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1

Concomitant chyloperitoneum and omental cysts presenting as fetal ascites with intra-abdominal cysts on prenatal ultrasound

Chih-Ping Chen, Schu-Rern Chern, Shuan-Pei Lin, Pei-Yeh Chang, Kuo-Ming Chang, Fon-Jou Hsieh

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

2

Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR

Chia-Cheng Hung, Shin-Yu Lin, Shuan-Pei Lin, Dou-Ming Niu, Ni-Chung Lee, Wen-Fang Cheng, Chih-Ping Chen, Win-Li Lin, Chien-Nan Lee, Yi-Ning Su

Journal:

ELECTROPHORESIS

Year:

2009

Language:

english

File:

PDF, 268 KB

english, 2009

3

Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus

Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, Yueh-Chun Li, Lie-Jiau Hsieh, Schu-Rern Chern, Chen-Chi Lee, Li-Feng Chen, Hui-Min Hua, Wayseen Wang

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 183 KB

english, 2006

4

Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome

Chih-Ping Chen, Shuan-Pei Lin, Tzu-Hao Wang, Yann-Jang Chen, Ming Chen, Wayseen Wang

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

5

Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion

Chih-Ping Chen, Tung-Yao Chang, Jin-Chung Shih, Shuan-Pei Lin, Chen-Ju Lin, Wayseen Wang, Chen-Chi Lee, Dai-Dyi Town, Chen-Wen Pan, Chin-Yuan Tzen

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 146 KB

english, 2002

6

Prenatal diagnosis of mosaic 22q11.2 microdeletion

Chih-Ping Chen, Schu-Rern Chern, Chen-Chi Lee, Shuan-Pei Lin, Tung-Yao Chang, Wayseen Wang

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 144 KB

english, 2004

7

Detection of chromosome aberrations during prenatal genetic testing for single gene disorders

Chih-Ping Chen, Shuan-Pei Lin

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 92 KB

english, 2004

8

High-Resolution Melting Analysis Is a More Effective Approach for Screening TSC Genes Mutations

Tsai, Tz-Shiu, Huang, Mu-Yi, Wang, Chuan-Yu, Lin, Ju-Li, Hung, Po-Cheng, Lin, Shuan-Pei, Sun, Chien-Feng, Wang, Wei-Shun, Chang, Chung-Ming, Chang, Yu-Tsui

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2011

Language:

english

File:

PDF, 337 KB

english, 2011

9

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

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 333 KB

english, 2008

10

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, Wen-Ling Chen, Wayseen Wang

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 664 KB

english, 2010

11

Clinical Features of Ehlers-Danlos Syndrome

Jui-Lung Yen, Shuan-Pei Lin, Ming-Ren Chen, Dau-Ming Niu

Journal:

Journal of the Formosan Medical Association

Year:

2006

Language:

english

File:

PDF, 348 KB

english, 2006

12

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 275 KB

english, 2012

13

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Chiu, Pao, Ke, Yu-Yuan, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Ju-Li, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 389 KB

english, 2014

14

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

Lin, Shuan-Pei, Lin, Hsiang-Yu, Wang, Tuen-Jen, Chang, Chia-Ying, Lin, Chia-Hui, Huang, Sung-Fa, Tsai, Chia-Chen, Liu, Hsuan-Liang, Keutzer, Joan, Chuang, Chih-Kuang

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 310 KB

english, 2013

15

Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment

Lin, Shuan-Pei, Shih, Shou-Chuan, Chuang, Chih-Kuang, Lee, Kuo-Sheng, Chen, Ming-Ren, Niu, Dau-Ming, Chiu, Pao Chin, Lin, Shio Jean, Lin, Hsiang-Yu

Journal:

Pediatric Pulmonology

Year:

2014

Language:

english

File:

PDF, 1.10 MB

english, 2014

16

A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses

Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuen-Jen, Tsai, Chia-Chen, Liu, Hsuan-Liang, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.25 MB

english, 2014

17

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Su, Yi-Ning, Chen, Ming-Ren, Chiu, Hui-Chin, Niu, Dau-Ming, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 585 KB

english, 2015

18

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Tu, Ru-Yi, Fang, Yi-Ya, Su, Yi-Ning, Chen, Chih-Ping, Chang, Chia-Ying, Liu, Hsi-Che, Chu, Tzu-Hung, Niu, Dau-Ming, Lin, Shuan-Pei

