SCOPUS 정보 검색 플랫폼

American Journal of Medical Genetics

Volumn 111, Issue 3, 2002, Pages 324-327

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders [1]

(5) Splendore, Alessandra a Passos Bueno, Maria Rita a Jabs, Ethylin Wang b Van Maldergem, Lionel c Wulfsberg, Eric A d

a UNIVERSITY OF SÃO PAULO (Brazil)

b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE (United States)

c Ctr de Genet Humaine (Belgium)

d UNIVERSITY OF MARYLAND (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN TCOF1; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; PHOSPHOPROTEIN; TCOF1 PROTEIN, HUMAN;

AUTOSOMAL DOMINANT DISORDER; BRANCHIAL ARCH; CLINICAL FEATURE; DISEASE ASSOCIATION; GENE MUTATION; GOLDENHAR SYNDROME; HUMAN; LETTER; MANDIBULOFACIAL DYSOSTOSIS; MILLER DIEKER SYNDROME; NAGER ACROFACIAL DYSOSTOSIS; PHENOTYPE; PRIORITY JOURNAL; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; GENETICS;

ACRONICTA LEPORINA;

BRANCHIAL REGION; DIAGNOSIS, DIFFERENTIAL; GOLDENHAR SYNDROME; HUMANS; MANDIBULOFACIAL DYSOSTOSIS; NUCLEAR PROTEINS; PHOSPHOPROTEINS;

EID: 0037101865 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10567 Document Type: Letter

Times cited : (13)

References (11)

1
- 0030903167
- Identification of the complete coding sequence and genomic organization of the Treacher-Collins syndrome gene
- (1997) Genome Res , vol.7 , pp. 223-234
- Dixon, J.¹ Edwards, S.J.² Anderson, I.³ Brass, A.⁴ Scambler, P.J.⁵ Dixon, M.J.⁶

2
- 0003868876
- New York: Oxford University Press. 1344 p
- (2001) Syndromes of the head and neck 4th ed.
- Gorlin, R.J.¹ Cohen, M.M.² Hennekam, R.C.M.³

3
- 0003597161
- Philadelphia: Saunders. 861 p
- (1997) Smith's recognizable patterns of human malformation 5th ed.
- Jones, K.L.¹

4
- 0023243771
- Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: A possible genetic model for hemifacial microsomia
- (1987) J Craniofac Genet Dev Biol , vol.71 , pp. 27-44
- Juriloff, D.M.¹ Harris, M.J.² Froster-Iskenius, U.³

5
- 0009866513
- OMIM™. 154500 [10/31/2000]; 164210 [9/2/1998]; 154400 [5/12/1999]; 263750 [3/12/1994]. Baltimore, MD: Johns Hopkins University

6
- 0016728179
- The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis)
- (1975) Br J Oral Surg , vol.13 , pp. 1-26
- Poswillo, D.¹

7
- 0023988592
- Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly
- (1988) Am J Hum Genet , vol.29 , pp. 755-761
- Ryan, C.A.¹ Finer, N.N.² Ives, E.³

8
- 0033800213
- High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
- (2000) Hum Mutat , vol.16 , pp. 315-322
- Splendore, A.¹ Silva, E.O.² Alonso, L.G.³ Richieri-Costa, A.⁴ Alonso, N.⁵ Rosa, A.⁶ Carakushansky, G.⁷ Cavalcanti, D.P.⁸ Brunoni, D.⁹ Passos-Bueno, M.R.¹⁰

9
- 85056015693
- Screening of TCDF1 in patients from different populations: Confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
- in press
- J Med Genet
- Splendore, A.¹ Jabs, E.W.² Passos-Bveno, M.R.³

10
- 0023254245
- Mandibulofacial dysostosis (Treacher Collins syndrome): A new proposal for its pathogenesis
- (1987) Am J Med Genet , vol.27 , pp. 359-372
- Sulik, K.K.¹ Johnston, M.C.² Smiley, S.J.³ Speight, H.S.⁴ Jarvis, E.B.⁵

11
- 0030070052
- Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
- (1996) Nat Genet , vol.12 , pp. 130-136

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.