SCOPUS 정보 검색 플랫폼

Volumn 58, Issue 3, 1996, Pages 491-498

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

(12) Meyers, Gregory A a Day, Donald b Goldberg, Rosalie c Daentl, Donna L d Przylepa, Kelly A a Abrams, Liane J e Graham Jr , John M f Feingold, Murray g Moeschler, John B h Rawnsley, Eileen h Scott, Alan F a Jabs, Ethylin Wang a

a JOHNS HOPKINS HOSPITAL (United States)

b Genetic Screening Counseling Serv (United Kingdom)

c MONTEFIORE MEDICAL CENTER (United States)

d Shriners Hosp for Crippled Children (United States)

e CHILDREN S HOSPITAL OAKLAND (United States)

f UNIVERSITY OF CALIFORNIA (United States)

g National Birth Defects Center (United States)

h DARTMOUTH HITCHCOCK MEDICAL CENTER (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DELETION MUTANT; FOOT MALFORMATION; GENETIC VARIABILITY; HUMAN; JACKSON WEISS SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL;

ACROCEPHALOSYNDACTYLIA; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEQUENCE DELETION; SYNDROME;

EID: 0029671080 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (157)

References (5)

1
- 0003671450
- Raven, New York
- Cohen MM Jr (ed) (1986) Craniosynostosis: diagnosis, evaluation, and management. Raven, New York
- (1986) Craniosynostosis: Diagnosis, Evaluation, and Management
- Cohen Jr., M.M.¹

2
- 0029089845
- Crouzon syndrome: Mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome
- Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, et al (1995) Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Hum Mol Genet 4:1387-1390
- (1995) Hum Mol Genet , vol.4 , pp. 1387-1390
- Gorry, M.C.¹ Preston, R.A.² White, G.J.³ Zhang, Y.⁴ Singhal, V.K.⁵ Losken, H.W.⁶ Parker, M.G.⁷

3
- 0028113931
- Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
- Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, et al (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 8:275-279
- (1994) Nat Genet , vol.8 , pp. 275-279
- Jabs, E.W.¹ Li, X.² Scott, A.F.³ Meyers, G.⁴ Chen, W.⁵ Eccles, M.⁶ Mao, J.⁷

4
- 84886621421
- Craniosynostosis, midface hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred
- Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA (1976) Craniosynostosis, midface hypoplasia, and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr 88:963-968
- (1976) J Pediatr , vol.88 , pp. 963-968
- Jackson, C.E.¹ Weiss, L.² Reynolds, W.A.³ Forman, T.F.⁴ Peterson, J.A.⁵

5
- 0029242747
- FGFR2 mutations in Pfeiffer syndrome
- Lajeunie E, Ma HW, Bonaventure J, Munnich A, Merrer ML (1995) FGFR2 mutations in Pfeiffer syndrome. Nat Genet. 9:108
- (1995) Nat Genet. , vol.9 , pp. 108
- Lajeunie, E.¹ Ma, H.W.² Bonaventure, J.³ Munnich, A.⁴ Merrer, M.L.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.