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American Journal of Medical Genetics

Volumn 100, Issue 4, 2001, Pages 333-335

Reply to the letter to the editor by Wuyts et al. - "Burning down DEFECT11" [2]

(1) Shaffer, Lisa G a

a BAYLOR COLLEGE OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME DISORDER; CROUZON SYNDROME; EXOSTOSIS; GENE DELETION; GENETIC DISORDER; LETTER; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035873857 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20010515)100:4<333::AID-AJMG1272>3.0.CO;2-I Document Type: Letter

Times cited : (4)

References (22)

1
- 19144373472
- 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
- (1996) Am J Hum Genet , vol.58 , pp. 734-742
- Bartsch, O.¹ Wuyts, W.² Van Hul, W.³ Hecht, J.T.⁴ Meinecke, P.⁵ Hogue, D.⁶ Werner, W.⁷ Zabel, B.⁸ Hinkel, G.K.⁹ Powell, D.M.¹⁰ Shaffer, L.G.¹¹ Willems, P.J.¹²

2
- 0017068102
- Syndrome designations
- (1976) J Med Genet , vol.13 , pp. 266-270
- Cohen, M.M.¹

3
- 0017762415
- Gene dose effect: Intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p
- (1977) Cytogenet Cell Genet , vol.19 , pp. 197-207
- Francke, U.¹ George, D.L.² Brown, M.G.³ Riccardi, V.M.⁴

4
- 0005042377
- The medical eponym
- (1960) Am Sci , pp. 51-57
- Gall, E.A.¹

5
- 0003868876
- New York: Oxford University Press
- (2001) Syndromes of the head and neck. 4th ed
- Gorlin, R.J.¹ Cohen, M.M.² Levin, L.S.³

6
- 0025775261
- Syndrome: Le mot de jour
- (1991) Am J Med Genet , vol.39 , pp. 342-346
- Jablonski, S.¹

7
- 0032539492
- Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome
- (1998) Am J Med Genet , vol.75 , pp. 538-540
- Ligon, A.H.¹ Potocki, L.² Shaffer, L.G.³ Stickens, D.⁴ Evans, G.A.⁵

8
- 0025341229
- An unusual type of acrocephalosyndactyly with bilaterial parietooccipital "encephalocele", micropenis, and severe mental retardation
- (1990) Am J Med Genet , vol.36 , pp. 265-268
- Lorenz, P.¹ Rupprecht, E.² Tellkamp, H.³

9
- 0035158663
- Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
- (2001) Nat Genet , vol.27 , pp. 17-18
- Mavrogiannis, L.A.¹ Antonopoulou, I.² Baxova, A.³ Kutílek, S.⁴ Kim, C.A.⁵ Sugayama, S.M.⁶ Salamanca, A.⁷ Wall, S.A.⁸ Morris-Kay, G.M.⁹ Wilkie, A.O.M.¹⁰

10
- 0029087464
- WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
- (1995) J Med Genet , vol.32 , pp. 823-824
- McGaughran, J.M.¹ Ward, H.B.² Evans, D.G.R.³

11
- 0031886397
- On the naming of clinical disorders, with particular reference to eponyms
- (1998) Medicine , vol.77 , pp. 1-2
- McKusick, V.A.¹

12
- 0029878404
- Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)
- (1996) Am J Med Genet , vol.62 , pp. 319-325
- Potocki, L.¹ Shaffer, L.G.²

13
- 0027394225
- Familial interstitial deletion 11(p11.2p12) associated with parietal foramina, brachymicrocephaly, and mental retardation
- (1993) Am J Med Genet , vol.45 , pp. 581-583
- Shaffer, L.G.¹ Hecht, J.T.² Ledbetter, D.H.³ Greenberg, F.⁴

14
- 0005023070
- Romeo and Juliet. Act II, scene II
- (1595)
- Shakespeare, W.¹

15
- 0004996532
- Hamlet. Act III, scene I
- (1603)
- Shakespeare, W.¹

16
- 0029764629
- The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
- (1996) Nat Genet , vol.14 , pp. 25-32
- Stickens, D.¹ Clines, G.² Burbee, D.³ Ramos, P.⁴ Thomas, S.⁵ Hogue, D.⁶ Hecht, J.T.⁷ Lovett, M.⁸ Evans, G.A.⁹

17
- 0028047748
- Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
- (1994) Hum Mol Genet , vol.3 , pp. 167-171
- Wu, Y.Q.¹ Heutink, P.² De Vries, B.B.A.³ Sandkuijl, L.A.⁴ Van den Ouweland, A.M.W.⁵ Niermeijer, M.F.⁶ Galjaard, H.⁷ Reyniers, E.⁸ Willems, P.J.⁹ Halley, D.J.J.¹⁰

18
- 0033759656
- Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
- (2000) Am J Hum Genet , vol.67 , pp. 1327-1332
- Wu, Y.Q.¹ Badano, J.L.² McCaskill, C.³ Vogel, H.⁴ Potocki, L.⁵ Shaffer, L.G.⁶

19
- 10144253124
- Positional clening of a gene involved in hereditary multiple exosteses
- (1996) Hum Mol Genet , vol.5 , pp. 1547-1557
- Wuyts, W.¹ Van Hul, W.² Wauters, J.³ Nemtsova, M.⁴ Reyniers, E.⁵ Van Hul, E.⁶ De Boulle, K.⁷ De Vries, B.B.A.⁸ Hendrickx, J.⁹ Herrygers, I.¹⁰ Bossuyt, P.¹¹ Balemans, W.¹² Fransen, E.¹³ Vits, L.¹⁴ Coucke, P.¹⁵ Nowak, N.J.¹⁶ Shows, T.B.¹⁷ Mallet, L.¹⁸ Van den Ouweland, A.M.W.¹⁹ McGaughran, J.²⁰ Halley, D.J.J.²¹ Willems, P.J.²² more..

20
- 0032787808
- Molecular and clinical examination of an Italian DEFECT 11 family
- (1999) Eur J Hum Genet , vol.7 , pp. 579-584
- Wuyts, W.¹ Di Gennaro² Blanco, F.³ Wauters, J.⁴ Morocutti, C.⁵ Pierelli, F.⁶ Bossuyt, P.⁷ Van Hul, W.⁸ Casali, C.⁹

21
- 0034530307
- The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)
- (2000) J Med Genet , vol.37 , pp. 916-920
- Wuyts, W.¹ Cleiren, E.² Homfray, T.³ Rosore-Quartino, A.⁴ Vanhoenacker, F.⁵ Van Hul, W.⁶

22
- 0005032629
- Burning down DEFECT 11
- (2001) Am J Med Genet , pp. 100
- Wuyts, W.¹ Bartsch, O.² Wilkie, A.O.M.³ Meinecke, P.⁴ Van Hul, W.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.