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Chinese Journal of Medical Genetics

Volumn 28, Issue 6, 2011, Pages 601-605

Synpolydactyly in a Chinese kindred: Mutation detection, prenatal ultrasonographic and molecular diagnosis

(6) Jin, Hua a,b Lin, Peng Fei a Wang, Qi Mei a Mao, Fei a Cai, Yan b Gong, Yao Qin a

a SHANDONG UNIVERSITY SCHOOL OF MEDICINE (China)

b JINAN MATERNITY AND CHILD CARE HOSPITAL (China)

Author keywords

HOXD13 gene; Linkage analysis; Mutation detection; Prenatal diagnosis; Synpolydactyly

Indexed keywords

ALANINE; HOX PROTEIN; HOXD13 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMNIOCENTESIS; AMNION FLUID; ARTICLE; CHINESE; CHROMOSOME MAP; DIAGNOSTIC ACCURACY; FAMILY; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GESTATIONAL AGE; HETEROZYGOSITY; HUMAN; LINKAGE ANALYSIS; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; POLYDACTYLY; PRENATAL DIAGNOSIS; SHORT TANDEM REPEAT; SYNDACTYLY; SYNPOLYDACTYLY;

ADOLESCENT; ADULT; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; GENETIC LINKAGE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PREGNANCY; SYNDACTYLY; TOES; TRANSCRIPTION FACTORS; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 84855292927 PISSN: 10039406 EISSN: None Source Type: Journal
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.001 Document Type: Article

Times cited : (6)

References (8)

1
- 0022512187
- Type II syndactyly or synpolydactyly
- Merlob P, Grunebaum M. Type II syndactyly or synpolydactyly. J Med Genet, 1986,23:237-241. (Pubitemid 16077084)
- (1986) Journal of Medical Genetics , vol.23 , Issue.3 , pp. 237-241
- Merlob, P.¹ Grunebaum, M.²

2
- 12644284524
- Synpolydactyly phenotypes correlate with size of expansions in hoxd13 polyalanine tract
- DOI 10.1073/pnas.94.14.7458
- Goodman FR, Mundlos S, Muragaki Y, et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A, 1997,94:7458-7463. (Pubitemid 27345337)
- (1997) Proceedings of the National Academy of Sciences of the United States of America , vol.94 , Issue.14 , pp. 7458-7463
- Goodman, F.R.¹ Mundlos, S.² Muragaki, Y.³ Donnai, D.⁴ Giovannucci-Uzielli, M.L.⁵ Lapi, E.⁶ Majewski, F.⁷ Mcgaughran, J.⁸ Mckeown, C.⁹ Reardon, W.¹⁰ Upton, J.¹¹ Winter, R.M.¹² Olsen, B.R.¹³ Scambler, P.J.¹⁴

3
- 33846641577
- Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
- DOI 10.1086/511387
- Zhao X, Sun M, Zhao J, et al. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet, 2007,80:361-371. (Pubitemid 46175684)
- (2007) American Journal of Human Genetics , vol.80 , Issue.2 , pp. 361-371
- Zhao, X.¹ Sun, M.² Zhao, J.³ Leyva, J.A.⁴ Zhu, H.⁵ Yang, W.⁶ Zeng, X.⁷ Ao, Y.⁸ Liu, Q.⁹ Liu, G.¹⁰ Lo, W.H.Y.¹¹ Jabs, E.W.¹² Amzel, L.M.¹³ Shan, X.¹⁴ Zhang, X.¹⁵

4
- 0037383834
- Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
- DOI 10.1086/374721
- Johnson D, Kan SH, Oldridge M, et al. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet, 2003,72:984-997. (Pubitemid 36403316)
- (2003) American Journal of Human Genetics , vol.72 , Issue.4 , pp. 984-997
- Johnson, D.¹ Kan, S.-H.² Oldridge, M.³ Trembath, R.C.⁴ Roche, P.⁵ Esnouf, R.M.⁶ Giele, H.⁷ Wilkie, A.O.M.⁸

5
- 0012800807
- An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
- DOI 10.1242/dev.00396
- Caronia G, Goodman FR, McKeown CM, et al. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development, 2003,130:1701-1712. (Pubitemid 36527528)
- (2003) Development , vol.130 , Issue.8 , pp. 1701-1712
- Caronia, G.¹ Goodman, F.R.² McKeown, C.M.E.³ Scambler, P.J.⁴ Zappavigna, V.⁵

6
- 13544276985
- HOXD13 polyalanine tract expansion in synpolydactyly: Mutation detection and prenatal diagnosis in a large Chinese family
- Zhao XL, Meng JP, Sun M, et al. HOXD13 polyalanine tract expansion in 127 synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese 128 family. Chin J Med Genet, 2005,22:5-9. (Pubitemid 40222997)
- (2005) Chinese Journal of Medical Genetics , vol.22 , Issue.1 , pp. 5-9
- Zhao, X.-L.¹ Meng, J.-P.² Sun, M.³ Ao, Y.⁴ Wu, A.-H.⁵ Lo, W.H.Y.⁶ Zhang, X.⁷

7
- 20644440620
- Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly
- Dai L, Heng ZC, Zhu J, et al. Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. Chin J Med Genet, 2005,22:277-280.
- (2005) Chin J Med Genet , vol.22 , pp. 277-280
- Dai, L.¹ Heng, Z.C.² Zhu, J.³

8
- 0031015410
- Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
- Warren ST. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science, 1997,275:408-409.
- (1997) Science , vol.275 , pp. 408-409
- Warren, S.T.¹

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