SCOPUS 정보 검색 플랫폼

Volumn 58, Issue 4, 1996, Pages 734-742

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

(12) Bartsch, Oliver b Wuyts, Wim b Van Hul, Wim a Hecht, Jacqueline T b Meinecke, Peter b Hogue, Debra b Werner, Walter b Zabel, Bernard b Hinkel, Georg K b Powell, Cynthia M b Shaffer, Lisa G b Willems, Patrick J b

a UNIVERSITY OF ANTWERP (Belgium)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CENTROMERE; CHILD; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CROUZON SYNDROME; FAMILY HISTORY; FEMALE; FORAMEN MAGNUM; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; SKULL RADIOGRAPHY; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL DYSOSTOSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; PARIETAL BONE; SYNDROME;

EID: 19144373472 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (80)

References (5)

1
- 0027366989
- Genetic heterogeneity in families with hereditary multiple exostoses
- Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, et al (1993) Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 53:71-79
- (1993) Am J Hum Genet , vol.53 , pp. 71-79
- Cook, A.¹ Raskind, W.² Blanton, S.H.³ Pauli, R.M.⁴ Gregg, R.G.⁵ Francomano, C.A.⁶ Puffenberger, E.⁷

2
- 0017096723
- Normal variants and congenital anomalies in the region of the obelion
- Currarino G (1976) Normal variants and congenital anomalies in the region of the obelion. Am J Radiol 127:487-494
- (1976) Am J Radiol , vol.127 , pp. 487-494
- Currarino, G.¹

3
- 19144370990
- Non-familial and non-hereditary craniofacial dysostosis: A variant of Crouzon's disease
- Dunn FH (1960) Non-familial and non-hereditary craniofacial dysostosis: a variant of Crouzon's disease. Am J Radiol 84:472-478
- (1960) Am J Radiol , vol.84 , pp. 472-478
- Dunn, F.H.¹

4
- 0028058986
- Human haploinsufficiency: One for sorrow, two for pain
- Fisher E, Scambler P (1994) Human haploinsufficiency: one for sorrow, two for pain. Nat Genet 7:5-7
- (1994) Nat Genet , vol.7 , pp. 5-7
- Fisher, E.¹ Scambler, P.²

5
- 0029047022
- Refinement of the multiple exostoses locus (EXT2) to a 3 cM interval on chromosome 11
- Wuyts W, Ramlakhan S, Van Hul W, Hecht JT, van den Ouweland AMW, Raskind WH, Hofstede FC, et al (1995) Refinement of the multiple exostoses locus (EXT2) to a 3 cM interval on chromosome 11. Am J Hum Genet 57:382-387
- (1995) Am J Hum Genet , vol.57 , pp. 382-387
- Wuyts, W.¹ Ramlakhan, S.² Van Hul, W.³ Hecht, J.T.⁴ Van Den Ouweland, A.M.W.⁵ Raskind, W.H.⁶ Hofstede, F.C.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.