Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 3

Results: 20

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Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 1, doi. 10.1111/cge.14607

By:

Aggarwal, Shagun;
Vineeth, Venugopal Satidevi;
Padwal, Shrutika S.;
Bhat, Sameer Ahmed;
Singh, Arpita;
Kulkarni, Aditya;
Patil, Mallikarjun;
Tallapaka, Karthik;
Pasumarthi, Divya;
Venkatapuram, Vijayasree;
Thotakura, Pragna Lakshmi;
Dalal, Ashwin;
Bhandari, Rashna

Publication type:

Article

The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 217, doi. 10.1111/cge.14566

By:

Ben‐Chetrit, Eldad;
Touitou, Isabelle

Publication type:

Article

Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5′ UTR of ANKRD26.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 315, doi. 10.1111/cge.14547

By:

Dunstan‐Harrison, Caitlin;
Morison, Ian M.;
Ledgerwood, Elizabeth C.

Publication type:

Article

SERPINA11 related novel serpinopathy – A perinatal lethal disorder.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 367, doi. 10.1111/cge.14564

By:

Aggarwal, Shagun;
Vineeth, Venugopal Satidevi;
Padwal, Shrutika S.;
Bhat, Sameer Ahmed;
Singh, Arpita;
Kulkarni, Aditya;
Patil, Mallikarjun;
Tallapaka, Karthik;
Pasumarthi, Divya;
Venkatapuram, Vijayasree;
Thotakura, Pragna Lakshmi;
Dalal, Ashwin;
Bhandari, Rashna

Publication type:

Article

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 360, doi. 10.1111/cge.14549

By:

Aagaard Nolting, Line;
Holling, Tess;
Nishimura, Gen;
Ek, Jakob;
Bak, Mads;
Ljungberg, Merete;
Kutsche, Kerstin;
Hove, Hanne

Publication type:

Article

Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 354, doi. 10.1111/cge.14548

By:

Zhou, Wei;
Wang, Chunli;
Fu, Luhan;
Shi, Wei;
Zhang, Aihua;
Jia, Zhanjun;
Zhao, Xiaoke;
Fu, Dalin;
Zheng, Bixia

Publication type:

Article

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 336, doi. 10.1111/cge.14546

By:

Wang, Zhi;
Sun, Yan;
Zhang, Yiyin;
Zhang, Yan;
Zhang, Ran;
Li, Changying;
Liu, Xuyan;
Pan, Fengjiao;
Qiao, Dan;
Shi, Xiaomeng;
Zhang, Bingying;
Xu, Ning;
Bottillo, Irene;
Shao, Leping

Publication type:

Article

Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 342, doi. 10.1111/cge.14545

By:

Mehrjoo, Yosra;
Campeau, Philippe M.;
Al Abdi, Lama;
Aldowaish, Abdullah;
Abouyousef, Omar;
Alkuraya, Fowzan S.;
Codina‐Solà, Marta;
Cueto‐González, Anna M.;
Wurtele, Hugo

Publication type:

Article

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 347, doi. 10.1111/cge.14550

By:

Khan, Fati Ullah;
Khan, Hammal;
Ullah, Kifayat;
Nawaz, Shoaib;
Abdullah;
Khan, Muhammad Javed;
Ahmed, Sohail;
Ilyas, Muhammad;
Ali, Amjad;
Ullah, Imran;
Sohail, Aamir;
Hussain, Shabir;
Ahmad, Farooq;
Faisal;
Sufyan, Raza;
Hayat, Amir;
Hanif, Tooba;
Bibi, Fatima;
Hayat, Maria;
Ullah, Rehmat

Publication type:

Article

High prevalence of copy number variations in the Japanese participants with suspected MODY.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 293, doi. 10.1111/cge.14544

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Azuma, Kenkou;
Higuchi, Sayaka;
Ujiie, Atsushi;
Hashimoto, Koshi;
Iwasaki, Naoko

Publication type:

Article

Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 321, doi. 10.1111/cge.14543

By:

Tucker, Elena J.;
Sharp, Michael F.;
Lokchine, Anna;
Bell, Katrina M.;
Palmer, Catherine S.;
Kline, Brianna L.;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Dulon, Jérôme;
Stojanovski, Diana;
Ayers, Katie L.;
Touraine, Philippe;
Crismani, Wayne;
Jaillard, Sylvie;
Sinclair, Andrew H.

