Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 3

Results: 17

Expanding the phenotype of SETD5‐related disorder and presenting a novel association with bone fragility.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 352, doi. 10.1111/cge.14014

By:

Anderson, Elizabeth;
Lam, Zena;
Arundel, Paul;
Parker, Michael;
Balasubramanian, Meena

Publication type:

Article

De novo pathogenic DHX30 variants in two cases.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 350, doi. 10.1111/cge.14013

By:

Miyake, Noriko;
Kim, Chong Ae;
Haginoya, Kazuhiro;
Castro, Matheus Augusto Araujo;
Honjo, Rachel Sayruri;
Matsumoto, Naomichi

Publication type:

Article

PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 340, doi. 10.1111/cge.14008

By:

Xu, Dechao;
Bian, Rongrong;
Tuo, Suxin;
Li, Xuezhen;
Chen, Jing;
Xing, Xiaohong;
Lu, Yunhui;
Sun, Lijun;
Tang, Xiaojing;
Yu, Shengqiang;
Mao, Zhiguo;
Ma, Yiyi;
Mei, Changlin

Publication type:

Article

Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 334, doi. 10.1111/cge.14007

By:

Liu, Gang;
Xing, Xiaowei;
Zhang, Huan;
Zhu, Wenbing;
Lin, Ge;
Lu, Guangxiu;
Li, Weina

Publication type:

Article

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 329, doi. 10.1111/cge.14004

By:

Marconi, Caterina;
Lemmens, Laure;
Masclaux, Frédéric;
Mattioli, Francesca;
Fluss, Joël;
Extermann, Philippe;
Mendez, Purificacion;
Leuchter, Russia Ha‐Vinh;
Stathaki, Elissavet;
Laurent, Sacha;
Hammar, Eva;
Vannier, Anne;
Varvagiannis, Konstantinos;
Guipponi, Michel;
Sloan‐Bena, Frédérique;
Blouin, Jean‐Louis;
Abramowicz, Marc;
Fokstuen, Siv

Publication type:

Article

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 308, doi. 10.1111/cge.14002

By:

Yıldız, Yılmaz;
Koşukcu, Can;
Aygün, Damla;
Akçaboy, Meltem;
Öztek Çelebi, Fatma Zehra;
Taşcı Yıldız, Yasemin;
Şahin, Gülseren;
Aytekin, Caner;
Yüksel, Deniz;
Lay, İncilay;
Özgül, Rıza Köksal;
Dursun, Ali

Publication type:

Article

A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 298, doi. 10.1111/cge.14000

By:

Hebach, Nils R.;
Caro, Pilar;
Martin‐Giacalone, Bailey A.;
Lupo, Philip J.;
Marbach, Felix;
Choukair, Daniela;
Schaaf, Christian Patrick

Publication type:

Article

Current and experimental therapeutics for Fabry disease.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 239, doi. 10.1111/cge.13999

By:

Castelli, Vanessa;
Stamerra, Cosimo Andrea;
d'Angelo, Michele;
Cimini, Annamaria;
Ferri, Claudio

Publication type:

Article

The importance of precision medicine in modern molecular oncology.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 248, doi. 10.1111/cge.13998

By:

Wang, Yuanli;
Zheng, Dawu

Publication type:

Article

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 292, doi. 10.1111/cge.13997

By:

Radley, Jessica A.;
Connolly, Melissa;
Sabir, Ataf;
Kanani, Farah;
Carley, Helena;
Jones, Rachel L.;
Hyder, Zerin;
Gompertz, Lianne;
Reardon, Willie;
Richardson, Ruth;
McClelland, Louise;
Maher, Eamonn R.

Publication type:

Article

Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 348, doi. 10.1111/cge.13996

By:

Darcha, Claude;
Laffargue, Fanny;
Boutaud, Lucile;
Gallot, Denis;
Dauphin, Claire;
Garcier, Jean Marc;
Achaiaa, Amale;
Nitschke, Patrick;
Fourrage, Cécile;
Goumy, Carole;
Attie‐Bitach, Tania

Publication type:

Article

Pathogenic variants of ATG4D in infertile men with non‐obstructive azoospermia identified using whole‐exome sequencing.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 280, doi. 10.1111/cge.13995

By:

Sha, Yanwei;
Liu, Wensheng;
Wei, Xiaoli;
Zhu, Xingshen;
Tang, Bowen;
Zhang, Xiaoya;
Yang, Xiaoyu;
Wang, Yifeng;
Wang, Xiong

Publication type:

Article

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 268, doi. 10.1111/cge.13994

By:

Guida, Valentina;
Sparascio, Francesca Piceci;
Bernardini, Laura;
Pancheri, Francesco;
Melis, Daniela;
Cocciadiferro, Dario;
Pagnoni, Mario;
Puzzo, Marianna;
Goldoni, Marina;
Barone, Chiara;
Hozhabri, Hossein;
Putotto, Carolina;
Giuffrida, Maria Grazia;
Briuglia, Silvana;
Palumbo, Orazio;
Bianca, Sebastiano;
Stanzial, Franco;
Benedicenti, Francesco;
Kariminejad, Ariana;
Forzano, Francesca

Publication type:

Article

COG1‐congenital disorders of glycosylation: Milder presentation and review.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 318, doi. 10.1111/cge.13980

By:

Salazar, Marne;
Miyake, Noriko;
Silva, Sebastián;
Solar, Benjamín;
Papazoglu, Gabriela M.;
Asteggiano, Carla G.;
Matsumoto, Naomichi

Publication type:

Article

Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 258, doi. 10.1111/cge.13978

By:

Sena, Lucas Schenatto;
dos Santos Pinheiro, Jordânia;
Hasan, Ali;
Saraiva‐Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 100, n. 3, p. 237, doi. 10.1111/cge.13785
Publication type:: Article

A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 324, doi. 10.1111/cge.13993

By:

Wang, Yu;
Xiang, Mingfei;
Yu, Zhaojuan;
Hao, Yan;
Xu, Qianhua;
Kong, Shuai;
Wang, Fengsong;
Shi, Xuanming;
Song, Gaojie;
Cao, Yunxia;
Huang, Lingli;
Zhu, Fuxi

Publication type:

Article