Lin SP - Search Results

1

Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.

Chen CP, Lin SP, Chen M, Su YN, Chern SR, Wang TY, Liu YP, Tsai FJ, Lee CC, Chen YJ, Wang W. Chen CP, et al. Among authors: lin sp. Genet Couns. 2011;22(3):273-80. Genet Couns. 2011. PMID: 22029168

2

Distal 10q trisomy associated with bilateral hydronephrosis in infancy.

Chen CP, Lin SP. Chen CP, et al. Among authors: lin sp. Genet Couns. 2003;14(3):359-62. Genet Couns. 2003. PMID: 14577683

3

De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.

Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W, Liao YW. Chen CP, et al. Among authors: lin sp. Genet Couns. 2004;15(4):437-42. Genet Couns. 2004. PMID: 15658619

4

Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).

Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W. Chen CP, et al. Among authors: lin sp, lin cc. Genet Couns. 2006;17(1):57-63. Genet Couns. 2006. PMID: 16719278

5

Direct transmission of the 18q- syndrome from mother to daughter.

Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W. Chen CP, et al. Among authors: lin sp. Genet Couns. 2006;17(2):185-9. Genet Couns. 2006. PMID: 16970036

6

Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl.

Chen CP, Lin SP, Lee CC, Town DD, Wang W. Chen CP, et al. Among authors: lin sp. Genet Couns. 2006;17(3):301-6. Genet Couns. 2006. PMID: 17100198

7

An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature.

Wang CB, Lin SP, Chen CP, Chen YJ, Lee CC. Wang CB, et al. Among authors: lin sp. Genet Couns. 2006;17(4):435-40. Genet Couns. 2006. PMID: 17375530 Review.

8

A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.

Chen CP, Lin SP, Su YN, Chern SR, Tsai FJ, Wu PC, Chen LF, Wang W. Chen CP, et al. Among authors: lin sp. Genet Couns. 2011;22(3):255-61. Genet Couns. 2011. PMID: 22029166

9

Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome.

Chen CP, Lin SP, Lin DS, Liu YP, Hsu LJ, Wang W. Chen CP, et al. Among authors: lin sp, lin ds. Genet Couns. 2012;23(1):1-7. Genet Couns. 2012. PMID: 22611635

10

Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.

Chen CP, Lin SP, Suo YN, Chern SR, Su JW, Wang W. Chen CP, et al. Among authors: lin sp. Genet Couns. 2012;23(3):359-65. Genet Couns. 2012. PMID: 23072183

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