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

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