Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 4

Results: 19

Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 462, doi. 10.1111/cge.14582
By:
- Jiang, Mengzhu;
- Zhang, Shuai;
- Liu, Jing;
- Pang, Bo;
- Bai, Yijiang;
- Chen, Yongjia;
- Huang, Huping;
- Ling, Jie;
- Mei, Lingyun
Publication type:
Article
Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 386, doi. 10.1111/cge.14581
By:
- Kofoed, Andreas W. S.;
- Kristiansen, Silvia S.;
- Miranda, Maria J.;
- Rubboli, Guido;
- Johannesen, Katrine M.
Publication type:
Article
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 525, doi. 10.1111/cge.14580
By:
- Pitiot, Ana S.;
- Blay, Pilar;
- Díaz‐Navarro, Ander;
- Fernández‐Arrojo, Sara;
- Romero, Rosa;
- Álvarez‐Eguiluz, Ángel;
- Alvarado, Marta G.;
- Álvarez, Nieves;
- García‐Teijido, Paula;
- Fernández, Yolanda;
- Palacio, Isabel;
- Puente, Xose S.;
- Balbín, Milagros
Publication type:
Article
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 448, doi. 10.1111/cge.14579
By:
- Oyler, Haley O.;
- Hudac, Caitlin M.;
- Chung, Wendy K.;
- Green Synder, LeeAnne;
- Robertson, Stephanie;
- Srivastava, Siddharth;
- Geye, Trina
Publication type:
Article
New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 518, doi. 10.1111/cge.14578
By:
- Schnur, Rhonda E.;
- Dvořáček, Lukáš;
- Kalsner, Louisa;
- Shapiro, Faye L.;
- Grebeňová, Dana;
- Yanni, Diana;
- Wasserman, Barry N.;
- Agrawal, Pankaj;
- Parker, Margaret;
- Yu, Timothy;
- Douglas, Jessica;
- Young, Vanessa;
- D'Gama, Alissa;
- Hills, Sonia;
- Wojcik, Monika;
- Brownstein, Catherine;
- Genetti, Casie;
- Schmith‐Abe, Klaus;
- Dyer, Lisa M.;
- Antonarakis, Stylianos E.
Publication type:
Article
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 427, doi. 10.1111/cge.14577
By:
- Tvergaard, Nicolai Kohring;
- Tkemaladze, Tinatin;
- Stödberg, Tommy;
- Kvarnung, Malin;
- Tatton‐Brown, Katrina;
- Baralle, Diana;
- Tümer, Zeynep;
- Bayat, Allan
Publication type:
Article
EZH2‐associated tumor malignancy: A prominent target for cancer treatment.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 377, doi. 10.1111/cge.14576
By:
- Sabour‐Takanlou, Maryam;
- Sabour‐Takanlou, Leila;
- Biray‐Avci, Cigir
Publication type:
Article
A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 437, doi. 10.1111/cge.14575
By:
- Rahim, Fazal;
- Tao, Liu;
- Khan, Khalid;
- Ali, Imtiaz;
- Zeb, Aurang;
- Khan, Ihsan;
- Dil, Sobia;
- Abbas, Tanveer;
- Hussain, Ansar;
- Zubair, Muhammad;
- Zhang, Huan;
- Hui, Ma;
- Khan, Muzammil Ahmad;
- Shah, Wasim;
- Shi, Qinghua
Publication type:
Article
Re‐analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4‐2 related neurodevelopmental disorder.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 512, doi. 10.1111/cge.14574
By:
- Schot, Rachel;
- Ferraro, Federico;
- Geeven, Geert;
- Diderich, Karin E. M.;
- Barakat, Tahsin Stefan
Publication type:
Article
Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 505, doi. 10.1111/cge.14573
By:
- Lin, Siying;
- Robson, Anthony G.;
- Thompson, Dorothy A.;
- Stepien, Karolina M.;
- Lachmann, Robin;
- Footitt, Emma;
- Czyz, Ola;
- Chandrasekhar, Shwetha;
- Schiff, Elena;
- Iosifidis, Christos;
- Black, Graeme C.;
- Michaelides, Michel;
- Mahroo, Omar A.;
- Arno, Gavin;
- Webster, Andrew R.
Publication type:
Article
A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non‐syndromic postaxial polydactyly type A9 (PAPA9).
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 488, doi. 10.1111/cge.14572
By:
- Umair, Muhammad;
- Ahmed, Zaheer;
- Shaker, Bilal;
- Bilal, Muhammad;
- Al Abdulrahman, Abdulkareem;
- Khan, Hammal;
- Jawad Khan, Muhammad;
- Alfadhel, Majid
Publication type:
Article
B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 476, doi. 10.1111/cge.14571
By:
- Gauthier, Lucas W.;
- Gossez, Morgane;
- Malcus, Christophe;
- Viel, Sébastien;
- Monneret, Guillaume;
- Bordonné, Remy;
- Pons, Linda;
- Cabet, Sara;
- Delous, Marion;
- Mazoyer, Sylvie;
- Putoux, Audrey;
- Edery, Patrick
Publication type:
Article
Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 483, doi. 10.1111/cge.14570
By:
- Morali, Burcin;
- Miranda, Valancy;
- Raelson, John;
- Grimard, Guy;
- Glavas, Peter;
- Audibert, François;
- Dumont, Nicolas A.;
- Barone, Julia;
- Bamshad, Michael;
- Lemyre, Emmanuelle;
- Campeau, Philippe M.
Publication type:
Article
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 394, doi. 10.1111/cge.14569
By:
- Mio, Catia;
- Zucco, Jessica;
- Fabbro, Dora;
- Bregant, Elisa;
- Baldan, Federica;
- Allegri, Lorenzo;
- D'Elia, Angela Valentina;
- Collini, Valentino;
- Imazio, Massimo;
- Damante, Giuseppe;
- Faletra, Flavio
Publication type:
Article
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 403, doi. 10.1111/cge.14568
By:
- Lecca, Mauro;
- Mauri, Lucia;
- Gana, Simone;
- Del Longo, Alessandra;
- Morelli, Federica;
- Nicotra, Roberta;
- Plumari, Massimo;
- Galli, Jessica;
- Sirchia, Fabio;
- Valente, Enza Maria;
- Cavallari, Ugo;
- Mazza, Marco;
- Signorini, Sabrina;
- Errichiello, Edoardo
Publication type:
Article
Non‐dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 500, doi. 10.1111/cge.14567
By:
- Vodnjov, Nina;
- Zupan Mežnar, Anja;
- Maver, Aleš;
- Dolinšek, Ajda;
- Peterlin, Borut;
- Writzl, Karin
Publication type:
Article
Short stature and dysmorphic features in Asian Indian siblings with DAAM2‐associated steroid‐resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 494, doi. 10.1111/cge.14565
By:
- Pragna Lakshmi, T.;
- Saini, Neelam;
- Shah, Mehul A.;
- Gowrishankar, Swarnalata;
- Dalal, Ashwin;
- Ranganath, Prajnya
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 375, doi. 10.1111/cge.14375
Publication type:
Article
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 413, doi. 10.1111/cge.14563
By:
- Rad, Aboulfazl;
- Bartsch, Oliver;
- Bakhtiari, Somayeh;
- Zhu, Changlian;
- Xu, Yiran;
- Monteiro, Fabíola P.;
- Kok, Fernando;
- Vulto‐van Silfhout, Anneke T.;
- Kruer, Michael C.;
- Bowl, Michael R.;
- Vona, Barbara
Publication type:
Article