Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 5

Results: 16

Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 603, doi. 10.1111/cge.14293
By:
- Zhao, Shuai;
- Cui, Ying;
- Guo, Shunli;
- Liu, Boyang;
- Bian, Yuehong;
- Zhao, Shigang;
- Chen, Zijiang;
- Zhao, Han
Publication type:
Article
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 590, doi. 10.1111/cge.14292
By:
- Inoue, Yuta;
- Tsuchida, Naomi;
- Okamoto, Nobuhiko;
- Shuichi, Shimakawa;
- Ohashi, Kei;
- Saitoh, Shinji;
- Ogawa, Atsushi;
- Hamada, Keisuke;
- Sakamoto, Masamune;
- Miyake, Noriko;
- Hamanaka, Kohei;
- Fujita, Atsushi;
- Koshimizu, Eriko;
- Miyatake, Satoko;
- Mizuguchi, Takeshi;
- Ogata, Kazuhiro;
- Uchiyama, Yuri;
- Matsumoto, Naomichi
Publication type:
Article
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 553, doi. 10.1111/cge.14311
By:
- Bryen, Samantha J.;
- Zhang, Katharine;
- Dziaduch, Gregory;
- Bommireddipalli, Shobhana;
- Naseri, Take;
- Reupena, Muagututi'a Sefuiva;
- Viali, Satupa'itea;
- Minster, Ryan L.;
- Waddell, Leigh B.;
- Charlton, Amanda;
- O'Grady, Gina L.;
- Evesson, Frances J.;
- Cooper, Sandra T.
Publication type:
Article
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 503, doi. 10.1111/cge.14309
By:
- Al‐Kouatly, Huda B.;
- Shivashankar, Kavya;
- Mossayebi, Matthew H.;
- Makhamreh, Mona;
- Critchlow, Elizabeth;
- Gao, Zimeng;
- Fasehun, Luther‐King;
- Alkuraya, Fowzan S.;
- Ryan, Erin E.;
- Hegde, Madhuri;
- Wodoslawsky, Sascha;
- Hughes, Joel;
- Berger, Seth I.
Publication type:
Article
Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 540, doi. 10.1111/cge.14310
By:
- Halliday, Dorothy;
- Emmanouil, Beatrice;
- Evans, D. Gareth R.
Publication type:
Article
Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 513, doi. 10.1111/cge.14313
By:
- Rezapour, Aziz;
- Souresrafil, Aghdas;
- Barzegar, Mohammad;
- Sheikhy‐Chaman, Mohammadreza;
- Tatarpour, Parvin
Publication type:
Article
Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 596, doi. 10.1111/cge.14300
By:
- Yang, Fan;
- Sun, Huaqin;
- Yang, Yanting;
- Wang, Yanan;
- Dai, Siyu;
- Lin, Ziyuan;
- Shen, Ying;
- Liu, Hongqian
Publication type:
Article
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 585, doi. 10.1111/cge.14289
By:
- Dame, Christof;
- Horn, Denise;
- Schomburg, Lutz;
- Grünhagen, Johannes;
- Chillon, Thilo Samson;
- Tietze, Anna;
- Vogt, Annika;
- Bührer, Christoph
Publication type:
Article
Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 529, doi. 10.1111/cge.14285
By:
- Tan, Sheng;
- Chen, Jili;
- Wang, Zheng;
- Zhao, Xiaokai;
- Sun, Yonghua;
- Zhu, Youcai;
- Gong, Ziying;
- Zhang, Daoyun
Publication type:
Article
Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 612, doi. 10.1111/cge.14284
By:
- Martinez, Guillaume;
- Metzler‐Guillemain, Catherine;
- Cazin, Caroline;
- Kherraf, Zine‐Eddine;
- Paulmyer‐Lacroix, Odile;
- Arnoult, Christophe;
- Ray, Pierre F.;
- Coutton, Charles
Publication type:
Article
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 580, doi. 10.1111/cge.14280
By:
- Fussiger, Helena;
- Pereira, Bruna Letícia da Silva;
- Padilha, Janice Pacheco Dias;
- Donis, Karina Carvalho;
- Siebert, Marina;
- Brusius‐Facchin, Ana Carolina;
- Baldo, Guilherme;
- Saute, Jonas Alex Morales
Publication type:
Article
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 574, doi. 10.1111/cge.14277
By:
- Mollaoğlu, Ezgi;
- Uludağ Alkaya, Dilek;
- Yıldız, Ceren Ayça;
- Kasap, Buşra;
- Tüysüz, Beyhan
Publication type:
Article
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 566, doi. 10.1111/cge.14275
By:
- Alvarez, Carolina;
- Grimmel, Mona;
- Ebrahimi‐Fakhari, Darius;
- Paul, Victoria G.;
- Deininger, Natalie;
- Riess, Angelika;
- Haack, Tobias;
- Gardella, Elena;
- Møller, Rikke S.;
- Bayat, Allan
Publication type:
Article
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
By:
- Ghesh, Leïla;
- Désir, Julie;
- Haye, Damien;
- Le Tanno, Pauline;
- Devillard, Françoise;
- Cogné, Benjamin;
- Marangoni, Martina;
- Tecco, Laura;
- Heron, Delphine;
- Le Vaillant, Claudine;
- Joubert, Madeleine;
- Beneteau, Claire
Publication type:
Article
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 609, doi. 10.1111/cge.14271
By:
- Alawbathani, Salem;
- Khan, Suliman;
- Westenberger, Ana;
- Beetz, Christian;
- Lingappa, Lokesh
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 501, doi. 10.1111/cge.14155
Publication type:
Article