Items for Author "Lin, Shuan-Pei"
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Showing 25 items.
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| [生物科技學系] 期刊論文 |
2018-10 |
Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay |
陳持平; Chen, Chih-Ping; Cha, Shu-Yuan; Chang, Shu-Yuan; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Che, Shin-Wen; Chen, Shin-Wen; La, Shih-Ting; Lai, Shih-Ting; Chua, Tzu-Yun; Chuang, Tzu-Yun; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2018-08 |
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Che, Shin-Wen; Chen, Shin-Wen; La, Shih-Ting; Lai, Shih-Ting; Chua, Tzu-Yun; Chuang, Tzu-Yun; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2018-08 |
A 17-year-old boy with Klinefelter syndrome presenting Marfan syndrome-like clinical features of tall stature, scoliosis, arachnodactyly and subluxation of bilateral elbow joints |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Che, Shin-Wen; Chen, Shin-Wen; La, Shih-Ting; Lai, Shih-Ting; Chua, Tzu-Yun; Chuang, Tzu-Yun; Chen, Li-Feng; Chen, Li-Feng; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2016-12 |
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22->q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder and in |
陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Ya, Chien-Wen; Yang, Chien-Wen; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2016-12 |
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12->q13.1::) associated with phenotypic abnormalities |
陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Lin, Yi-Hui; Lin, Yi-Hui; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Ya, Chien-Wen; Yang, Chien-Wen; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2016-10 |
Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome |
陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Lee, Chen-Chi; Lee, Chen-Chi; Town, Dai-Dyi; Town, Dai-Dyi; Ya, Chien-Wen; Yang, Chien-Wen; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2014-03 |
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2014-03 |
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes |
陳持平; Chen, Chih-Ping; Wang, Pu-Tsui; Wang, Pu-Tsui; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Chen, Yu-Ting; Chen, Yu-Ting; Wu, Peih-Shan; Wu, Peih-Shan; Kuo, Yu-Ling; Kuo, Yu-Ling; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2014-02 |
Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Kuo, Yu-Ling; Kuo, Yu-Ling; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yu-Ting; Chen, Yu-Ting; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
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An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Liu, Yu-Peng; Liu, Yu-Peng; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Chen, Yu-Ting; Chen, Yu-Ting; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2013-10 |
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Liu, Yu-Peng; Liu, Yu-Peng; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Chen, Yu-Ting; Chen, Yu-Ting; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2013-07 |
6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay and poor wound healing |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Liu, Yu-Peng; Liu, Yu-Peng; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yu-Ting; Chen, Yu-Ting; Su, Jun-Wei; Su, Jun-Wei; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2013-06 |
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2013-03 |
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Su, Yi-Ning; Su, Yi-Ning; Ch, Schu-Rern; Chern, Schu-Rern; Su, Jun-Wei; Su, Jun-Wei; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2013-03 |
Prenatal diagnosis of and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3->q23.3) associated with abnormal maternal serum biochemistry |
陳持平; Chen, Chih-Ping; Su, Yi-Ning; Su, Yi-Ning; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Su, Jun-Wei; Su, Jun-Wei; Chen, Yu-Ting; Chen, Yu-Ting; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2013-03 |
Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism |
陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Su, Yi-Ning; Su, Yi-Ning; Ch, Schu-Rern; Chern, Schu-Rern; Su, Jun-Wei; Su, Jun-Wei; Wang, Wayseen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-12 |
A 5.3-Mb duplication of 9p12->p13.1 characterized by array CGH in a female infant with developmental delay |
陳持平; Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Tsai, Fuu-Jen; Lee, Chen-Chi; Pan, Chen-Wen; Wu, Pei-Chen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-09 |
A de novo 7.9 Mb deletion in 22q13.2->qter in a boy with autistic features, epilepsy, developmental delay atopic dermatitis and abnormal immunological findings |
陳持平; Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Tsai, Fuu-Jen; Wu, Pei-Chen; Lee, Chen-Chi; Chen, Yu-Ting; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-09 |
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization |
陳持平; Chen, Chih-Ping; Guo, Yung-Ting; Lin, Shuan-Pei; Su, Yi-Ning; Chen, Yann-Jang; Hseuh, Rui-Yuan; Lin, Yi-Hui; Wu, Pei-Chen; Lee, Chen-Chi; Chen, Yu-Ting; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-09 |
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses |
陳持平; Chen, Chih-Ping; Su, Yi-Ning; Chern, Schu-Rern; Hwu, Yu-Ming; Lin, Shuan-Pei; Hsu, Chyong-Hsin; Tsai, Fuu-Jen; Wang, Tao-Yeuan; Wu, Pei-Chen; Lee, Chen-Chi; Chen, Yu-Ting; Chen, Li-Feng; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-07 |
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2->q24.3 in a girl with autistic features and developmental delay |
陳持平; Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Chen, Yann-Jang; Tsai, Fuu-Jen; Wu, Pei-Chen; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-06 |
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux presenting polyhydramnios in the third trimester |
陳持平; Chen, Chih-Ping; Lin, Shuan-Pei; Su, Yi-Ning; Chen, Chen-Yu; Tsai, Fuu-Jen; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Pei-Chen; Chen, Hsaio-En Cindy; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-06 |
Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features |
陳持平; Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Tsai, Fuu-Jen; Wu, Pei-Chen; Lee, Chen-Chi; Chen, Li-Feng; Lee, Meng-Shan; Wang, Wayseen |
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| [生物科技學系] 期刊論文 |
2010-02 |
Prenatal diagnosis of X-linked myotubular myopathy |
陳持平; Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Tsai, Fuu-Jen; Wang, Tao-Yeuan; Lin, Hung-Hung; Wang, Wayseen |
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| [生物資訊與醫學工程學系 ] 期刊論文 |
2016-12 |
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability |
陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Ya, Chien-Wen; Yang, Chien-Wen; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen |
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