Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 4

Results: 16

Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 421, doi. 10.1111/cge.14117

By:

Turgut, Gozde Tutku;
Altunoglu, Umut;
Sivrikoz, Tugba Sarac;
Toksoy, Guven;
Kalaycı, Tuğba;
Avcı, Şahin;
Karaman, Birsen;
Gulec, Cagri;
Başaran, Seher;
Sayın, Gözde Yeşil;
Kayserili, Hulya;
Uyguner, Zehra Oya

Publication type:

Article

Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 476, doi. 10.1111/cge.14118

By:

Linnenkamp, Bianca;
Girardi, Raissa;
Rocha, Letícia;
Yamamoto, Guilherme;
Ceroni, José Ricardo;
Mendes, Antonia Elisabeth Cristhina;
Honjo, Rachel;
Oliveira, Luiz Antônio;
Amemiya, Raphael Bruno;
Quaio, Caio;
de Oliveira Filho, João Bosco;
Kim, Chong Ae;
Bertola, Débora

Publication type:

Article

Late‐onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 466, doi. 10.1111/cge.14115

By:

Kim, Bong Jik;
Miyoshi, Takushi;
Chaudhry, Taimur;
Friedman, Thomas B.;
Choi, Byung Yoon;
Ueyama, Takehiko

Publication type:

Article

Kidney failure in Bardet–Biedl syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 429, doi. 10.1111/cge.14119

By:

Meyer, Jennifer R.;
Krentz, Anthony D.;
Berg, Richard L.;
Richardson, Jesse G.;
Pomeroy, Jeremy;
Hebbring, Scott J.;
Haws, Robert M.

Publication type:

Article

De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 459, doi. 10.1111/cge.14114

By:

Niu, Yue;
Qian, Qiaoqiao;
Li, Juan;
Gong, Pan;
Jiao, Xianru;
Mao, Xiao;
Xiao, Bo;
Long, Lili;
Yang, Zhixian

Publication type:

Article

Mitochondrial tRNA<sup>His</sup> mutation (m.12158A > G) associated with MELAS syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 474, doi. 10.1111/cge.14112

By:

Lee, Hyunjoo;
Na, Ji‐Hoon;
Lee, Young‐Mock

Publication type:

Article

Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 454, doi. 10.1111/cge.14111

By:

Leoni, Chiara;
Paradiso, Filomena Valentina;
Foschi, Nazario;
Tedesco, Marta;
Pierconti, Francesco;
Silvaroli, Sara;
Diego, Mario Di;
Birritella, Lisa;
Pantaleoni, Francesca;
Rendeli, Claudia;
Onesimo, Roberta;
Viscogliosi, Germana;
Bassi, Pierfrancesco;
Nanni, Lorenzo;
Genuardi, Maurizio;
Tartaglia, Marco;
Zampino, Giuseppe

Publication type:

Article

Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal study.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 411, doi. 10.1111/cge.14110

By:

Chen, Yu;
Yang, Yunyun;
Zhong, Yixuan;
Li, Jian;
Kong, Tao;
Zhang, Shuyuan;
Yang, Shujun;
Wu, Cunjin;
Cui, Bing;
Fu, Li;
Hui, Rutai;
Zhang, Weili

Publication type:

Article

An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 472, doi. 10.1111/cge.14109

By:

Chenbhanich, Jirat;
So, Joyce

Publication type:

Article

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 448, doi. 10.1111/cge.14108

By:

Liu, Yi‐Dan;
Huang, Shu‐Shu;
Li, Mei;
Lek, Monkol;
Song, Dan‐Yu;
Tan, Dan‐Dan;
Chen, Xiao‐Yu;
Zhang, Hong;
Liu, Jie‐Yu;
Chang, Xing‐Zhi;
Xiong, Hui

Publication type:

Article

Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 403, doi. 10.1111/cge.14107

By:

Abdelrahman, Hanadi A.;
Akawi, Nadia;
Al‐Shamsi, Aisha M.;
Ali, Amanat;
Al‐Jasmi, Fatma;
John, Anne;
Hertecant, Jozef;
Al‐Gazali, Lihadh;
Ali, Bassam R.

Publication type:

Article

Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 442, doi. 10.1111/cge.14106

By:

Michaeli, Orli;
Ladany, Hagay;
Erez, Ayelet;
Ben Shachar, Shay;
Izraeli, Shai;
Lidzbarsky, Gabriel;
Basel‐Salmon, Lina;
Biskup, Saskia;
Maruvka, Yosef E.;
Toledano, Helen;
Goldberg, Yael

Publication type:

Article

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 390, doi. 10.1111/cge.14102

By:

Germain, Dominique P.;
Levade, Thierry;
Hachulla, Eric;
Knebelmann, Bertrand;
Lacombe, Didier;
Seguin, Vanessa Leguy;
Nguyen, Karine;
Noël, Esther;
Rabès, Jean‐Pierre

Publication type:

Article

Featured Cover.

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 1, doi. 10.1111/cge.14091

By:

Germain, Dominique P.;
Levade, Thierry;
Hachulla, Eric;
Knebelmann, Bertrand;
Lacombe, Didier;
Seguin, Vanessa Leguy;
Nguyen, Karine;
Noël, Esther;
Rabès, Jean‐Pierre

Publication type:

Article

Identifying biomarkers for prenatal diagnosis of neural tube defects based on "omics".

Published in:

Clinical Genetics, 2022, v. 101, n. 4, p. 381, doi. 10.1111/cge.14087

By:

Huang, Wanqi;
Gu, Hui;
Yuan, Zhengwei

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 101, n. 4, p. 379, doi. 10.1111/cge.13984
Publication type:: Article