| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly |
Chih-Ping Chen; Shuan-Pei Lin; Ming-Ren Chen; Jun-Wei Su; Schu-Rern Chern; Yen-Jiun Chen; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jian-Pei Huang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-10-01 |
Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review |
Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Tzu-Hao Wang; Schu-Rern Chern; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-06-01 |
Transient abnormal myelopoiesis of mosaic trisomy 21 presenting fetoplacental cytogenetic discrepancy, hepatosplenomegaly, oligohydramnios and abnormal hematological findings |
Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Hung-Hung Lin; Schu-Rern Chern; Chih-Kuang Chuang; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2007-09-01 |
Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1 |
Wei-De Lin; Shuan-Pei Lin; Chih-Ping Chen; Fuu-Jen Tsai |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
A 24.2-Mb deletion of 4q12→q21.21 characterized by array CGH in a 13½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Li-Feng Chen; Wayseen Wang |
 |
| [生物醫學研究所] 期刊論文 |
2008-07-01 |
A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-01-01 |
The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese children. |
Fu-Yuan Huang; Tzu-Yang Chang; Ming-Ren Chen; Hung-Chang Lee; Nan-Chang Chiu; Hsin Chi; Chyong-Hsin Hsu; Shuan-Pei Lin; Hsin-Fu Liu; Wei-Fang Chen; Chen-Chung Chu; Marie Lin; Yann-Jinn Lee |
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| [聽力暨語言治療學系] 期刊論文 |
2014-04-01 |
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses |
Hsiang-Yu Lin; Shou-Chuan Shih; Chih-Kuang Chuang; Kuo-Sheng Lee; Ming-Ren Chen; Hung-Ching Lin; Pao Chin Chiu; Dau-Ming Niu; Shuan-Pei Lin |
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| [聽力暨語言治療學系] 期刊論文 |
2011-06-01 |
Other impairment associated with developmental language delay in preschool-aged children |
Yao-Chia Chuang; Chia-Yu Hsu; Nan-Chang Chiu; Shuan-Pei Lin; Ruu-Fen Tzang; Cheng-Chien Yang |
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| [醫學系] 期刊論文 |
2002-01-01 |
Bilateral calcified ovarian fibromas in a patient with Sotos syndrome |
Chih-Ping Chen; Yuh-Cheng Yang; Shuan-Pei Lin; Wayseen Wang; Chih-Long Chang; Kuo-Ming Chang |
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| [醫學系] 期刊論文 |
2002-01-01 |
Airway changes in children with mucopolysaccharidoses: CT evaluation |
Shin-Lin Shih; Yann-Jinn Lee; Shuan-Pei Lin; Chin-Yin Sheu; Johan G. Blickman |
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| [醫學系] 期刊論文 |
1999-02-01 |
Congenital nasal pyriform aperture stenosis: A diagnostic clue to solitary maxillary central incisor prior to eruption in three infants |
Fu-Sung Lo; Kuo-Sheng Lee; Lih-Sheng Chen; Han-Yang Hung; Chyong-Hsin Hsu; Shuan-Pei Lin; Yann-Jinn Lee |
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| [醫學系] 期刊論文 |
2007-06-01 |
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan |
Hsiang-Yu Lin; Shuan-Pei Lin; Chih-Kuang Chuang; Ming-Ren Chen; Jui-Lung Yen; Yann-Jinn Lee; Chi-Yu Huang; Li-Ping Tsai; Dau-Ming Niu; Mei-Chyn Chao; Pao-Lin Kuo |
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| [生物醫學研究所] 期刊論文 |
2003-06-01 |
Percutaneous endoscopic gastrostomy in children: 15 cases experience |
Ting-Chi Yeh; Chun Yan Yeung; Jin-Cherng Sheu; Hung-Chang Lee; Shuan-Pei Lin; Chyong-Hsin Hsu; Yann-Jinn Lee; Nan-Chang Chiu; Che-Sheng Ho |
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| [生物醫學研究所] 期刊論文 |
2007-03-01 |
Prader-Willi syndrome in Taiwan |
Hsiang-Yu Lin; Shuan-Pei Lin; Jui-Lung Yen; Yann-Jinn Lee; Chi-Yu Huang; Han-Yang Hung; Chyong-Hsin Hsu; Hsin-An Kao; Jui-Hsing Chang; Nan-Chang Chiu; Che-Sheng Ho; Mei-Chyn Chao; Dan-Ming Niu; Li-Ping Tsai; Pao-Lin Kuo |
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| [醫學系] 期刊論文 |
2009-12-01 |
Lafora disease and congenital generalized lipodystrophy: a case report |
Chih-Fan Tseng; Che-Sheng Ho; Nan-Chang Chiu; Shuan-Pei Lin; Chi-Yuan Tzen; Yu-Hung Wu |
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| [醫學系] 期刊論文 |
2011-05-01 |
Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome |
Chih-Wei Hsieh; Yu-Hung Wu; Shuan-Pei Lin; Chun-Chih Peng; Che-Sheng Ho |
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| [生物醫學研究所] 期刊論文 |
2010-12-01 |
A 5.3-Mb duplication of 9p12→p13.1 characterized by array CGH in a female infant with developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai,; Chen-Chi Lee; Chen-Wen Pan; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-11-01 |
A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Peih-Shan Wu; Shuenn-Dyh Chang; Shu-Hang Ng; Yu-Peng Liu; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-09-01 |
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 |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder |
Chih-Ping Chen; Shuan-Pei Lin; Jun-Wei Su; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2007-12-01 |
Abnormal prenatal hematological findings in congenital leukemia of Down syndrome with hepatosplenomegaly |
Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Hsin-Tsung Ho |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux including polyhydramnios in the third trimester |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Chen-Yu Chen; Fuu-Jen Tsai; Yu-Peng Liu; Schu-Rern Chern; Pei-Chen Wu; Hsaio-En Cindy Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-07-01 |
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 |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Yann-Jang Chen; Fuu-Jen Tsai; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome |
