1    Goldman, B.2    Netanelov-Shapira, I.3
  • 45
    • 0038384014 scopus 로고    scopus 로고
    • Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions
    • Schoen E, Norem C, O'Keefe J. Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. Obstet Gynecol 2003, 102:167-172.
    • (2003) Obstet Gynecol , vol.102 , pp. 167-172
    • Schoen, E.1    Norem, C.2    O'Keefe, J.3
  • 46
    • 0031850052 scopus 로고    scopus 로고
    • Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes
    • Glass IA, Lam RC, Chang T. Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes. Prenat Diagn 1998, 18:789-800.
    • (1998) Prenat Diagn , vol.18 , pp. 789-800
    • Glass, I.A.1    Lam, R.C.2    Chang, T.3
  • 47
    • 0036308725 scopus 로고    scopus 로고
    • Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach
    • Bongain A, Benoit B, Ejnes L. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol 2002, 20:82-85.
    • (2002) Ultrasound Obstet Gynecol , vol.20 , pp. 82-85
    • Bongain, A.1    Benoit, B.2    Ejnes, L.3
  • 48
    • 0038462024 scopus 로고    scopus 로고
    • Three-dimensional sonographic findings in congenital (harlequin) ichthyosis
    • Vohra N, Rochelson B, Smith-Levitin M. Three-dimensional sonographic findings in congenital (harlequin) ichthyosis. J Ultrasound Med 2003, 22:737-739.
    • (2003) J Ultrasound Med , vol.22 , pp. 737-739
    • Vohra, N.1    Rochelson, B.2    Smith-Levitin, M.3
  • 49
    • 34347253003 scopus 로고    scopus 로고
    • Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound
    • Holden S, Ahuja S, Ogilvy-Stuart A. Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. Prenat Diagn 2007, 27:566-567.
    • (2007) Prenat Diagn , vol.27 , pp. 566-567
    • Holden, S.1    Ahuja, S.2    Ogilvy-Stuart, A.3
  • 50
    • 0037785200 scopus 로고    scopus 로고
    • Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography
    • Sepulveda W, Sandoval R, Carstens E. Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography. J Ultrasound Med 2003, 22:731-735.
    • (2003) J Ultrasound Med , vol.22 , pp. 731-735
    • Sepulveda, W.1    Sandoval, R.2    Carstens, E.3
  • 51
    • 0035076070 scopus 로고    scopus 로고
    • First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound
    • Dugoff L, Thieme G, Hobbins JC. First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. Ultrasound Obstet Gynecol 2001, 17:86-88.
    • (2001) Ultrasound Obstet Gynecol , vol.17 , pp. 86-88
    • Dugoff, L.1    Thieme, G.2    Hobbins, J.C.3
  • 52
    • 58849083307 scopus 로고    scopus 로고
    • PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings
    • Lee K, Williams B, Roza K. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet 2008, 75:190-4.
    • (2008) Clin Genet , vol.75 , pp. 190-194
    • Lee, K.1    Williams, B.2    Roza, K.3
  • 53
    • 48549098902 scopus 로고    scopus 로고
    • The pathogenesis and imaging of the tuberous sclerosis complex
    • Baskin HJ. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 2008, 38:936-952.
    • (2008) Pediatr Radiol , vol.38 , pp. 936-952
    • Baskin, H.J.1
  • 54
    • 0036209275 scopus 로고    scopus 로고
    • Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports
    • Pipitone S, Mongiovi M, Grillo R. Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports. Ital Heart J 2002, 3:48-52.
    • (2002) Ital Heart J , vol.3 , pp. 48-52
    • Pipitone, S.1    Mongiovi, M.2    Grillo, R.3
  • 55
    • 33749481462 scopus 로고    scopus 로고
    • Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis?
    • Jozwiak S, Kotulska K. Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis? Prenat Diagn 2006, 26:867-869.
    • (2006) Prenat Diagn , vol.26 , pp. 867-869
    • Jozwiak, S.1    Kotulska, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.