Li Ping Tsai
Boston Children's Hospital
8 Papers
42 Citations
Li Ping Tsai is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Uniparental disomy & Gene. The author has an hindex of 6, co-authored 8 publications.
Chat about Author
Papers
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan.
Hsiang-Yu Lin,Shuan-Pei Lin,Chih-Kuang Chuang,Chih-Kuang Chuang,Ming-Ren Chen,Ming-Ren Chen,Jui Lung Yen,Yann-Jinn Lee,Yann-Jinn Lee,Chi Yu Huang,Li Ping Tsai,Dau Ming Niu,Mei Chyn Chao,Pao Lin Kuo +13 more
TL;DR: Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader–Willi syndrome (PWS), and this work aims to identify the genes responsible for this expression.
29
Mutation of IVS2 –12A/C>G in Combination with 707–714delGAGACTAC in the CYP21 Gene Is Caused by Deletion of the C4-CYP21 Repeat Module with Steroid 21-Hydroxylase Deficiency
TL;DR: The results indicate that the coexistence of these two mutations is caused by deletion of the CYP21P, XA, RP2, and C4B genes and intergenic recombination in the C4-CYP21 repeat module.
An effective strategy of using molecular testing to screen mentally retarded individuals for fragile X syndrome
Ching Cherng Tzeng,Shio Jean Lin,Yung Jung Chen,Pao Lin Kuo,Yuh Jyh Jong,Li Ping Tsai,Robert M. Chen +6 more
TL;DR: This study suggests that simple PCR combined with blood spot analysis could be a reliable, inexpensive test that is feasible for a large-scale screening of male subjects with MR for FXS, and Southern blot assay with mixed deoxyribonucleic acid is appropriate for screening female subjects.
11
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.
TL;DR: This report reports a patient of homozygous SOX9 deletion with minimal skeletal anomaly and female external genitalia in the presence of a male karyotype, highlighting the possibility of ACD in XY sex-reversed patients with minimal skeleton presentation.
8
Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism.
Dau Ming Niu,B Hwang,CM Tiu,Li Ping Tsai,JL Yen,Ni-Chung Lee,Ching-Yuang Lin,Ching-Yuang Lin +7 more
TL;DR: Evaluated the contribution of bone maturation in the diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hyp Timothyroidism in full‐term newborns, and uses bone m maturity to test the hypothesis that neonatal transference is perinatal in onset.
6