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Journal of the American Academy of Dermatology

Volumn 58, Issue 4, 2008, Pages 653-656

DNA-based prenatal exclusion of harlequin ichthyosis

(8) Yanagi, Teruki a Akiyama, Masashi a Sakai, Kaori a Nagasaki, Akari a Ozawa, Nobuaki b Kosaki, Rika b Sago, Haruhiko b Shimizu, Hiroshi a

a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE (Japan)

b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; PROTEIN ABCA12; UNCLASSIFIED DRUG;

AMNION FLUID ANALYSIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; EXON; FETUS; GENE MUTATION; GENE SEQUENCE; GESTATION PERIOD; HARLEQUIN ICHTHYOSIS; HUMAN; HUMAN TISSUE; ICHTHYOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY;

EID: 40649091337 PISSN: 01909622 EISSN: None Source Type: Journal
DOI: 10.1016/j.jaad.2007.12.018 Document Type: Article

Times cited : (22)

References (10)

1
- 33746097414
- Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases
- M. Akiyama Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases Arch Dermatol 142 2006 914 918
- (2006) Arch Dermatol , vol.142 , pp. 914-918
- Akiyama, M.¹

2
- 0021103251
- Prenatal diagnosis of Harlequin fetus
- C. Blanchet-Bardon Y. Dumez F. Labbe M.A. Lutzner A. Puissant R. Henrion Prenatal diagnosis of Harlequin fetus Lancet 1 1983 132
- (1983) Lancet , vol.1 , pp. 132
- Blanchet-Bardon, C.¹ Dumez, Y.² Labbe, F.³ Lutzner, M.A.⁴ Puissant, A.⁵ Henrion, R.⁶

3
- 0025822408
- Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases
- K. Suzumori T. Kanzaki Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases Prenat Diagn 11 1991 451 457
- (1991) Prenat Diagn , vol.11 , pp. 451-457
- Suzumori, K.¹ Kanzaki, T.²

4
- 22144437692
- Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
- M. Akiyama Y. Sugiyama-Nakagiri K. Sakai J.R. McMillan M. Goto K. Arita Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer J Clin Invest 115 2005 1777 1784
- (2005) J Clin Invest , vol.115 , pp. 1777-1784
- Akiyama, M.¹ Sugiyama-Nakagiri, Y.² Sakai, K.³ McMillan, J.R.⁴ Goto, M.⁵ Arita, K.⁶

5
- 20244379129
- Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
- D.P. Kelsell E.E. Norgett H. Unsworth M.T. Teh T. Cullup C.A. Mein Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis Am J Hum Genet 76 2005 794 803
- (2005) Am J Hum Genet , vol.76 , pp. 794-803
- Kelsell, D.P.¹ Norgett, E.E.² Unsworth, H.³ Teh, M.T.⁴ Cullup, T.⁵ Mein, C.A.⁶

6
- 0037685258
- Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34
- T. Annilo S. Shulenin Z.Q. Chen I. Arnould C. Prades C. Lemoine Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34 Cytogenet Genome Res 98 2002 169 176
- (2002) Cytogenet Genome Res , vol.98 , pp. 169-176
- Annilo, T.¹ Shulenin, S.² Chen, Z.Q.³ Arnould, I.⁴ Prades, C.⁵ Lemoine, C.⁶

7
- 33847031771
- DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences
- M. Akiyama M. Titeux K. Sakai J.R. McMillan L. Tonasso P. Calvas DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences J Invest Dermatol 127 2007 568 573
- (2007) J Invest Dermatol , vol.127 , pp. 568-573
- Akiyama, M.¹ Titeux, M.² Sakai, K.³ McMillan, J.R.⁴ Tonasso, L.⁵ Calvas, P.⁶

8
- 10744220980
- Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
- C. Lefevre S. Audebert F. Jobard B. Bouadjar H. Lankhdar O. Boughdene-Stambouli Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 Hum Mol Genet 12 2003 2369 2378
- (2003) Hum Mol Genet , vol.12 , pp. 2369-2378
- Lefevre, C.¹ Audebert, S.² Jobard, F.³ Bouadjar, B.⁴ Lankhdar, H.⁵ Boughdene-Stambouli, O.⁶

9
- 33749854840
- A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
- M. Akiyama K. Sakai G. Wolff I. Hausser J.R. McMillan D. Sawamura A novel ABCA12 mutation 3270delT causes harlequin ichthyosis Br J Dermatol 5 2006 1064 1066
- (2006) Br J Dermatol , vol.5 , pp. 1064-1066
- Akiyama, M.¹ Sakai, K.² Wolff, G.³ Hausser, I.⁴ McMillan, J.R.⁵ Sawamura, D.⁶

10
- 33745217341
- Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity
- M. Akiyama K. Sakai Y. Sugiyama-Nakagiri Y. Yamanaka J.R. McMillan D. Sawamura Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity J Invest Dermatol 126 2006 1518 1523
- (2006) J Invest Dermatol , vol.126 , pp. 1518-1523
- Akiyama, M.¹ Sakai, K.² Sugiyama-Nakagiri, Y.³ Yamanaka, Y.⁴ McMillan, J.R.⁵ Sawamura, D.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.