SCOPUS 정보 검색 플랫폼

Annales de Dermatologie et de Venereologie

Volumn 129, Issue 6-7, 2002, Pages 892-895

Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation;Syndrome de Rothmund-Thomson, trisomie 8 en mosaïque et mutation du gène RECQ4

(6) Durand, F a Castorina, P b Morant, C a Delobel, B a Barouk, E a Modiano, P a

a UNIVERSITÉ CATHOLIQUE DE LILLE (France)

b UNIVERSITY OF MILAN (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE;

ADULT; ALOPECIA; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CORRELATION ANALYSIS; DNA REPAIR; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE; KERATOSIS; MALE; MOSAICISM; PHENOTYPE; POIKILODERMA; ROTHMUND THOMSON SYNDROME; SUN EXPOSURE; TRISOMY 8; VERRUCA VULGARIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AGE OF ONSET; CHROMOSOMES, HUMAN, PAIR 8; DIAGNOSIS, DIFFERENTIAL; DNA HELICASES; DNA REPAIR; GENOTYPE; HUMANS; KARYOTYPING; MALE; MOSAICISM; MUTATION; PHENOTYPE; RECQ HELICASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; ROTHMUND-THOMSON SYNDROME; TRISOMY;

EID: 17644434410 PISSN: 01519638 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (19)

References (15)

1
- 0026768449
- Rothmund-Thomson syndrome: Review of the world literature
- (1992) J Am Acad Dermatol , vol.27 , pp. 750-762
- Vennos, E.M.¹ Collins, M.² James, W.D.³

2
- 0025533545
- Poïkilodermie type Rothmund
- (1990) Ann Dermatol Venereol , vol.117 , pp. 794-796
- Michaud, V.¹ Picard, C.² Belaïch, S.³

3
- 0025553061
- Poïkilodermie type Thomson
- (1990) Ann Dermatol Venereol , vol.117 , pp. 796-798
- Larrègue, M.¹ Bieder, Ch.² Baudon, J.J.³ Voel, G.⁴ Lhuillier, N.⁵ El Wasi, S.⁶

4
- 0018842911
- Rothmund-Thomson syndrome with severe dwarfism
- (1980) Am J Dis Child , vol.134 , pp. 165-169
- Hall, J.G.¹ Pagon, R.A.² Wilson, K.M.³

5
- 0023269451
- Rothmund-Thomson syndrome. A case report, phototesting, and literature review
- (1987) J Am Acad Dermatol , vol.17 , pp. 332-338
- Berg, E.¹ Chuang, T.Y.² Cripps, D.³

6
- 0029134506
- Rothmund-Thomson syndrome and osteosarcoma
- (1995) Arch Pediatr , vol.2 , pp. 865-870
- Molina, M.I.¹ Santoloya, J.M.² Delgado, A.³ Garrote, M.I.⁴ Martinez, M.R.⁵ Indiano, J.M.⁶

7
- 0027742910
- Poïkilodermie congénitale type Thomson avec anomalie de I'excision-réparation de I'ADN
- (1993) Ann Dermatol Venereol , vol.120 , pp. 755-758
- Barrut, D.¹ Goujon-Henry, C.² Thomas, L.³ Vasseur, F.⁴ Moulin, G.⁵

8
- 0030006354
- Syndrome de Rothmund-Thomson avecanomalie d'excision-réparation de L'ADN
- (1996) Ann Dermatol Venereol , vol.123 , pp. 395-397
- Prache-de-Carrère, B.¹ Teillac-Hamel, D.² Capesius, C.³ Castelneau, J.P.⁴ Robert, C.⁵ Fraitag, S.⁶

9
- 34250507034
- D + G Trisomie bei einem patienten mit Rothmund syndrome
- (1967) Zeitschr Kinderheilk , vol.99 , pp. 1-13
- Koch, F.¹ Santamouris, C.² Ulbrich, F.³

10
- 0025215315
- Rothmund-Thomson syndrome associated with trisomy 8 mosaïcism
- (1990) J Med Genet , vol.27 , pp. 258-260
- Ying, K.L.¹ Oizumi, J.² Curry, C.J.R.³

11
- 9344253898
- Rothmund-Thomson syndrome in siblings: Evidence for aquired in vivo mosaïcism
- (1996) Clin Genet , vol.49 , pp. 124-129
- Lindor, N.M.¹ Devries, E.M.G.² Michels, V.V.³ Schad, C.R.⁴ Jalal, S.M.⁵ Donovan, K.M.⁶

12
- 0032939991
- Mutations in RECQL4 cause a subset of cases of Rothmund- Thomson syndrome
- (1999) Nat Genet , vol.22 , pp. 82-84
- Kitao, S.¹ Shimamoto, A.² Goto, M.³ Miller, R.W.⁴ Smithson, W.A.⁵ Lindor, N.M.⁶

13
- 0034737004
- Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparaisons with Bloom syndrome and Werner syndrome
- (2000) Am J Med Genet , vol.90 , pp. 223-228
- Lindor, N.M.¹ Furuichi, Y.² Kitao, S.³ Shimamoto, A.⁴ Arndt, C.⁵ Jalal, S.⁶

14
- 0034199243
- Syndrome de Rothmund-Thomson et déficit de la réparation de I'ADN par excision-resynthèse
- (2000) Ann Dermatol Venereol , vol.127 , pp. 660
- Bodak, N.¹ Bodemer, Ch.² Sarasin, A.³ Hamel-Teillac, D.⁴ Amoric, J.C.⁵ Pruszkowski, A.⁶

15
- 0034090124
- Update on familial cancer syndromes and the skin
- (2000) J Am Acad Dermatol , vol.42 , pp. 939-969
- Tsao, H.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.