Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 3

Results: 18

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 375, doi. 10.1111/cge.13487

By:

Kang, Jenny;
Kim, Jung‐Wook;
Kim, Youn J.;
Zhang, Hong;
Hu, Yuanyuan;
Zhang, Chuhua;
Simmer, James P.;
Hu, Jan C‐C.;
Seymen, Figen;
Koruyucu, Mine;
Kasimoglu, Yelda;
Ikeda, Atsushi;
Bartlett, John D.;
Bayram, Merve;
Kawasaki, Kazuhiko;
Saunders, Thomas L.

Publication type:

Article

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500

By:

Antin, Manuela;
Leuvrey, Anne;
Nourisson, Elsa;
Mary, Laura;
Muller, Jean;
Bouvier, Raymonde;
Buenerd, Annie;
Clémenson, Alix;
Devisme, Louise;
Gasser, Bernard;
Gilbert‐Dussardier, Brigitte;
Guimiot, Fabien;
Khau Van Kien, Philippe;
Leroy, Brigitte;
Loget, Philippe;
Stoetzel, Corinne;
Schaefer, Elise;
Dollfus, Hélène;
Chennen, Kirsley;
Martinovic, Jelena

Publication type:

Article

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 415, doi. 10.1111/cge.13489

By:

Krygier, Magdalena;
Sławek, Jarosław;
Krawczyńska, Natalia;
Kwarciany, Mariusz;
Karaszewski, Bartosz;
Wasilewska, Krystyna;
Kosińska, Joanna;
Stawinski, Piotr;
Płoski, Rafał;
Rydzanicz, Małgorzata;
Pienkowski, Victor Murcia;
Zielonka, Daniel;
Rudzińska‐Bar, Monika;
Boczarska‐Jedynak, Magdalena;
Limon, Janusz

Publication type:

Article

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 444, doi. 10.1111/cge.13477

By:

Petrova, Nika V.;
Marakhonov, Andrey V.;
Vasilyeva, Tatiana A.;
Kashirskaya, Natalya Y.;
Ginter, Evgeny K.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

Publication type:

Article

Front Cover.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. i, doi. 10.1111/cge.13520

By:

Zhang, Ya‐Xin;
Li, Hai‐Yu;
Tu, Chaofeng;
He, Wen‐Bin;
Du, Juan;
Li, Wen;
Lu, Guang‐Xiu;
Lin, Ge;
Tan, Yue‐Qiu;
Yang, Yongjia

Publication type:

Article

Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 427, doi. 10.1111/cge.13503

By:

Wohlfart, Sigrun;
Schneider, Holm

Publication type:

Article

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome.

Published in:

2019

By:

Filatova, Alexandra;
Freire, Valeria;
Bessonova, Ludmila;
Skoblov, Mikhail;
Lozier, Ekaterina;
Konovalov, Fedor;
Kanivets, Ilya;
Korostelev, Sergey;
Iudina, Elena;
Gnetetskaya, Valentina

Publication type:

Case Study

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493

By:

Van‐Gils, Julien;
Naudion, Sophie;
Toutain, Jérôme;
Lancelot, Gwenaelle;
Taine, Laurence;
Arveiler, Benoit;
Lacombe, Didier;
Fergelot, Patricia;
Attié‐Bitach, Tania;
Martinovic, Jelena;
Blesson, Sophie;
Demeer, Bénédicte;
Doray, Bérénice;
Gonzales, Marie;
Whalen, Sandra

Publication type:

Article

A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 368, doi. 10.1111/cge.13485

By:

Bonaparte, Eleonora;
Costanza, Jole;
Paganini, Leda;
Tabano, Silvia M.;
Miozzo, Monica;
Fontana, Laura;
Colapietro, Patrizia;
Hadi, Loubna A.;
Riboni, Laura;
Chetta, Massimiliano;
Rovina, Davide;
Sirchia, Silvia M.;
Pezzani, Lidia;
Marchisio, Paola;
Milani, Donatella