Publication type:

Article

Outcomes of a universal germline screening program in a community urology practice.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 277, doi. 10.1111/cge.14541

By:

Mendhiratta, Neil;
Hauver, Herman;
Hatton, Whitley;
Ostrusky, Andrew;
Sathe, Devika S.;
Gurram, Sandeep;
Rice, Patricia;
Chalfin, Heather

Publication type:

Article

Genetic profile of Brazilian patients with LAMA2‐related dystrophies.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 305, doi. 10.1111/cge.14538

By:

Camelo, Clara Gontijo;
Moreno, Cristiane de Araujo Martins;
Artilheiro, Mariana da Cunha;
Fonseca, Alulin Tácio Quadros Monteiro;
Gurgel Gianetti, Juliana;
Barbosa, André Vinícius;
Donis, Karina Carvalho;
Saute, Jonas Alex Morales;
Pessoa, André;
Van der Linden, Hélio;
Gonçalves, Ana Rita Alcântara;
Kulikowski, Leslie Domenici;
Kok, Fernando;
Zanoteli, Edmar

Publication type:

Article

A fine‐scale genetic map of the Japanese population.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 284, doi. 10.1111/cge.14536

By:

Takayama, Jun;
Makino, Satoshi;
Funayama, Takamitsu;
Ueki, Masao;
Narita, Akira;
Murakami, Keiko;
Orui, Masatsugu;
Ishikuro, Mami;
Obara, Taku;
Kuriyama, Shinichi;
Yamamoto, Masayuki;
Tamiya, Gen

Publication type:

Article

Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 258, doi. 10.1111/cge.14529

By:

Ozguc Caliskan, Busra;
Uslu, Kubra;
Sinim Kahraman, Neslihan;
Erkilic, Kuddusi;
Oner, Ayse;
Dundar, Munis

Publication type:

Article

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 267, doi. 10.1111/cge.14530

By:

Yu, Jindan;
Ling, Xiuxin;
Chen, Lingli;
Fang, Youhong;
Lin, Haihua;
Lou, Jingan;
Ren, Yanqi;
Chen, Jie

Publication type:

Article

Simplified detection of genetic background admixture using artificial intelligence.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 247, doi. 10.1111/cge.14527

By:

Pauly, Rini;
Alexander Feltus, Frank

Publication type:

Article

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525

By:

Billes, Alexis;
Pujalte, Mathilde;
Jedraszak, Guillaume;
Amsallem, Daniel;
Boudry‐Labis, Elise;
Boute, Odile;
Bouquillon, Sonia;
Brischoux‐Boucher, Elise;
Callier, Patrick;
Coutton, Charles;
Denizet, Anne‐Laude Avice;
Dieterich, Klaus;
Kuentz, Paul;
Lespinasse, James;
Mazel, Benoît;
Morin, Gilles;
Amram, Florence;
Pennamen, Perrine;
Rio, Marlène;
Piard, Juliette

Publication type:

Article

Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 224, doi. 10.1111/cge.14524

By:

Vogel, Georg‐Friedrich;
Podpeskar, Alexandra;
Rieder, Dietmar;
Salzer, Helin;
Garczarczyk‐Asim, Dorota;
Wang, Li;
Abuduxikuer, Kuerbanjiang;
Wang, Jian‐She;
Scharrer, Anke;
Faqeih, Eissa Ali;
Aseeri, Ali T.;
Vodopiutz, Julia;
Heilos, Andreas;
Pichler, Judith;
Huber, Wolf‐Dietrich;
Müller, Thomas;
Knisely, A. S.;
Janecke, Andreas R.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 106, n. 3, p. 215, doi. 10.1111/cge.14374
Publication type:: Article