Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 4

Results: 14

PSMC1 variant causes a novel neurological syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 324, doi. 10.1111/cge.14195

By:

Aharoni, Sarit;
Proskorovski‐Ohayon, Regina;
Krishnan, Ramesh Kumar;
Yogev, Yuval;
Wormser, Ohad;
Hadar, Noam;
Bakhrat, Anna;
Alshafee, Ismael;
Gombosh, Maya;
Agam, Nadav;
Gradstein, Libe;
Shorer, Zamir;
Zarivach, Raz;
Eskin‐Schwartz, Marina;
Abdu, Uri;
Birk, Ohad S.

Publication type:

Article

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193

By:

Carli, Diana;
Operti, Matteo;
Russo, Silvia;
Cocchi, Guido;
Milani, Donatella;
Leoni, Chiara;
Prada, Elisabetta;
Melis, Daniela;
Falco, Mariateresa;
Spina, Jennifer;
Uliana, Vera;
Sara, Osimani;
Sirchia, Fabio;
Tarani, Luigi;
Macchiaiolo, Marina;
Cerrato, Flavia;
Sparago, Angela;
Pignata, Laura;
Tannorella, Pierpaola;
Cardaropoli, Simona

Publication type:

Article

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 253, doi. 10.1111/cge.14185

By:

Heidemann, Britt E.;
Koopal, Charlotte;
Baass, Alexis;
Defesche, Joep C.;
Zuurbier, Linda;
Mulder, Monique T.;
Roeters van Lennep, Jeanine E.;
Riksen, Niels P.;
Boot, Christopher;
Marais, A. David;
Visseren, Frank L. J.

Publication type:

Article

A novel splice site variant in the POPDC3 causes autosomal recessive limb‐girdle muscular dystrophy type 26.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 345, doi. 10.1111/cge.14192

By:

Zhang, Lin;
Li, Wenwu;
Weng, Yuting;
Lin, Keqin;
Huang, Kai;
Ma, Shaohui;
Chu, Jiayou;
Yang, Zhaoqing;
Zhang, Xiaochao;
Sun, Hao

Publication type:

Article

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 296, doi. 10.1111/cge.14190

By:

Durand, Benjamin;
Schaefer, Elise;
Burger, Pauline;
Baer, Sarah;
Schroder, Carmen;
Mandel, Jean‐Louis;
Piton, Amélie;
Coutelle, Romain

Publication type:

Article

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 339, doi. 10.1111/cge.14189

By:

Vela‐Sebastián, Ana;
López‐Gallardo, Ester;
Emperador, Sonia;
Hernández‐Ainsa, Carmen;
Pacheu‐Grau, David;
Blanco, Ignacio;
Ros, Andrea;
Pascual‐Benito, Ester;
Rabaneda‐Lombarte, Neus;
Presas‐Rodríguez, Silvia;
García‐Robles, Pilar;
Montoya, Julio;
Ruiz‐Pesini, Eduardo

Publication type:

Article

Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 262, doi. 10.1111/cge.14188

By:

Powel, Jennifer E.;
Sham, Catherine E.;
Spiliopoulos, Michail;
Ferreira, Carlos R.;
Rosenthal, Emily;
Sinkovskaya, Elena S.;
Brown, Shannon;
Jelin, Angie C.;
Al‐Kouatly, Huda B.

Publication type:

Article

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 355, doi. 10.1111/cge.14186

By:

Pi, Shanyu;
Mao, Xiao;
Long, Hongyu;
Wang, Hua

Publication type:

Article

Evolutionary origin of pathogenic GJB2 alleles in China.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 305, doi. 10.1111/cge.14191

By:

Jiang, Yi;
Huang, Shasha;
Zhang, Yi;
Fang, Nan;
Liu, Qian;
Liu, Yunchao;
Bai, Ling;
Han, Dongyi;
Dai, Pu

Publication type:

Article

A new SMOC2 mutation within selective tooth agenesis, malformed teeth and dentin dysplasia.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 352, doi. 10.1111/cge.14184

By:

Ruan, Wenyan;
Duan, Xiaohong

Publication type:

Article

Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 333, doi. 10.1111/cge.14183

By:

Kantaputra, Piranit Nik;
Guven, Yeliz;
Tripuwabhrut, Kanich;
Adisornkanj, Ploy;
Hatsadaloi, Athiwat;
Kaewgahya, Massupa;
Olsen, Bjorn;
Ngamphiw, Chumpol;
Jatooratthawichot, Peeranat;
Tongsima, Sissades;
Ketudat Cairns, James R.

Publication type:

Article

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 350, doi. 10.1111/cge.14182

By:

Leeuwen, Lisette;
Lubout, Charlotte M. A.;
Nijenhuis, Hessel P.;
Meiners, Linda C.;
Vos, Yvonne J.;
Herkert, Johanna C.

Publication type:

Article

Clinical and genetic characterization of CACNA1A‐related disease.

Published in:

Clinical Genetics, 2022, v. 102, n. 4, p. 288, doi. 10.1111/cge.14180

By:

Lipman, Amy R.;
Fan, Xiao;
Shen, Yufeng;
Chung, Wendy K.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 102, n. 4, p. 252, doi. 10.1111/cge.13990
Publication type:: Article