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

Results: 17

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
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
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
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
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
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
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
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
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
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
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