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

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

Issue Information.

Published in:: Clinical Genetics, 2024, v. 106, n. 4, p. 375, doi. 10.1111/cge.14375
Publication type:: Article