Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 6

Results: 13

De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 683, doi. 10.1111/cge.14521
By:
- Maslennikov, Dmitry;
- Tolmacheva, Ekaterina;
- Shubina, Jekaterina;
- Vasiliev, Grigory;
- Rogacheva, Margarita;
- Svirepova, Ksenia;
- Trofimov, Dmitry
Publication type:
Article
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 589, doi. 10.1111/cge.14507
By:
- West, Elizabeth Casey;
- Chiappetta, Marco;
- Mattingly, Aubrey Anne;
- Congedo, Maria Teresa;
- Evangelista, Jessica;
- Campanella, Annalisa;
- Sassorossi, Carolina;
- Flamini, Sara;
- Rossi, Teresa;
- Pistoni, Mariaelena;
- Abenavoli, Ludovico;
- Margaritora, Stefano;
- Lococo, Filippo;
- Boccuto, Luigi
Publication type:
Article
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 639, doi. 10.1111/cge.14495
By:
- Majethia, Purvi;
- Kaur, Namanpreet;
- Mascarenhas, Selinda;
- Rao, Lakshmi Priya;
- Pande, Shruti;
- Narayanan, Dhanya Lakshmi;
- Bhat, Vivekananda;
- Nayak, Shalini S.;
- Nair, Karthik Vijay;
- Prasannakumar, Adarsh Pooradan;
- Chaurasia, Ankur;
- Hunakunti, Bhagesh;
- Jadhav, Nalesh;
- Farooqui, Sheeba;
- Yeole, Mayuri;
- Kothiwale, Vishaka;
- Naik, Rohit;
- Bhat, Veena;
- Aroor, Shrikiran;
- Lewis, Leslie
Publication type:
Article
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 671, doi. 10.1111/cge.14502
By:
- Michelson, Marina;
- Yosovich, Keren;
- Bahar, Sarit;
- Yogev, Yuval;
- Birk, Ohad S.;
- Ginzberg, Mira;
- Lev, Dorit
Publication type:
Article
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 666, doi. 10.1111/cge.14501
By:
- Previdi, Anaïk;
- Dubourg, Christèle;
- Cormier Daire, Valérie;
- Fradin, Mélanie;
- Collet, Corinne
Publication type:
Article
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 661, doi. 10.1111/cge.14499
By:
- Hoem, Gry;
- Pastore, Arianna;
- Bratland, Eirik;
- Christoffersen, Terje;
- Stornaiuolo, Mariano;
- Douzgou, Sofia
Publication type:
Article
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
By:
- Rots, Dmitrijs;
- Rooney, Kathleen;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Pfundt, Rolph;
- Marcelis, Carlo;
- Willemsen, Marjolein H.;
- van Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Alders, Marielle;
- Õunap, Katrin;
- Reimand, Tiia;
- Fjodorova, Olga;
- Berland, Siren;
- Liahjell, Eva Benedicte;
- Bojovic, Ognjen;
- Kriek, Marjolein;
- Ruivenkamp, Claudia;
- Bonati, Maria Teresa
Publication type:
Article
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 676, doi. 10.1111/cge.14505
By:
- Ader, Flavie;
- Jedraszak, Guillaume;
- Janin, Alexandre;
- Billon, Clarisse;
- Buisson, Nathalie Roux;
- Bloch, Adrien;
- Bensalah, Meriem;
- De Sandre‐Giovannoli, Anachiara;
- Goudal, Adeline;
- Marsili, Luisa;
- Cazeneuve, Cécile;
- Charron, Philippe;
- Millat, Gilles;
- Richard, Pascale
Publication type:
Article
Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 630, doi. 10.1111/cge.14493
By:
- Morris, Emily;
- McGrail, Kimberlyn;
- Cressman, Sonya;
- Stewart, S. Evelyn;
- Austin, Jehannine
Publication type:
Article
Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 620, doi. 10.1111/cge.14492
By:
- Almannai, Mohammed;
- Marafi, Dana;
- Zaki, Maha S.;
- Maroofian, Reza;
- Efthymiou, Stephanie;
- Saadi, Nebal Waill;
- Filimban, Bilal;
- Dafsari, Hormos Salimi;
- Rahman, Fatima;
- Maqbool, Shazia;
- Faqeih, Eissa;
- Al Mutairi, Fuad;
- Alsharhan, Hind;
- Abdelaty, Omar;
- Bin‐Hasan, Saadoun;
- Duan, Ruizhi;
- Noureldeen, Mahmoud M.;
- Alqattan, Alaa;
- Houlden, Henry;
- Hunter, Jill V.
Publication type:
Article
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 611, doi. 10.1111/cge.14491
By:
- Mehvari, Sepideh;
- Karimian Fathi, Nahid;
- Saki, Sara;
- Asadnezhad, Maryam;
- Arzhangi, Sanaz;
- Ghodratpour, Fatemeh;
- Mohseni, Marzieh;
- Zare Ashrafi, Farzane;
- Sadeghian, Saeed;
- Boroumand, Mohammadali;
- Shokohizadeh, Fatemeh;
- Rostami, Elham;
- Boroumand, Rahnama;
- Najafipour, Reza;
- Malekzadeh, Reza;
- Riazalhosseini, Yasser;
- Akbari, Mohammadreza;
- Lathrop, Mark;
- Najmabadi, Hossein;
- Hosseini, Kaveh
Publication type:
Article
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 596, doi. 10.1111/cge.14490
By:
- Turgut, Gozde Tutku;
- Altunoglu, Umut;
- Gulec, Cagri;
- Sarac Sivrikoz, Tugba;
- Kalaycı, Tuğba;
- Toksoy, Guven;
- Avcı, Şahin;
- Yıldırım, Behiye Tuğçe;
- Sayın, Gözde Yeşil;
- Kalelioglu, Ibrahim Halil;
- Karaman, Birsen;
- Has, Recep;
- Başaran, Seher;
- Yuksel, Atil;
- Kayserili, Hülya;
- Uyguner, Zehra Oya
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 587, doi. 10.1111/cge.14371
Publication type:
Article