SCOPUS 정보 검색 플랫폼

Volumn 23, Issue 1, 2002, Pages 43-47

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid

(5) Kosaki, Kenjiro a Ogata, Tsutomu a Kosaki, Rika a Sato, Seiji a Matsuo, Nobutake a

a KEIO UNIVERSITY SCHOOL OF MEDICINE (Japan)

Author keywords

Blepharophimosis; FOXL2; Mutation; Polyalanine tract

Indexed keywords

ALANINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; DOWNWARD PALPEBRAL SLANT; EYE DEVELOPMENT; EYELID; EYELID RECONSTRUCTION; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; OVARY DEVELOPMENT; OVARY FUNCTION; PHENOTYPE; PRIORITY JOURNAL; TREATMENT OUTCOME; WILD TYPE;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHILD; CYTOSINE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; HYPERTELORISM; MUTATION; OVARY; PEDIGREE; PEPTIDES; POLYMERASE CHAIN REACTION; SYNDROME; TRANSCRIPTION FACTORS;

FALLOPIA; INSERTION SEQUENCES;

EID: 0036210317 PISSN: 13816810 EISSN: None Source Type: Journal
DOI: 10.1076/opge.23.1.43.2202 Document Type: Article

Times cited : (20)

References (8)

1
- 0020508397
- The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
- (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
- Zlotogora, J.¹ Sagi, M.² Cohen, T.³

2
- 0023634915
- Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype
- (1987) Am J Med Genet , vol.27 , pp. 781-786
- Alvarado, M.¹ Bocian, M.² Walker, A.P.³

3
- 0028926103
- Blepharophimosis syndrome is linked to chromosome 3q
- (1995) Hum Mol Genet , vol.4 , pp. 443-448
- Small, K.W.¹ Stalvey, M.² Fisher, L.³ Mullen, L.⁴ Dickel, C.⁵ Beadles, K.⁶ Reimer, R.⁷ Lessner, A.⁸ Lewis, K.⁹ Pericak-Vance, M.A.¹⁰

4
- 0035131812
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
- (2001) Nat Genet , vol.27 , pp. 159-166
- Crisponi, L.¹ Deiana, M.² Loi, A.³ Chiappe, F.⁴ Uda, M.⁵ Amati, P.⁶ Bisceglia, L.⁷ Zelante, L.⁸ Nagaraja, R.⁹ Porcu, S.¹⁰ Ristaldi, M.S.¹¹ Marzella, R.¹² Rocchi, M.¹³ Nicolino, M.¹⁴ Lienhardt-Roussie, A.¹⁵ Nivelon, A.¹⁶ Verloes, A.¹⁷ Schlessinger, D.¹⁸ Gasparini, P.¹⁹ Bonneau, D.²⁰ Cao, A.²¹ Pilia, G.²² more..

5
- 0342614209
- Unified nomenclature for the winged helix/forkhead transcription factors
- (2000) Genes Dev , vol.14 , pp. 142-146
- Kaestner, K.H.¹ Knochel, W.² Martinez, D.E.³

6
- 0033658369
- A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
- (2000) Am J Hum Genet , vol.67 , pp. 1555-1562
- Zonana, J.¹ Elder, M.E.² Schneider, L.C.³ Orlow, S.J.⁴ Moss, C.⁵ Golabi, M.⁶ Shapira, S.K.⁷ Farndon, P.A.⁸ Wara, D.W.⁹ Emmal, S.A.¹⁰ Ferguson, B.M.¹¹

7
- 0033752712
- Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
- (2000) Hum Mutat , vol.16 , pp. 377-385
- Ellard, S.¹

8
- 12644284524
- Synpolydactyly phenotypes correlate with size of expansions in HOXD 13 polyalanine tract
- (1997) Proc Natl Acad Sci USA , vol.94 , pp. 7458-7463
- Goodman, F.R.¹ Mundlos, S.² Muragaki, Y.³ Donnai, D.⁴ Giovannucci-Uzielli, M.L.⁵ Lapi, E.⁶ Majewski, F.⁷ McGaughran, J.⁸ McKeown, C.⁹ Reardon, W.¹⁰ Upton, J.¹¹ Winter, R.M.¹² Olsen, B.R.¹³ Scambler, P.J.¹⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.