Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 4

Results: 19

Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 594, doi. 10.1111/cge.13928

By:

Somashekar, Puneeth H.;
Kaur, Parneet;
Stephen, Joshi;
Guleria, Vishal Singh;
Kadavigere, Rajagopal;
Girisha, Katta Mohan;
Bielas, Stephanie;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 588, doi. 10.1111/cge.13922

By:

Dupont, Juliette;
Vieira, José Pedro;
Tavares, Ana Lisa Taylor;
Conceição, Carla Ribeiro;
Khan, Suliman;
Bertoli‐Avella, Aida Maria;
Sousa, Ana Berta

Publication type:

Article

Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 583, doi. 10.1111/cge.13921

By:

Wu, Ling;
Li, Menghui;
Yin, Mingru;
Ou, Yangjie;
Yan, Zhiguang;
Kuang, Yanping;
Yan, Zheng;
Li, Bin

Publication type:

Article

Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 540, doi. 10.1111/cge.13911

By:

Majore, Silvia;
Agolini, Emanuele;
Micale, Lucia;
Pascolini, Giulia;
Zuppi, Paolo;
Cocciadiferro, Dario;
Morlino, Silvia;
Mattiuzzo, Matteo;
Valiante, Michele;
Castori, Marco;
Novelli, Antonio;
Grammatico, Paola

Publication type:

Article

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 577, doi. 10.1111/cge.13920

By:

Mor‐Shaked, Hagar;
Salah, Somaya;
Yanovsky‐Dagan, Shira;
Meiner, Vardiella;
Atawneh, Osama M.;
Abu‐Libdeh, Bassam;
Elpeleg, Orly;
Harel, Tamar

Publication type:

Article

PLACK syndrome is potentially treatable with intralipids.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 572, doi. 10.1111/cge.13919

By:

Sawan, Zinab A.;
Almehaidib, Ali;
Binamer, Yousef;
Monies, Dorota;
Alsaleem, Khalid A.;
Aldekhail, Wajeeh;
Alkuraya, Fowzan S.;
Abanemai, Mohammed

Publication type:

Article

A rare disease and education: Neurofibromatosis type 1 decreases educational attainment.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 529, doi. 10.1111/cge.13907

By:

Johansson, Edvard;
Kallionpää, Roope A.;
Böckerman, Petri;
Peltonen, Juha;
Peltonen, Sirkku

Publication type:

Article

Congenital cervical spine malformation due to bi‐allelic RIPPLY2 variants in spondylocostal dysostosis type 6.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 565, doi. 10.1111/cge.13916

By:

Wegler, Meret;
Roth, Christian;
Schumann, Eckehard;
Kogan, Jillene;
Totten, Ellen;
Guillen Sacoto, Maria J.;
Abou Jamra, Rami;
Hornemann, Frauke

Publication type:

Article

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 607, doi. 10.1111/cge.13909

By:

Miyake, Noriko;
Oliveira Stephan, Bruno;
Kim, Chong Ae;
Matsumoto, Naomichi

Publication type:

Article

Clinical characterization of novel HSPA9 splice variant in a Chinese woman.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 609, doi. 10.1111/cge.13910

By:

Li, Shufeng;
Zheng, Xiaojuan;
Wang, Ting;
Xue, Jun

Publication type:

Article

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 519, doi. 10.1111/cge.13906

By:

Rive Le Gouard, Nicolas;
Jacquinet, Adeline;
Ruaud, Lyse;
Deleersnyder, Hélène;
Ageorges, Faustine;
Gallard, Jennifer;
Lacombe, Didier;
Odent, Sylvie;
Mikaty, Myriam;
Manouvrier‐Hanu, Sylvie;
Ghoumid, Jamal;
Geneviève, David;
Lehman, Natacha;
Philip, Nicole;
Edery, Patrick;
Héron, Delphine;
Rastel, Coralie;
Chancenotte, Sophie;
Thauvin‐Robinet, Christel;
Faivre, Laurence

Publication type:

Article

Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 558, doi. 10.1111/cge.13913

By:

Shen, Qian;
Chen, Jiemei;
Yu, Minghui;
Lin, Zhi;
Nan, Xiaojuan;
Dong, Beijun;
Fang, Xiaoyan;
Chen, Jing;
Ding, Guixia;
Zhang, Aihua;
Gao, Chunlin;
Miao, Li;
Xu, Yuanyuan;
Jiang, Xiaoyun;
Bai, Haitao;
Zhuang, Jieqiu;
Gao, Xiaojie;
Xu, Hong

Publication type:

Article

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 547, doi. 10.1111/cge.13912

By:

Zarate, Yuri A.;
Bosanko, Katherine A.;
Thomas, Mary Ann;
Miller, David T.;
Cusmano‐Ozog, Kristina;
Martinez‐Monseny, Antonio;
Curry, Cynthia J.;
Graham, John M.;
Velsher, Lea;
Bekheirnia, Mir Reza;
Seidel, Veronica;
Dedousis, Demitrios;
Mitchell, Anna L.;
DiMarino, Amy M.;
Riess, Angelika;
Balasubramanian, Meena;
Fish, Jennifer L.;
Caffrey, Aisling R.;
Fleischer, Nicole;
Pierson, Tyler Mark

Publication type:

Article

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 513, doi. 10.1111/cge.13905

By:

Abbasi‐Moheb, Lia;
Westenberger, Ana;
Alotaibi, Maha;
Alghamdi, Malak Ali;
Hertecant, Jozef L.;
Ariamand, Amir;
Beetz, Christian;
Rolfs, Arndt;
Bertoli‐Avella, Aida M.;
Bauer, Peter

Publication type:

Article

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 604, doi. 10.1111/cge.13902

By:

Ziegler, Alban;
Denommé‐Pichon, Anne‐Sophie;
Boucher, Sophie;
Bouzamondo, Nathalie;
Colin, Estelle;
Dieu, Xavier;
Jean Yves, Tanguy;
Bouhours, Natacha;
Rouleau, Stéphanie;
Coutant, Régis;
Rodien, Patrice;
Prunier, Delphine;
Bonneau, Dominique

Publication type:

Article

Progress on the role of extrachromosomal DNA in tumor pathogenesis and evolution.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 503, doi. 10.1111/cge.13896

By:

Xing, Jichen;
Ning, Qian;
Tang, Diya;
Mo, Zhongcheng;
Lei, Xiaoyong;
Tang, Shengsong

Publication type:

Article

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 601, doi. 10.1111/cge.13893

By:

Tabolacci, Elisabetta;
Molinario, Clelia;
Marangi, Giuseppe;
Nobile, Veronica;
Arena, Vincenzo;
Mendes, Marisa I.;
Smith, Desiree E. C.;
Salomons, Gajja S.;
Tana, Milena;
Costa, Simonetta;
Vento, Giovanni;
Genuardi, Maurizio

Publication type:

Article

Tooth agenesis: What do we know and is there a connection to cancer?

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 493, doi. 10.1111/cge.13892

By:

Bonczek, Ondrej;
Krejci, Premysl;
Izakovicova‐Holla, Lydie;
Cernochova, Pavlina;
Kiss, Igor;
Vojtesek, Borivoj

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 99, n. 4, p. 491, doi. 10.1111/cge.13780
Publication type:: Article