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 839 KB

english, 2016

19

Pediatric sialendoscopy in Asians: A preliminary report

Su, Chin-Hui, Lee, Kuo-Sheng, Hsu, Jui-Hsien, Lee, Fei-Peng, Lin, Hsiang-Yu, Lin, Shuan-Pei, Hung, Shih-Han

Journal:

Journal of Pediatric Surgery

Year:

2016

Language:

english

File:

PDF, 335 KB

english, 2016

20

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 695 KB

english, 2018

21

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA

Lin, Hsiang-Yu, Chen, Ming-Ren, Lin, Shan-Miao, Hung, Chung-Lieh, Niu, Dau-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.51 MB

english, 2018

22

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Lin, Pei-Yi, Tseng, Min-Hua, Zenker, Martin, Rao, Jia, Hildebrandt, Friedhelm, Lin, Shih-Hua, Lin, Chun-Chen, Chang, Jui-Hsing, Hsu, Chyong-Hsin, Lee, Ming-Dar, Lin, Shuan-Pei, Tsai, Jeng-Daw

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 4.06 MB

english, 2018

23

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

Lin, Hsiang-Yu, Chen, Ming-Ren, Lin, Shan-Miao, Hung, Chung-Lieh, Niu, Dau-Ming, Chang, Tung-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 783 KB

english, 2019

24

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

Lin, Hsiang-Yu, Chen, Ming-Ren, Lin, Shan-Miao, Hung, Chung-Lieh, Niu, Dau-Ming, Chang, Tung-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 783 KB

2019

25

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Giugliani, Roberto, Harmatz, Paul, Lin, Shuan-Pei, Scarpa, Maurizio

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 528 KB

2020

26

CVS-exposed limb deficiency defects with or without other birth defects: Presentation of six cases born during a period of nine years

Chen, Chih-Ping, Liu, Fen-Fen, Jan, Sheau-Wen, Lin, Shuan-Pei, Lan, Chung-Chi

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 662 KB

1996

27

Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: A study of 50 patients

Lin, Dar-Shong, Huang, Fu-Yuan, Lin, Shuan-Pei, Chen, Min-Ren, Kao, Hsin-An, Hung, Han-Yang, Hsu, Chyong-Hsin

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 328 KB

english, 1997

28

PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3p AND PARTIAL TRISOMY 2p IN A FETUS ASSOCIATED WITH SHORTENING OF THE LONG BONES AND A SINGLE UMBILICAL ARTERY

CHIH-PING CHEN, FEN-FEN LIU, SHEAU-WEN JAN, SHUAN-PEI LIN, CHUNG-CHI LAN

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 737 KB

english, 1996

29

Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21)

Chih-Ping Chen, Cheng-Chun Lin, Chun-Yu Chuang, Chen-Chi Lee, Wen-Lin Chen, Sheau-Wen Jan, Shuan-Pei Lin

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 99 KB

english, 1997

30

Maternal serum screening abnormality in a fetus associated with arthrogryposis multiplex congenita and amyoplasia

Chih-Ping Chen, Shuan-Pei Lin

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 28 KB

english, 1997

31

Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

Chih-Ping Chen, Koenraad Devriendt, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang, Shuan-Pei Lin

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 186 KB

english, 2000

32

Mutation analysis of Wilson disease in Taiwan and description of six new mutations

Chang-Hai Tsai, Fuu-Jen Tsai, Jer-Yuarn Wu, Jang-Gowth Chang, Cheng-Chun Lee, Shuan-Pei Lin, Chi-Fan Yang, Yuh-Jyh Jong, Man-Chi Lo

Journal:

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

33

Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan

Chang-Hai Tsai, Fuu-Jen Tsai, Jer-Yuarn Wu, Shuan-Pei Lin, Jang-Gowth Chang, Chi-Fan Yang, Cheng-Chun Lee

Journal:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

34

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)

Mei-Chen Wu, Fuu-Jen Tsai, Cheng-Chun Le, Shuan-Pei Lin, Jer-Yuarn Wu

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

35

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy

Shuan-Pei Lin, Elizabeth M. Petty, Lisa H. Gibson, Joann Inserra, Margretta R. Seashore, Teresa L. Yang-Feng

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 289 KB

english, 1992

36

Generalized arterial calcification of infancy: Different clinical courses in two affected siblings

Kun-Shan Cheng, Ming-Ren Chen, Nico Ruf, Shuan-Pei Lin, Frank Rutsch

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 178 KB

english, 2005

37

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

Chih-Ping Chen, Schu-Rern Chern, Shuan-Pei Lin, Chyi-Chyang Lin, Yueh-Chun Li, Tzu-Hao Wang, Chen-Chi Lee, Chen-Wen Pan, Lie-Jiau Hsieh, Wayseen Wang

