Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 5

Results: 17

Childhood glaucoma: Implications for genetic counselling.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 545, doi. 10.1111/cge.14603

By:

Maxwell, Giorgina;
Souzeau, Emmanuelle

Publication type:

Article

In memory of Ludwine Messiaen, Ph.D. (1956–2024).

Published in:

2024

By:

De Baere, Elfride;
Legius, Eric;
Veitia, Reiner A.;
Claes, Kathleen

Publication type:

Obituary

Correction to "SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology".

Published in:: Clinical Genetics, 2024, v. 106, n. 5, p. 664, doi. 10.1111/cge.14597
Publication type:: Article

Identification of copy‐number variants in patients with overgrowth disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596

By:

Parra, Alejandro;
Tenorio‐Castano, Jair;
Nevado, Julián;
Cazalla, Mario;
Miranda‐Alcaraz, Lucía;
Gallego‐Zazo, Natalia;
Silván, Cristina;
Arias, Pedro;
Pozo‐Román, Jesús;
Ballesta‐Martínez, María Juliana;
Guillén‐Navarro, Encarna;
Arroyo, Ignacio;
Lotersztein, Vanesa;
Cosentino, Viviana;
González‐Meneses, Antonio;
Galán, Enrique;
Rosell, Jordi;
Ramos, Feliciano;
Plasencia, Antonio;
Rosa, Alberto L.

Publication type:

Article

Clinical and molecular characterization of limb‐girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 644, doi. 10.1111/cge.14589

By:

Gaviraghi, Tobias;
Cavalcanti, Eduardo B. U.;
Lorenzoni, Paulo José;
Cotta, Ana;
de Souza, Paulo V. S.;
de Oliveira, André D.;
de Moraes, Maria T.;
Marques, Marcos V. O.;
Donis, Karina C.;
Winckler, Pablo B.;
Costa e Silva, Cynthia;
Pinto, Wladimir B. V. R.;
Kay, Cláudia S. K.;
Ducci, Renata D.;
Rodrigues, Paula R. V. P.;
Fustes, Otto J. H.;
da Silva, André M. S.;
Zanoteli, Edmar;
França, Marcondes C.;
Sobreira, Cláudia F. R.

Publication type:

Article

Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 585, doi. 10.1111/cge.14593

By:

Stava, Tonje Talsnes;
Berge, Knut Erik;
Haugaa, Kristina Hermann;
Smedsrud, Marit Kristine;
Leren, Trond P.;
Bogsrud, Martin Prøven

Publication type:

Article

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 537, doi. 10.1111/cge.14592

By:

Previdi, Anaïk;
Jordan, Pénélope;
Egloff, Charles;
Coussement, Aurélie;
Ahmed‐Eli, Samira;
Tudal, Laure;
Bienvenu, Thierry;
Picone, Olivier;
Dupont, Jean‐Michel

Publication type:

Article

The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 661, doi. 10.1111/cge.14591

By:

Zampieri, Stefania;
Cattarossi, Silvia;
Ferri, Lorenzo;
Graziano, Claudio;
Santostefano, Marisa;
Morrone, Amelia;
Dardis, Andrea

Publication type:

Article

Genetics of 67 patients of suspected primary ciliary dyskinesia from India.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 650, doi. 10.1111/cge.14590

By:

Jat, Kana Ram;
Faruq, Mohammed;
Jindal, Shishir;
Bari, Shreya;
Soni, Akshita;
Sharma, Pooja;
Mathews, Susi;
Shamim, Uzma;
Ahuja, Vanshika;
Uppilli, Bharathram;
Yadav, Subhash C.;
Lodha, Rakesh;
Arava, Sudheer K.;
Kabra, Sushil K.

Publication type:

Article

Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 603, doi. 10.1111/cge.14595

By:

Sleyp, Yoeri;
Matthews, Harold S.;
Vanneste, Michiel;
Vandenhove, Laura;
Delanote, Valentine;
Hoskens, Hanne;
Indencleef, Karlijne;
Teule, Hanne;
Larmuseau, Maarten H. D.;
Steyaert, Jean;
Devriendt, Koenraad;
Claes, Peter;
Peeters, Hilde

Publication type:

Article

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587

By:

Furia, Francesca;
Levy, Amanda M.;
Theunis, Miel;
Bamshad, Michael J.;
Bartos, Meghan N.;
Bijlsma, Emilia K.;
Brancati, Francesco;
Cejudo, Lucile;
Chong, Jessica X.;
De Luca, Chiara;
Dean, Sarah Joy;
Egense, Alena;
Goel, Himanshu;
Guenzel, Adam J.;
Hüffmeier, Ulrike;
Legius, Eric;
Mancini, Grazia M. S.;
Marcos‐Alcalde, Iñigo;
Niclass, Tanguy;
Planes, Marc

Publication type:

Article

HDR syndrome: Large cohort and systematic review.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 564, doi. 10.1111/cge.14583

By:

Rive Le Gouard, Nicolas;
Lafond‐Rive, Valentin;
Jonard, Laurence;
Loundon, Natalie;
Achard, Sophie;
Heidet, Laurence;
Mosnier, Isabelle;
Lyonnet, Stanislas;
Brioude, Frederic;
Serey Gaut, Margaux;
Marlin, Sandrine

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 106, n. 5, p. 533, doi. 10.1111/cge.14376
Publication type:: Article

Compound heterozygous variants in SLC45A1 might cause syndromic intellectual disability by localization failure and activity attenuation in cells.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 638, doi. 10.1111/cge.14588

By:

Zhou, Chiyan;
Zhu, Jianjun;
Tang, Ping;
Zhu, Jingkang;
Zhu, Xinyi;
Yang, Li;
Bian, Wei;
Zhao, Wei;
Liu, Xiaodan

Publication type:

Article

Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non‐obstructive azoospermia in an Iranian family.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 625, doi. 10.1111/cge.14584

By:

Amiri‐Yekta, Amir;
Sen, Sharanya;
Hazane‐Puch, Florence;
Tebbakh, Célia;
Roux‐Buisson, Nathalie;
Cazin, Caroline;
Thierry‐Mieg, Nicolas;
Bouras, Ahmed;
Mohammad Ali, Sadighi‐Gilani;
Hosseini, Seyedeh‐Hanieh;
Goodarzian, Maedeh;
Gourabi, Hamid;
Ray, Pierre F.;
Kherraf, Zine‐Eddine

Publication type:

Article

Streamlined two‐step fragment analysis PCR and exome sequencing of RFC1 for diagnostic testing of suspected CANVAS patients.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 632, doi. 10.1111/cge.14586

By:

Jaklič, Helena;
Božović, Ivana Babič;
Peterlin, Borut;
Kovanda, Anja

Publication type:

Article

A rare form of LIM domain‐binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 659, doi. 10.1111/cge.14585

By:

Svaguša, Tomo;
Sedlić, Filip;
Županić, Sven;
Manola, Šime;
Bakoš, Matija;
Mirošević, Vid;
Livun, Ana

Publication type:

Article