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Pediatrics International

Volumn 44, Issue 3, 2002, Pages 328-329

Pericentric inversion inv(2) (p11.2q21) associated with Treacher Collins-Franceschetti syndrome

(6) Sawada, Hiroshi a Kawashima, Yuki a Yamamoto, Yuko a Egi, Toru b Nagata, Ikuo c Kanzaki, Susumu c

a Hamada Medical Center (Japan)

b Egi Obstetric and Gynecologic Clinic (Japan)

c TOTTORI UNIVERSITY (Japan)

Author keywords

Chromosome 2; Mandibulofacial dysostosis; Pericentric inversion; Treacher Collins Franceschetti syndrome

Indexed keywords

AGE; ARTICLE; CASE REPORT; CHROMOSOME 2; CHROMOSOME ANALYSIS; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FACE DYSMORPHIA; FAMILY; FAMILY HISTORY; FEMALE; HEARING LOSS; HUMAN; INFANT; JAPAN; KARYOTYPE; MANDIBULOFACIAL DYSOSTOSIS; MENTAL DEFICIENCY; MOTOR RETARDATION; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; RACE; SIBLING; VAGINAL DELIVERY;

CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HUMANS; INFANT; INVERSION, CHROMOSOME; KARYOTYPING; MANDIBULOFACIAL DYSOSTOSIS;

EID: 0036318574 PISSN: 13288067 EISSN: None Source Type: Journal
DOI: 10.1046/j.1442-200X.2002.01546.x Document Type: Article

Times cited : (1)

References (9)

1
- 0030070052
- Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
- (1996) Nat. Genet. , vol.12 , pp. 130-136

2
- 0029814274
- Treacher Collins syndrome
- (1996) Hum. Mol. Genet. , vol.5 , pp. 1391-1396
- Dixon, M.J.¹

3
- 0020679518
- Franceshetti syndrome in a child with a de novo balanced translocation (5; 13 (q11; p11) and significant decrease of hexosaminidase B
- (1983) Hum. Genet. , vol.64 , pp. 305-308
- Balestrazzi, P.¹ Baeteman, M.A.² Mattei, M.G.³ Mattei, J.F.⁴

4
- 0025963067
- Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: Exclusion of the locus from these candidate regions
- (1991) Am. J. Hum. Genet. , vol.48 , pp. 274-280
- Dixon, M.J.¹ Haan, E.² Baker, E.³

5
- 0025918135
- Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region
- (1993) Genomics , vol.11 , pp. 188-192
- Jabs, E.W.¹ Coss, C.A.² Hayflick, S.J.³

6
- 0027254370
- Mild mandibulofacial dysostosis in a child with a deletion of 3p
- (1993) Am. J. Med. Genet. , vol.46 , pp. 534-536
- Arn, P.H.¹ Mankinen, C.² Jabs, E.W.³

7
- 0022648180
- The significance of pericentric inversions of chromosome 2
- (1986) Hum. Genet. , vol.72 , pp. 32-36
- Djalali, M.¹ Steinbach, P.² Bullerdiek, J.³ Holmes-Siedle, M.⁴ Verschraegen-Spae, M.R.⁵ Smith, A.⁶

8
- 0029991502
- Prenatal detection of de novo inversion of chromosome (2) (p13q11.2) and postnatal follow-up
- (1996) Prenat. Diagn. , vol.16 , pp. 366-370
- Kozma, C.¹ Subasinghe, C.² Meck, J.³

9
- 0025941775
- De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
- (1991) Am. J. Hum. Genet. , vol.49 , pp. 995-1013
- Warburton, D.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.