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

38

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004

Hsiang-Yu Lin, Shuan-Pei Lin, Yen-Jiun Chen, Han-Yang Hung, Hsin-An Kao, Chyong-Hsin Hsu, Ming-Ren Chen, Jui-Hsing Chang, Che-Sheng Ho, Fu-Yuan Huang, Shyh-Dar Shyur, Dar-Shong Lin, Hung-Chang Lee

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 164 KB

english, 2006

39

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q

Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, Yann-Jang Chen, Schu-Rern Chern, Yueh-Chun Li, Lie-Jiau Hsieh, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

40

Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004

Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Dau-Ming Niu, Ming-Ren Chen, Fuu-Jen Tsai, Mei-Chyn Chao, Pao-Ching Chiu, Shio-Jean Lin, Li-Ping Tsai, Wuh-Liang Hwu, Ju-Li Lin

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 95 KB

english, 2009

41

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver–Russell syndrome

Shin-Yu Lin, Chien-Nan Lee, Chia-Cheng Hung, Wen-Yu Tsai, Shuan-Pei Lin, Ni-Chung Li, Wu-Shiun Hsieh, Yi-Ching Tung, Dau-Ming Niu, Wen-Ming Hsu, Lang-Yao Chen, Mei-Ya Fang, Mei-Pin Tu, Pei-Wen Kuo, Ch

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 391 KB

english, 2010

42

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

Dar-Shong Lin, Chun-Yan Yeung, Hsuan-Liang Liu, Che-Sheng Ho, Chyong-Hsin Shu, Chih-Kuang Chuang, Yu-Wen Huang, Tsu-Yen Wu, Zon-Darr Huang, Yuan-Ren Jian, Shuan-Pei Lin

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 906 KB

english, 2011

43

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis

Chi-Fan Yang, Fuu-Jen Tsai, Shuan-Pei Lin, Cheng-Chun Lee, Jer-Yuarn Wu

Journal:

Year:

2001

Language:

english

File:

PDF, 17 KB

english, 2001

44

Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome

Fuu-Jen Tsai, Wuh-Liang Hwu, Shuan-Pei Lin, Jan-Gowth Chang, Tso-Ren Wang, Chang-Hai Tsai

Journal:

Year:

1998

Language:

english

File:

PDF, 184 KB

english, 1998

45

MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes

Chang Chih-Kuang, Lin Shuan-Pei, Lee Shyue-Jye, Wang Tuen-Jen

Journal:

Journal of Clinical Laboratory Analysis

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

46

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

Journal:

Journal of Clinical Ultrasound

Year:

2007

Language:

english

File:

PDF, 204 KB

english, 2007

47

Targeting histone deacetylase in cancer therapy

Hsiang-Yu Lin, Chang-Shi Chen, Shuan-Pei Lin, Jing-Ru Weng, Ching-Shih Chen

Journal:

Medicinal Research Reviews

Year:

2006

Language:

english

File:

PDF, 442 KB

english, 2006

48

Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis

Chia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, Hui-Yu Cheng, Chiou-Ya Lin, Chien-Hui Chang, Hsin-Hui Chiu, Chih-Chieh Yu, Shuan-Pei Lin, Wen-Fang Cheng, Hong-Nerng Ho, Dau-Ming Niu, Yi-Ning Su

Journal:

Analytical Biochemistry

Year:

2009

Language:

english

File:

PDF, 1017 KB

english, 2009

49

A method for lactate and pyruvate determination in filter-paper dried blood spots

Chih-Kuang Chuang, Tuen-Jen Wang, Chun-Yan Yeung, Dar-Shong Lin, Hsiang-Yu Lin, Hsuan-Liang Liu, Hsin-Tsung Ho, Wen-Shyang Hsieh, Shuan-Pei Lin

Journal:

Journal of Chromatography A

Year:

2009

Language:

english

File:

PDF, 422 KB

english, 2009

50

Interference and blood sample preparation for a pyruvate enzymatic assay

Chih-Kuang Chuang, Tuen-Jen Wang, Chun-Yan Yeung, Wen-Shyang Hsieh, Dar-Shong Lin, Shinn-Chamg Ho, Shuan-Pei Lin

Journal:

Clinical Biochemistry

Year:

2006

Language:

english

File:

PDF, 113 KB

english, 2006

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