Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

Chih-Ping Chen; Tsang-Ming Ko; Tung-Yao Chang; Schu-Rern Chern; Shin-Wen Chen; Shih-Ting Lai; Tzu-Yun Chuang; Wayseen Wang

doi:10.1016/j.tjog.2017.12.021

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2017.12.021 ◽

2018 ◽

Vol 57 (1) ◽

pp. 123-127 ◽

Cited By ~ 4

Author(s):

Chih-Ping Chen ◽

Tsang-Ming Ko ◽

Tung-Yao Chang ◽

Schu-Rern Chern ◽

Shin-Wen Chen ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Compound Heterozygous ◽

Syndrome Type ◽

Type Iii ◽

Compound Heterozygous Mutations ◽

Short Rib Polydactyly Syndrome

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Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III

Clinica Chimica Acta ◽

10.1016/j.cca.2015.05.005 ◽

2015 ◽

Vol 447 ◽

pp. 47-51 ◽

Cited By ~ 12

Author(s):

Libin Mei ◽

Yanru Huang ◽

Qian Pan ◽

Wei Su ◽

Yi Quan ◽

...

Keyword(s):

Next Generation Sequencing ◽

Compound Heterozygous ◽

Syndrome Type ◽

Next Generation ◽

Type Iii ◽

Targeted Next Generation Sequencing ◽

Compound Heterozygous Mutations ◽

Short Rib Polydactyly Syndrome ◽

Generation Sequencing

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Novel compound heterozygous mutations inDYNC2H1in a patient with severe short-rib polydactyly syndrome type III phenotype

Congenital Anomalies ◽

10.1111/cga.12098 ◽

2015 ◽

Vol 55 (3) ◽

pp. 155-157 ◽

Cited By ~ 9

Author(s):

Toshio Okamoto ◽

Ken Nagaya ◽

Yumi Kawata ◽

Hiroko Asai ◽

Etsushi Tsuchida ◽

...

Keyword(s):

Compound Heterozygous ◽

Syndrome Type ◽

Type Iii ◽

Compound Heterozygous Mutations ◽

Short Rib Polydactyly Syndrome

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Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1

Stem Cell Research ◽

10.1016/j.scr.2019.101505 ◽

2019 ◽

Vol 39 ◽

pp. 101505 ◽

Cited By ~ 1

Author(s):

Haiyan Zhang ◽

Yanyan Ma ◽

Fengling Song ◽

Xiaomeng Yang ◽

Yue Li ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Syndrome Type ◽

Stem Cell Line ◽

Type Iii ◽

Compound Heterozygous Mutations ◽

Induced Pluripotent

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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2009.04.016 ◽

2009 ◽

Vol 84 (5) ◽

pp. 706-711 ◽

Cited By ~ 155

Author(s):

Nathalie Dagoneau ◽

Marie Goulet ◽

David Geneviève ◽

Yves Sznajer ◽

Jelena Martinovic ◽

...

Keyword(s):

Syndrome Type ◽

Type Iii ◽

Asphyxiating Thoracic Dystrophy ◽

Short Rib Polydactyly Syndrome ◽

Thoracic Dystrophy

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Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

Ophthalmic Genetics ◽

10.1080/13816810.2018.1479430 ◽

2018 ◽

Vol 39 (4) ◽

pp. 517-521 ◽

Cited By ~ 1

Author(s):

Nian Zhang ◽

Juan Wang ◽

Shuting Liu ◽

Mugen Liu ◽

Fagang Jiang

Keyword(s):

Usher Syndrome ◽

Chinese Family ◽

Compound Heterozygous ◽

Syndrome Type ◽

Compound Heterozygous Mutations ◽

Usher Syndrome Type

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Majewski syndrome (short-rib polydactyly syndrome type II): prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. Case report and literature review

Congenital Anomalies ◽

10.1111/cga.12066 ◽

2014 ◽

pp. n/a-n/a

Author(s):

Gabriele Tonni ◽

Marcella Palmisano ◽

Alessandro Ventura ◽

Gianpaolo Grisolia ◽

Ave Maria Baffico ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Literature Review ◽

Growth Plate ◽

Syndrome Type ◽

Type Ii ◽

Histological Features ◽

Short Rib Polydactyly Syndrome

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Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene

Ophthalmic Genetics ◽

10.3109/13816810.2015.1028647 ◽

2015 ◽

Vol 37 (2) ◽

pp. 217-227 ◽

Cited By ~ 3

Author(s):

Justin Wilkin ◽

Natalie C. Kerr ◽

Kathryn W. Byrd ◽

Jewell C. Ward ◽

Alessandro Iannaccone

Keyword(s):

Compound Heterozygous ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Pigmentary Retinopathy ◽

Type Iiia ◽

Compound Heterozygous Mutations

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Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

The Journal of Dermatology ◽

10.1111/1346-8138.15177 ◽

2019 ◽

Vol 47 (2) ◽

pp. 185-189 ◽

Cited By ~ 3

Author(s):

Takuro Nishikawa ◽

Ken Okamura ◽

Mizuki Moriyama ◽

Kenji Watanabe ◽

Atsuko Ibusuki ◽

...

Keyword(s):

Japanese Patient ◽

Compound Heterozygous ◽

Syndrome Type ◽

Hermansky Pudlak Syndrome ◽

Compound Heterozygous Mutations

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Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing

Genetics and Molecular Research ◽

10.4238/gmr.15028134 ◽

2016 ◽

Vol 15 (2) ◽

Cited By ~ 6

Author(s):

L.S. Chen ◽

S.J. Shi ◽

P.S. Zou ◽

M. Ma ◽

X.H. Chen ◽

...

Keyword(s):

Syndrome Type ◽

Next Generation ◽

Type Iii ◽

Short Rib Polydactyly Syndrome ◽

Panel Sequencing

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Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

Klinische Pädiatrie ◽

10.1055/s-0030-1249628 ◽

2010 ◽

Vol 222 (03) ◽

pp. 168-174 ◽

Cited By ~ 7

Author(s):

K. Sandrock ◽

I. Bartsch ◽

N. Rombach ◽

K. Schmidt ◽

L. Nakamura ◽

...

Keyword(s):

Compound Heterozygous ◽

Syndrome Type ◽

Hermansky Pudlak Syndrome ◽

Compound Heterozygous Mutations

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