Literature DB >> 23826986

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

Y Tsurusaki1, R Yonezawa, M Furuya, G Nishimura, R K Pooh, M Nakashima, H Saitsu, N Miyake, S Saito, N Matsumoto.   

Abstract

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Year:  2013        PMID： 23826986     DOI： 10.1111/cge.12215

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.

Authors:  Sarah M Robbins; Matthew A Thimm; David Valle; Angie C Jelin
Journal:  J Assist Reprod Genet       Date:  2019-07-04       Impact factor: 3.412

Review 2.  Multiomics Studies Investigating Recurrent Pregnancy Loss: An Effective Tool for Mechanism Exploration.

Authors:  Jianan Li; Linlin Wang; Jinli Ding; Yanxiang Cheng; Lianghui Diao; Longfei Li; Yan Zhang; Tailang Yin
Journal:  Front Immunol       Date:  2022-04-27       Impact factor: 8.786

3.  Whole exome sequencing in recurrent early pregnancy loss.

Authors:  Ying Qiao; Jiadi Wen; Flamingo Tang; Sally Martell; Naomi Shomer; Peter C K Leung; Mary D Stephenson; Evica Rajcan-Separovic
Journal:  Mol Hum Reprod       Date:  2016-01-28       Impact factor: 4.025

4.  Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Authors:  Anas M Alazami; Mohammed Zain Seidahmed; Fatema Alzahrani; Adam O Mohammed; Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2013-12-10       Impact factor: 2.183

5.  Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Authors:  Karen L Stals; Matthew Wakeling; Júlia Baptista; Richard Caswell; Andrew Parrish; Julia Rankin; Carolyn Tysoe; Garan Jones; Adam C Gunning; Hana Lango Allen; Lisa Bradley; Angela F Brady; Helena Carley; Jenny Carmichael; Bruce Castle; Deirdre Cilliers; Helen Cox; Charu Deshpande; Abhijit Dixit; Jacqueline Eason; Frances Elmslie; Andrew E Fry; Alan Fryer; Muriel Holder; Tessa Homfray; Emma Kivuva; Victoria McKay; Ruth Newbury-Ecob; Michael Parker; Ravi Savarirayan; Claire Searle; Nora Shannon; Deborah Shears; Sarah Smithson; Ellen Thomas; Peter D Turnpenny; Vinod Varghese; Pradeep Vasudevan; Emma Wakeling; Emma L Baple; Sian Ellard
Journal:  Prenat Diagn       Date:  2017-12-03       Impact factor: 3.050

6.  A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report.

Authors:  Qi Yang; Qiang Zhang; Fei Chen; Shang Yi; Mengting Li; Sheng Yi; Xingmin Xu; Jingsi Luo
Journal:  Exp Ther Med       Date:  2021-02-01       Impact factor: 2.447

7.  A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.

Authors:  Toshifumi Suzuki; Mahdiyeh Behnam; Firooze Ronasian; Mansoor Salehi; Masaaki Shiina; Eriko Koshimizu; Atsushi Fujita; Futoshi Sekiguchi; Satoko Miyatake; Takeshi Mizuguchi; Mitsuko Nakashima; Kazuhiro Ogata; Satoru Takeda; Naomichi Matsumoto; Noriko Miyake
Journal:  J Hum Genet       Date:  2018-02-13       Impact factor: 3.172

Review 8.  A potential new mechanism for pregnancy loss: considering the role of LINE-1 retrotransposons in early spontaneous miscarriage.

Authors:  Chao Lou; John L Goodier; Rong Qiang
Journal:  Reprod Biol Endocrinol       Date:  2020-01-21       Impact factor: 5.211

9.  High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Authors:  Anna Lindstrand; Giedre Grigelioniene; Anna Hammarsjö; Maria Pettersson; David Chitayat; Atsuhiko Handa; Britt-Marie Anderlid; Marco Bartocci; Donald Basel; Dominyka Batkovskyte; Ana Beleza-Meireles; Peter Conner; Jesper Eisfeldt; Katta M Girisha; Brian Hon-Yin Chung; Eva Horemuzova; Hironobu Hyodo; Liene Korņejeva; Kristina Lagerstedt-Robinson; Angela E Lin; Måns Magnusson; Shahida Moosa; Shalini S Nayak; Daniel Nilsson; Hirofumi Ohashi; Naoko Ohashi-Fukuda; Henrik Stranneheim; Fulya Taylan; Rasa Traberg; Ulrika Voss; Valtteri Wirta; Ann Nordgren; Gen Nishimura
Journal:  J Hum Genet       Date:  2021-04-20       Impact factor: 3.172

10.  A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Authors:  Maria Kaukonen; Inka-Tuulevi Pettinen; Kaisa Wickström; Meharji Arumilli; Jonas Donner; Ida-Julia Juhola; Saila Holopainen; Joni A Turunen; Masahito Yoshihara; Juha Kere; Hannes Lohi
Journal:  Hum Genet       Date:  2021-02-19       Impact factor: 4.132
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