Publication type:

Article

Bi‐allelic recessive loss‐of‐function mutations in FIGLA cause premature ovarian insufficiency with short stature.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 409, doi. 10.1111/cge.13486

By:

Yuan, Ping;
Li, Yu;
Wang, Wenjun;
Yang, Dongzi;
He, Zuyong;
Liang, Xinyu;
Sun, Silong;
Xie, Xuefeng;
Jiang, Yiqi

Publication type:

Article

Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 356, doi. 10.1111/cge.13484

By:

Ader, Flavie;
Aoutil, Nadia;
Richard, Pascale;
Casalta, Anne‐Claire;
Michel, Nicolas;
Haentjens, Julie;
Lavoute, Cecile;
Habib, Gilbert;
Faivre, Laurence;
Nguyen, Karine;
Roux, Maguelonne;
Tregouët, David‐Alexandre;
Charron, Philippe;
Donal, Erwan;
Eicher, Jean‐Christophe;
Huttin, Olivier;
Selton‐Suty, Christine;
Coisne, Damien;
Jondeau, Guillaume;
Damy, Thibaud

Publication type:

Article

A genome‐wide association study identifies new genes associated with developmental dysplasia of the hip.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 345, doi. 10.1111/cge.13483

By:

Yan, Wenjin;
Dai, Jin;
Zheng, Liming;
Yu, Pengjun;
Yan, Wenqiang;
Han, Xiao;
Xu, Xingquan;
Shi, Dongquan;
Jiang, Qing;
Hao, Zheng;
Tang, Shuyan;
Ikegawa, Shiro;
Teng, Huajian

Publication type:

Article

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 436, doi. 10.1111/cge.13470

By:

Thuresson, Ann‐Charlotte;
Soussi Zander, Cecilia;
Zhao, Jin J.;
Halvardson, Jonatan;
Maqbool, Khurram;
Feuk, Lars;
Månsson, Else;
Stenninger, Eric;
Holmlund, Ulrika;
Öhrner, Ylva

Publication type:

Article

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 442, doi. 10.1111/cge.13475

By:

Zhang, Ya‐Xin;
Li, Hai‐Yu;
Tu, Chaofeng;
He, Wen‐Bin;
Du, Juan;
Li, Wen;
Lu, Guang‐Xiu;
Lin, Ge;
Tan, Yue‐Qiu;
Yang, Yongjia

Publication type:

Article

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 403, doi. 10.1111/cge.13473

By:

Bisgaard, Anne‐Marie;
Schönewolf‐Greulich, Bitten;
Jespersgaard, Cathrine;
Tümer, Zeynep;
Dunø, Morten;
Brøndum‐Nielsen, Karen;
Rokkjær, Mette;
Hansen, Lars K.;
Tsoutsou, Eirini;
Sofokleous, Christalena;
Topcu, Meral;
Kaur, Simran;
Van Bergen, Nicole J.;
Christodoulou, John;
Larsen, Martin J.;
Sørensen, Kristina P.;
Fagerberg, Christina R.

Publication type:

Article

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 398, doi. 10.1111/cge.13468

By:

Somashekar, Puneeth H.;
Girisha, Katta M.;
Shukla, Anju;
Lewis, Leslie E. S.;
Shailaja, Shenoy;
Nampoothiri, Sheela;
Gowrishankar, Kalpana;
Devi, Radha R.;
Gupta, Neerja;
Narayanan, Dhanya L.;
Kaur, Anupriya;
Bajaj, Shruti;
Jagadeesh, Sujatha

Publication type:

Article

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain.

Published in:

2019

By:

Peng, Y.;
Wang, P.;
Chen, Z.;
Jiang, H.

Publication type:

Case Study

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 95, n. 3, p. 343, doi. 10.1111/cge.13395
Publication type:: Article