Chih-Ping Chen; Shuan-Pei Lin; Dar-Shong Lin; Yu-Peng Liu; Lee James Hsu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-03-01 |
Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome |
Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Pei-Chen Wu; Chen-Chi Lee; Meng-Shan Lee; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-06-01 |
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Shu-Chin Chien; Fuu-Jen Tsai; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-12-01 |
De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Yuan-Ling Huang; Schu-Rern Chern; Yu-Peng Liu; Jun-Wei Su; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Deletion 2q37.3→qter and duplication 15q24.3→qter characterized by array CGH in a girl with epilepsy and dysmorphic features |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Li-Feng Chen; Meng-Shan Lee; Wayseen Wang. |
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| [生物醫學研究所] 期刊論文 |
2011-06-01 |
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings |
Chih-Ping Chen; Shuan-Pei Lin; Yu-Peng Liu; Jeng-Daw Tsai; Chen-Yu Chen; Shin-Lin Shih,; Fuu-Jen Tsai; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-08-01 |
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients |
Wei-De Lin; Shuan-Pei Lin; Chung-Hsing Wang; Wuh-Liang Hwu; Chih-Kuang Chuang; Shio-Jean Lin; Yushin Tsai; Chih-Ping Chen; Fuu-Jen Tsai. |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-06-01 |
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation |
Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-05-01 |
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene |
Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Chih-Ping Chen; Shuan-Pei Lin; Mei-Chyn Chao; Shyh-Shin Chiou; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and dsomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization |
Chih-Ping Chen; Yung-Ting Guo; Shuan-Pei Lin; Yi-Ning Su; Yann-Jang Chen; Rui-Yuan Hseuh; Yi-Hui Lin; Pei-Chen Wu; Chen-Chi Lee,; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses |
Chih-Ping Chen; Shuan-Pei Lin; Ming Chen; Yi-Ning Su; Schu-Rern Chern,; Tao-Yeuan Wang; Yu-Peng Liu; Fuu-Jen Tsai; Chen-Chi Lee; Yen-Jiun Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ming Hwu; Shuan-Pei Lin; Chyong-Hsin Hsu; Fuu-Jen Tsai; Tao-Yeuan Wang; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Li-Feng Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2009-11-01 |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome |
Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Hui-Yu Cheng; Shuan-Pei Lin; Ming-Ren Chen; Chih-Ping Chen; Chien-Hui Chang; Chiou-Ya Lin; Chih-Chieh Yu; Hsin-Hui Chiu,; Wen-Fang Cheng; Hong-Nerng Ho; Dau-Ming Niu; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Ming-Huei Lin; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Ming-Ren Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Peng Liu; Jun-Wei Su; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations |
Chih-Ping Chen; Hsien-Ming Lin; Cheung Leung; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-12-01 |
Partial trisomy 1q (1q42.13->qter) and partial monosomy 6q (6q27->qter) in a girl with single median maxillary central incisor, dysgenesis of corpus callosum and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2007-09-01 |
Perinatal imaging findings of Galloway-Mowat syndrome |
Chih-Ping Chen.; Shuan-Pei Lin; Jeng-Daw Tsai; Jon-Kway Huang; Jui-Lung Yen; Ching-Chang Tseng; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder |
Chih-Ping Chen; Shuan-Pei Lin; Jun-Wei Su; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-12-01 |
Polysomnographic characteristics in patients with mucopolysaccharidoses |
Hsiang-Yu Lin; Ming-Ren Chen; Ching-Chi Lin; Chih-Ping Chen; Dar-Shong Lin; Chih-Kuang Chuang; Dau-Ming Niu; Jui-Hung Chang; Hung-Chang Lee; Shuan-Pei Lin |
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| [生物醫學研究所] 期刊論文 |
2007-03-01 |
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome) |
Chih-Ping Chen; Shuan-Pei Lin; Chin-Yuan Tzen; Wuh-Liang Hwu; Schu-Rern Chern; Chih-Kuang Chuang; Shu-Shien Chiang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-02-01 |
Prenatal diagnosis of X-linked myotubular myopathy |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Tao-Yeuan Wang; Hung-Hung Lin; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2007-09-01 |
Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome |
Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Hung-Chang Lee; Han-Yang Hung; Hsiang-Yu Lin; Jian-Pei Huang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation |
Chih-Ping Chen; Shuan-Pei Lin; Chyong-Hsin Hsu; Schu-Rern Chern; Jun-Wei Su; Yen-Jiun Chen; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Pure distal 9p deletion in a female infant with cerebral palsy |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Schu-Rern Chern; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
Pure interstitial duplication of chromosome 7q (7q31.2→q33) in a 4-year-old girl with growth restriction, short stature, speech delay and mental retardation |
Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Meng-Shan Lee; Yen-Jiun Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-11-01 |
Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis |
Chia-Cheng Hung; Shin-Yu Lin; Shuan-Pei Lin; Chih-Ping Chen; Lang-Yao Chen; Chien-Nan Lee; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Dai-Dyi Town; Li-Feng Chen; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Self-injurious behavior associated with trisomy 9p (9p13.1→p24.3) |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Wen-Lin Chen; Wayseen Wang |
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