Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 2

Results: 14

Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 176, doi. 10.1111/cge.13973

By:

Omer, Salma;
Jin, Sheng Chih;
Koumangoye, Rainelli;
Robert, Stephanie M.;
Duran, Daniel;
Nelson‐Williams, Carol;
Huttner, Anita;
DiLuna, Michael;
Kahle, Kristopher T.;
Delpire, Eric

Publication type:

Article

Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 119, doi. 10.1111/cge.13966

By:

Makhnoon, Sukh;
Bednar, Erica M.;
Krause, Kate J.;
Peterson, Susan K.;
Lopez‐Olivo, Maria A.

Publication type:

Article

Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 219, doi. 10.1111/cge.13976

By:

Zhang, Li;
Pan, Lijuan;
Teng, Yanling;
Liang, Desheng;
Li, Zhuo;
Wu, Lingqian

Publication type:

Article

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979

By:

Panneerselvam, Sugi;
Wang, Julia;
Zhu, Wenmiao;
Dai, Hongzheng;
Pappas, John G.;
Rabin, Rachel;
Low, Karen J.;
Rosenfeld, Jill A.;
Emrick, Lisa;
Xiao, Rui;
Xia, Fan;
Yang, Yaping;
Eng, Christine M.;
Anderson, Anne;
Chau, Vann;
Soler‐Alfonso, Claudia;
Streff, Haley;
Lalani, Seema R.;
Mercimek‐Andrews, Saadet;
Bi, Weimin

Publication type:

Article

ANKRD11 variants: KBG syndrome and beyond.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977

By:

Parenti, Ilaria;
Mallozzi, Mark B.;
Hüning, Irina;
Gervasini, Cristina;
Kuechler, Alma;
Agolini, Emanuele;
Albrecht, Beate;
Baquero‐Montoya, Carolina;
Bohring, Axel;
Bramswig, Nuria C.;
Busche, Andreas;
Dalski, Andreas;
Guo, Yiran;
Hanker, Britta;
Hellenbroich, Yorck;
Horn, Denise;
Innes, A. Micheil;
Leoni, Chiara;
Li, Yun R.;
Lynch, Sally Ann

Publication type:

Article

A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 234, doi. 10.1111/cge.13974

By:

Puma, Angela;
Ezaru, Andra;
Cavalli, Michele;
Villa, Luisa;
Torre, Federico;
Biancalana, Valérie;
Levade, Thierry;
Grecu, Nicolae;
Sacconi, Sabrina

Publication type:

Article

Nonsense‐mediated mRNA decay efficiency influences bleeding severity in ITGA2B c.2659C > T (p.Q887X) knock‐in mice.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 213, doi. 10.1111/cge.13975

By:

Xie, Zhanli;
Jiang, Jiang;
Cao, Lijuan;
Jiang, Miao;
Yang, Fei;
Ma, Zhenni;
Wang, Zhaoyue;
Ruan, Changgeng;
Liu, Hong;
Zhou, Lu

Publication type:

Article

Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 206, doi. 10.1111/cge.13972

By:

El Chehadeh, Salima;
Legrand, Anne;
Stoetzel, Corinne;
Geoffroy, Véronique;
Billon, Clarisse;
Adham, Salma;
Jeunemaître, Xavier;
Jaussaud, Roland;
Muller, Jean;
Schaefer, Elise;
Benistan, Karelle;
Gaertner, Sébastien;
Bloch‐Zupan, Agnès;
Courval, Aymeric;
Manière, Marie‐Cécile;
Petit, Catherine;
Bursztejn, Anne‐Claire;
Bal, Laurence;
Reyre, Anthony;
Chammas, Agathe

Publication type:

Article

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 201, doi. 10.1111/cge.13970

By:

Majethia, Purvi;
Somashekar, Puneeth Hirivate;
Hebbar, Malavika;
Kadavigere, Rajagopal;
Praveen, Balike Krishna;
Girisha, Katta Mohan;
Shukla, Anju

Publication type:

Article

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 168, doi. 10.1111/cge.13969

By:

McKenzie, Fiona;
Mina, Kym;
Callewaert, Bert;
Beyens, Aude;
Dickinson, Jan E.;
Jevon, Gareth;
Papadimitriou, John;
Diness, Birgitte Rode;
Steensberg, Jesper Norman;
Ek, Jakob;
Baynam, Gareth

Publication type:

Article

Molecular genetics of inherited retinal degenerations in Icelandic patients.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 156, doi. 10.1111/cge.13967

By:

Thorsteinsson, Daniel A.;
Stefansdottir, Vigdis;
Eysteinsson, Thor;
Thorisdottir, Sigridur;
Jonsson, Jon J.

Publication type:

Article

The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 132, doi. 10.1111/cge.13968

By:

Berkman, Amy M.;
Hildebrandt, Michelle A. T.;
Landstrom, Andrew P.

Publication type:

Article

Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 144, doi. 10.1111/cge.13965

By:

Li, Na;
Zhou, Pei;
Yang, Miaomiao;
Fang, Xiang;
Krämer, Nadine;
Mughal, Tauqeer Ahmed;
Abbasi, Ansar A.;
Yang, Ye;
Kaindl, Angela M.;
Hu, Hao

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 100, n. 2, p. 117, doi. 10.1111/cge.13784
Publication type:: Article